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DTNB dystrobrevin, beta [ Homo sapiens (human) ]

Gene ID: 1838, updated on 7-Aug-2014
Official Symbol
DTNBprovided by HGNC
Official Full Name
dystrobrevin, betaprovided by HGNC
Primary source
HGNC:3058
See related
Ensembl:ENSG00000138101; HPRD:09091; MIM:602415; Vega:OTTHUMG00000152129
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. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
See DTNB in Epigenomics, MapViewer
Location:
2p24
Exon count:
26
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (25377198..25673647, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25600067..25896516, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene proopiomelanocortin Neighboring gene DNA (cytosine-5-)-methyltransferase 3 alpha Neighboring gene microRNA 1301 Neighboring gene uncharacterized LOC101929272 Neighboring gene additional sex combs like transcriptional regulator 2 Neighboring gene prostaglandin E synthase 3-like Neighboring gene tropomyosin 3 pseudogene 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC17163, MGC57126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
dystrobrevin beta
Names
dystrobrevin beta
DTN-B
beta-dystrobrevin

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_001256303.1NP_001243232.1  dystrobrevin beta isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (6) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK300019, BC016655, DB460644, Y15722
    Consensus CDS
    CCDS74496.1
    UniProtKB/TrEMBL
    B7Z6A9
    UniProtKB/Swiss-Prot
    O60941
    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 493
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 242
    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:144232
    Blast Score: 384
    EF-hand_3; EF-hand
    pfam15458
    Location:434518
    Blast Score: 99
    NTR2; Nineteen complex-related protein 2
  2. NM_001256304.1NP_001243233.1  dystrobrevin beta isoform 7

    See proteins identical to NP_001243233.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two in-frame exons in the coding region, compared to variant 1. The resulting isoform (7) lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    BC016655, DQ160290
    UniProtKB/Swiss-Prot
    O60941
    UniProtKB/TrEMBL
    Q1I0L3
    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 493
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 242
    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:144232
    Blast Score: 383
    EF-hand_3; EF-hand
    pfam15458
    Location:434518
    Blast Score: 100
    NTR2; Nineteen complex-related protein 2
  3. NM_001256308.1NP_001243237.1  dystrobrevin beta isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream AUG start codon, and lacks two in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (8) has a shorter N-terminus and lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AK301386, BC016655
    Consensus CDS
    CCDS58702.1
    UniProtKB/Swiss-Prot
    O60941
    Related
    ENSP00000444463, ENST00000496972
    Conserved Domains (4) summary
    pfam09068
    Location:183
    Blast Score: 305
    EF-hand_2; EF hand
    cd02334
    Location:184232
    Blast Score: 244
    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:87175
    Blast Score: 383
    EF-hand_3; EF-hand
    pfam15458
    Location:377461
    Blast Score: 101
    NTR2; Nineteen complex-related protein 2
  4. NM_021907.4NP_068707.1  dystrobrevin beta isoform 1

    See proteins identical to NP_068707.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1).
    Source sequence(s)
    AF022728, DB460644
    Consensus CDS
    CCDS46237.1
    UniProtKB/Swiss-Prot
    O60941
    Related
    ENSP00000384084, OTTHUMP00000201254, ENST00000406818, OTTHUMT00000325361
    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 494
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 243
    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 ...
    pfam04871
    Location:434523
    Blast Score: 100
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    pfam09069
    Location:144232
    Blast Score: 384
    EF-hand_3; EF-hand
  5. NM_033147.3NP_149159.2  dystrobrevin beta isoform 2

    See proteins identical to NP_149159.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AF022728, BC016655, DB460644
    Consensus CDS
    CCDS46235.1
    UniProtKB/Swiss-Prot
    O60941
    Related
    ENSP00000385482, OTTHUMP00000201255, ENST00000404103, OTTHUMT00000325362
    Conserved Domains (5) summary
    pfam09068
    Location:14140
    Blast Score: 496
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 241
    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:347528
    Blast Score: 91
    PspA_IM30; PspA/IM30 family
    pfam04871
    Location:434523
    Blast Score: 101
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    pfam09069
    Location:144232
    Blast Score: 383
    EF-hand_3; EF-hand
  6. NM_033148.3NP_149160.1  dystrobrevin beta isoform 3

