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    DTNB dystrobrevin beta [ Homo sapiens (human) ]

    Gene ID: 1838, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DTNBprovided by HGNC
    Official Full Name
    dystrobrevin betaprovided by HGNC
    Primary source
    HGNC:HGNC:3058
    See related
    Ensembl:ENSG00000138101 MIM:602415; AllianceGenome:HGNC:3058
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in salivary gland (RPKM 3.0), brain (RPKM 2.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p23.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (25377243..25673577, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (25412572..25708881, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25600112..25896446, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25439263-25439780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25452372-25453102 Neighboring gene long intergenic non-protein coding RNA 1381 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25469436-25469945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25470965-25471472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25476274-25476808 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25482555-25483258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25486869-25487452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25487453-25488037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25492834-25493424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25495919-25496419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25499151-25499742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25500333-25500922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25500923-25501512 Neighboring gene DNA methyltransferase 3 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15446 Neighboring gene Sharpr-MPRA regulatory region 14395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25519631-25520132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25528967-25529467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25528466-25528966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25531317-25531818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25531819-25532318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25535893-25536656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25536657-25537420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25544961-25545788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25553395-25553895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25552894-25553394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25557143-25557814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25578935-25579435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25581309-25581844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15450 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25596509 Neighboring gene microRNA 1301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15456 Neighboring gene uncharacterized LOC124900608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15457 Neighboring gene DTNB antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15459 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25722050 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:25724405-25724507 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25741070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15461 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25749376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25757983-25758812 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25761103 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:25781041-25781736 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25786543 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25787416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11262 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:25827447-25827680 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25873082 Neighboring gene Sharpr-MPRA regulatory region 7937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15463 Neighboring gene Sharpr-MPRA regulatory region 10860 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25945408-25946199 Neighboring gene uncharacterized LOC105374332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25966542-25967042 Neighboring gene uncharacterized LOC124906191 Neighboring gene ASXL transcriptional regulator 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2. Prokopenko D, et al. Mol Psychiatry, 2022 Apr. PMID 35246634, Free PMC Article
    2. Identification of β-Dystrobrevin as a Direct Target of miR-143: Involvement in Early Stages of Neural Differentiation. Quaranta MT, et al. PLoS One, 2016. PMID 27223470, Free PMC Article
    3. beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. Peters MF, et al. J Biol Chem, 1997 Dec 12. PMID 9395493
    4. Muscular dystrophies and the dystrophin-glycoprotein complex. Straub V, et al. Curr Opin Neurol, 1997 Apr. PMID 9146999
    5. Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Broderick P, et al. Nat Genet, 2011 Nov 27. PMID 22120009, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.
      Title: Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.
    2. Data provide new insights into the role of beta-dystrobrevin in the molecular mechanisms underlying neuronal differentiation that could be relevant in the establishment of the cognitive impairment in Duchene muscular dystrophy.
      Title: Identification of β-Dystrobrevin as a Direct Target of miR-143: Involvement in Early Stages of Neural Differentiation.
    3. beta-dystrobrevin interacts with the HMG20 proteins iBRAF and BRAF35
      Title: The interaction with HMG20a/b proteins suggests a potential role for beta-dystrobrevin in neuronal differentiation.
    4. results suggest that dysbindin assembled into BLOC-1 is not a physiological binding partner of the dystrobrevins, likely due to engagement of its dystrobrevin-binding region in interactions with other subunits
      Title: Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.
    EBI GWAS Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC17163, MGC57126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in inhibitory synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dystrobrevin beta
    Names
    DTN-B
    beta-dystrobrevin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256303.2 → NP_001243232.1  dystrobrevin beta isoform 6

      Status: REVIEWED

      Source sequence(s)
      AK300019, BC016655, DB460644, Y15722
      Consensus CDS
      CCDS74496.1
      UniProtKB/TrEMBL
      B7Z6A9, E7EVB6
      Related
      ENSP00000288642.9, ENST00000288642.12
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam13874
      Location:434 → 519
      Nup54; Nucleoporin complex subunit 54

    2. NM_001256304.3 → NP_001243233.1  dystrobrevin beta isoform 7

      See identical proteins and their annotated locations for NP_001243233.1

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9, Q1I0L3
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam13874
      Location:434 → 519
      Nup54; Nucleoporin complex subunit 54

    3. NM_001256308.2 → NP_001243237.1  dystrobrevin beta isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC019144, AK301386, BC016655
      UniProtKB/TrEMBL
      B7Z6A9
      Related
      ENST00000496972.6
      Conserved Domains (4) summary
      cd02334
      Location:184 → 232
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:1 → 83
      EF-hand_2; EF hand
      pfam09069
      Location:87 → 175
      EF-hand_3; EF-hand
      pfam13874
      Location:377 → 462
      Nup54; Nucleoporin complex subunit 54