    See proteins identical to NP_149160.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The resulting isoform (3) lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    DB460644, Y12712
    Consensus CDS
    CCDS46234.1
    UniProtKB/Swiss-Prot
    O60941
    Related
    ENSP00000384767, OTTHUMP00000201257, ENST00000407038, OTTHUMT00000325364
    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 498
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 242
    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 ...
    pfam04871
    Location:404493
    Blast Score: 101
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    pfam09069
    Location:144232
    Blast Score: 383
    EF-hand_3; EF-hand
  7. NM_183360.2NP_899204.1  dystrobrevin beta isoform 4

    See proteins identical to NP_899204.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (4) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    BC016655, BC049366, DB460644, Y12712
    Consensus CDS
    CCDS46236.1
    UniProtKB/Swiss-Prot
    O60941
    Related
    ENSP00000385193, OTTHUMP00000201256, ENST00000407661, OTTHUMT00000325363
    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 494
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 243
    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 ...
    pfam04871
    Location:434523
    Blast Score: 101
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    pfam09069
    Location:144232
    Blast Score: 383
    EF-hand_3; EF-hand
  8. NM_183361.2NP_899205.1  dystrobrevin beta isoform 5

    See proteins identical to NP_899205.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (5) lacks three internal segments, compared to isoform 1.
    Source sequence(s)
    BC016655, DB460644
    Consensus CDS
    CCDS46233.1
    UniProtKB/Swiss-Prot
    O60941
    Related
    ENSP00000384787, OTTHUMP00000201258, ENST00000405222, OTTHUMT00000325365
    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 497
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 242
    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:144232
    Blast Score: 384
    EF-hand_3; EF-hand
    pfam15458
    Location:404488
    Blast Score: 100
    NTR2; Nineteen complex-related protein 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    25377198..25673647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264184.1XP_005264241.1  

    UniProtKB/TrEMBL
    E9PEY4
    Related
    ENSP00000385784, OTTHUMP00000201261, ENST00000407186, OTTHUMT00000325369
    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 495
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 244
    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:144232
    Blast Score: 385
    EF-hand_3; EF-hand
    pfam15458
    Location:404488
    Blast Score: 99
    NTR2; Nineteen complex-related protein 2
  2. XM_005264183.1XP_005264240.1  

    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 495
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 244
    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 ...
    pfam04871
    Location:404493
    Blast Score: 100
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    pfam09069
    Location:144232
    Blast Score: 384
    EF-hand_3; EF-hand
  3. XM_005264182.1XP_005264239.1  

    See proteins identical to XP_005264239.1

    UniProtKB/TrEMBL
    Q1I0L3
    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 493
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 242
    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:144232
    Blast Score: 383
    EF-hand_3; EF-hand
    pfam15458
    Location:434518
    Blast Score: 100
    NTR2; Nineteen complex-related protein 2
  4. XM_006711960.1XP_006712023.1  

    Conserved Domains (5) summary
    pfam09068
    Location:14140
    Blast Score: 493
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 242
    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:347528
    Blast Score: 91
    PspA_IM30; PspA/IM30 family
    pfam04871
    Location:434523
    Blast Score: 101
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    pfam09069
    Location:144232
    Blast Score: 382
    EF-hand_3; EF-hand
  5. XM_006711961.1XP_006712024.1  

    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 488
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 237
    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 ...
    pfam04871
    Location:434523
    Blast Score: 99
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    pfam09069
    Location:144232
    Blast Score: 377
    EF-hand_3; EF-hand
  6. XM_006711962.1XP_006712025.1  

    Conserved Domains (4) summary
    pfam09068
    Location:14140
    Blast Score: 487
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 239
    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 ...
    pfam04871
    Location:434523
    Blast Score: 98
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    pfam09069
    Location:144232
    Blast Score: 378
    EF-hand_3; EF-hand
  7. XM_005264186.2XP_005264243.1  

    Conserved Domains (3) summary
    pfam09068
    Location:14140
    Blast Score: 484
    EF-hand_2; EF hand
    cd02334
    Location:241289
    Blast Score: 224
    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:144232
    Blast Score: 381
    EF-hand_3; EF-hand

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    25337463..25633574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    25529919..25826226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)