    4. NM_001320932.2 → NP_001307861.1  dystrobrevin beta isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC012074, AC104699, AK225724, BC016655, DB460644
      UniProtKB/Swiss-Prot
      O60941
      Conserved Domains (3) summary
      cd02334
      Location:37 → 85
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09069
      Location:1 → 28
      EF-hand_3; EF-hand
      pfam13874
      Location:230 → 315
      Nup54; Nucleoporin complex subunit 54

    5. NM_001320933.2 → NP_001307862.1  dystrobrevin beta isoform 10

      Status: REVIEWED

      Source sequence(s)
      BC016655, BU846095, BX389926, DB460644, HY302507
      Consensus CDS
      CCDS82428.1
      UniProtKB/TrEMBL
      B7Z6A9, E9PEY4
      Related
      ENSP00000385784.1, ENST00000407186.5
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam13874
      Location:404 → 489
      Nup54; Nucleoporin complex subunit 54

    6. NM_001320934.2 → NP_001307863.1  dystrobrevin beta isoform 11

      Status: REVIEWED

      Source sequence(s)
      AF022728, BC016655, BU846095, BX389926, DB460644, HY302507
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam13874
      Location:404 → 487
      Nup54; Nucleoporin complex subunit 54

    7. NM_001320935.2 → NP_001307864.1  dystrobrevin beta isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC104699, AK294174, BC016655, DB460644
      UniProtKB/TrEMBL
      B7Z202
      Conserved Domains (3) summary
      cd02334
      Location:37 → 85
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09069
      Location:1 → 28
      EF-hand_3; EF-hand
      pfam13874
      Location:230 → 315
      Nup54; Nucleoporin complex subunit 54

    8. NM_001320936.2 → NP_001307865.1  dystrobrevin beta isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC012074, AF022728, DB460644
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (5) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam04012
      Location:347 → 528
      PspA_IM30; PspA/IM30 family
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam11068
      Location:438 → 525
      YlqD; YlqD protein

    9. NM_001320937.2 → NP_001307866.1  dystrobrevin beta isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC019144, AI608704, AL555818, DB460644
      Conserved Domains (2) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins

    10. NM_001351381.2 → NP_001338310.1  dystrobrevin beta isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      Conserved Domains (4) summary
      cd02334
      Location:94 → 142
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd15901
      Location:4 → 33
      EFh_DMD_DYTN_DTN; EF-hand-like motif [structural motif]
      cl07621
      Location:4 → 67
      EFh_DMD_DYTN_DTN; EF-hand-like motif found in the dystrophin/dystrobrevin/dystrotelin family
      cl25732
      Location:260 → 350
      SMC_N; RecF/RecN/SMC N terminal domain

    11. NM_001351382.2 → NP_001338311.1  dystrobrevin beta isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl25602
      Location:401 → 495
      DUF3552; Domain of unknown function (DUF3552)

    12. NM_001351383.2 → NP_001338312.1  dystrobrevin beta isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl25732
      Location:401 → 503
      SMC_N; RecF/RecN/SMC N terminal domain

    13. NM_001351384.2 → NP_001338313.1  dystrobrevin beta isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl27210
      Location:427 → 521
      Mnd1; Mnd1 family

    14. NM_001351385.2 → NP_001338314.1  dystrobrevin beta isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (2) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins

    15. NM_001351386.2 → NP_001338315.1  dystrobrevin beta isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl27210
      Location:397 → 491
      Mnd1; Mnd1 family

    16. NM_001351387.2 → NP_001338316.1  dystrobrevin beta isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl25732
      Location:401 → 503
      SMC_N; RecF/RecN/SMC N terminal domain

    17. NM_001351388.2 → NP_001338317.1  dystrobrevin beta isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl25602
      Location:431 → 525
      DUF3552; Domain of unknown function (DUF3552)

    18. NM_001351389.2 → NP_001338318.1  dystrobrevin beta isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC019144, AC104699
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl25602
      Location:401 → 495
      DUF3552; Domain of unknown function (DUF3552)

    19. NM_001351390.2 → NP_001338319.1  dystrobrevin beta isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl25602
      Location:401 → 495
      DUF3552; Domain of unknown function (DUF3552)

    20. NM_001351391.2 → NP_001338320.1  dystrobrevin beta isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl27210
      Location:397 → 491
      Mnd1; Mnd1 family

    21. NM_001351392.2 → NP_001338321.1  dystrobrevin beta isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      Conserved Domains (4) summary
      cd02334
      Location:94 → 142
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd15901
      Location:4 → 33
      EFh_DMD_DYTN_DTN; EF-hand-like motif [structural motif]
      cl07621
      Location:4 → 67
      EFh_DMD_DYTN_DTN; EF-hand-like motif found in the dystrophin/dystrobrevin/dystrotelin family
      cl25723
      Location:257 → 346
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    22. NM_001351393.2 → NP_001338322.1  dystrobrevin beta isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      Conserved Domains (4) summary
      cd02334
      Location:94 → 142
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd15901
      Location:4 → 33
      EFh_DMD_DYTN_DTN; EF-hand-like motif [structural motif]
      cl07621
      Location:4 → 67
      EFh_DMD_DYTN_DTN; EF-hand-like motif found in the dystrophin/dystrobrevin/dystrotelin family
      cl25723
      Location:257 → 346
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    23. NM_001351394.2 → NP_001338323.1  dystrobrevin beta isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      UniProtKB/TrEMBL
      B7Z6A9
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16250
      Location:54 → 214
      EFh_DTNB; EF-hand-like motif found in beta-dystrobrevin
      cl25723
      Location:434 → 531
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
      cl25917
      Location:346 → 518
      Exonuc_VII_L; Exonuclease VII, large subunit

    24. NM_001351395.2 → NP_001338324.1  dystrobrevin beta isoform 29

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      Conserved Domains (2) summary
      cl25732
      Location:10 → 216
      SMC_N; RecF/RecN/SMC N terminal domain
      cl27210
      Location:122 → 216
      Mnd1; Mnd1 family

    25. NM_001394686.1 → NP_001381615.1  dystrobrevin beta isoform 30

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      Conserved Domains (4) summary
      COG1340
      Location:287 → 368
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      PRK00286
      Location:199 → 379
      xseA; exodeoxyribonuclease VII large subunit; Reviewed
      cd02334
      Location:94 → 142
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09069
      Location:4 → 85
      EF-hand_3

    26. NM_021907.5 → NP_068707.1  dystrobrevin beta isoform 1

      See identical proteins and their annotated locations for NP_068707.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF022728, DB460644
      Consensus CDS
      CCDS46237.1
      UniProtKB/Swiss-Prot
      B7Z733, F5GZG4, G5E9F6, O43782, O60881, O60941, O75538, Q86VR4, Q96AW0, Q9UE14, Q9UE15, Q9UE16
      UniProtKB/TrEMBL
      B7Z6A9
      Related
      ENSP00000384084.3, ENST00000406818.8
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam11068
      Location:438 → 525
      YlqD; YlqD protein

    27. NM_033147.4 → NP_149159.2  dystrobrevin beta isoform 2

      See identical proteins and their annotated locations for NP_149159.2

      Status: REVIEWED

      Source sequence(s)
      AF022728, BC016655, DB460644
      Consensus CDS
      CCDS46235.1
      UniProtKB/TrEMBL
      B7Z6A9
      Related
      ENSP00000385482.3, ENST00000404103.7
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam13874
      Location:434 → 517
      Nup54; Nucleoporin complex subunit 54

    28. NM_033148.4 → NP_149160.1  dystrobrevin beta isoform 3

      See identical proteins and their annotated locations for NP_149160.1

      Status: REVIEWED

      Source sequence(s)
      DB460644, Y12712
      Consensus CDS
      CCDS46234.1
      UniProtKB/TrEMBL
      B7Z6A9
      Related
      ENSP00000384767.3, ENST00000407038.7
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam13874
      Location:404 → 487
      Nup54; Nucleoporin complex subunit 54

    29. NM_183360.3 → NP_899204.1  dystrobrevin beta isoform 4

      See identical proteins and their annotated locations for NP_899204.1

      Status: REVIEWED

      Source sequence(s)
      BC016655, BC049366, DB460644, Y12712
      Consensus CDS
      CCDS46236.1
      UniProtKB/TrEMBL
      B7Z6A9
      Related
      ENSP00000385193.3, ENST00000407661.7
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam11068
      Location:438 → 525
      YlqD; YlqD protein

    30. NM_183361.3 → NP_899205.1  dystrobrevin beta isoform 5

      See identical proteins and their annotated locations for NP_899205.1

      Status: REVIEWED

      Source sequence(s)
      BC016655, DB460644
      Consensus CDS
      CCDS46233.1
      UniProtKB/TrEMBL
      B7Z6A9
      Related
      ENSP00000384787.1, ENST00000405222.5
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16244
      Location:54 → 214
      EFh_DTN; EF-hand-like motif found in dystrobrevins and similar proteins
      cl27210
      Location:397 → 491
      Mnd1; Mnd1 family

    RNA

    1. NR_147180.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC012074, AC019144, AC104699
      Related
      ENST00000398951.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      25377243..25673577 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      25412572..25708881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60941.1 GenPept UniProtKB/Swiss-Prot:O60941

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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