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DLG2 discs large MAGUK scaffold protein 2 [ Homo sapiens (human) ]

Gene ID: 1740, updated on 26-Oct-2022

Summary

Official Symbol
DLG2provided by HGNC
Official Full Name
discs large MAGUK scaffold protein 2provided by HGNC
Primary source
HGNC:HGNC:2901
See related
Ensembl:ENSG00000150672 MIM:603583; AllianceGenome:HGNC:2901
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
Also known as
PSD93; PSD-93; PPP1R58; chapsyn-110
Summary
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]
Expression
Biased expression in brain (RPKM 9.7), adrenal (RPKM 2.3) and 5 other tissues See more
Orthologs
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Genomic context

See DLG2 in Genome Data Viewer
Location:
11q14.1
Exon count:
47
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (83455012..85628373, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (83391509..85565050, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (83166055..85339417, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902728 Neighboring gene CYCS pseudogene 28 Neighboring gene uncharacterized LOC107984425 Neighboring gene DLG2 intron CAGE-defined low expression enhancer Neighboring gene uncharacterized LOC124900639 Neighboring gene DLG2 antisense RNA 2 Neighboring gene suppressor of cytokine signaling 6 pseudogene Neighboring gene uncharacterized LOC124902729 Neighboring gene lactate dehydrogenase A like 6D, pseudogene Neighboring gene uncharacterized LOC105369416 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 72 Neighboring gene uncharacterized LOC124902727 Neighboring gene ribosomal protein L9 pseudogene 22 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 6 Neighboring gene REST corepressor 1 pseudogene Neighboring gene DExH-box helicase 9 pseudogene Neighboring gene RNA, U6 small nuclear 1292, pseudogene Neighboring gene transmembrane protein 126B Neighboring gene transmembrane protein 126A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-11-28)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2018-11-28)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
A genome-wide association study identifies susceptibility loci for Wilms tumor.
EBI GWAS Catalog
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
EBI GWAS Catalog
Genome wide association scan for chronic periodontitis implicates novel locus.
EBI GWAS Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
EBI GWAS Catalog
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
EBI GWAS Catalog
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
EBI GWAS Catalog
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37266, MGC131811, DKFZp781D1854, DKFZp781E0954

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanylate kinase activity TAS
Traceable Author Statement
more info
PubMed 
enables kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in GDP metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in GMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in anterograde axonal protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to potassium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in embryo development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in establishment or maintenance of epithelial cell apical/basal polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in establishment or maintenance of epithelial cell apical/basal polarity IC
Inferred by Curator
more info
PubMed 
involved_in receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in receptor localization to synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in retrograde axonal protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in adherens junction IC
Inferred by Curator
more info
PubMed 
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in juxtaparanode region of axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
disks large homolog 2
Names
channel-associated protein of synapse-110
channel-associated protein of synapses, 110kDa
discs, large homolog 2, chapsyn-110
postsynaptic density protein PSD-93
protein phosphatase 1, regulatory subunit 58

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_021375.2 RefSeqGene

    Range
    6192..2178363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142699.3NP_001136171.1  disks large homolog 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC023118, AP000639, AP000642, AP000773, AP001791, AP002370, AP002751, AP002797, AP002803, AP002878, AP003026, AP003093, AP003305
    Consensus CDS
    CCDS44690.1
    UniProtKB/Swiss-Prot
    Q15700
    Related
    ENSP00000365272.2, ENST00000376104.7
    Conserved Domains (7) summary
    cd12032
    Location:639712
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:795962
    GuKc; Guanylate kinase homologues
    cd00992
    Location:524602
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:784962
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:383450
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:120202
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    cl02672
    Location:125
    L27; L27 domain
  2. NM_001142700.2NP_001136172.1  disks large homolog 2 isoform 3

    See identical proteins and their annotated locations for NP_001136172.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses a distinct 5' UTR and coding region, lacks three coding exons, and includes an alternate coding exon, compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK126776, AP003026, BM678399
    Consensus CDS
    CCDS44691.1
    UniProtKB/Swiss-Prot
    Q15700
    Related
    ENSP00000402275.2, ENST00000418306.6
    Conserved Domains (5) summary
    cd12032
    Location:431504
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:569736
    GuKc; Guanylate kinase homologues
    cd00992
    Location:316394
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:558736
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:227290
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  3. NM_001142702.2NP_001136174.1  disks large homolog 2 isoform 4

    See identical proteins and their annotated locations for NP_001136174.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses a distinct 5' UTR, lacks an in-frame portion of the 5' coding region, and uses an alternate splice pattern in the central coding region, compared to variant 1. The resulting isoform (4) has a shorter N-terminus and differs at an internal segment, compared to isoform 1.
    Source sequence(s)
    AP000773, AP002370, AP003026
    Consensus CDS
    CCDS44692.1
    UniProtKB/Swiss-Prot
    Q15700
    Related
    ENSP00000393049.2, ENST00000426717.6
    Conserved Domains (2) summary
    pfam00625
    Location:143321
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1689
    SH3; Src Homology 3 domain superfamily
  4. NM_001206769.2NP_001193698.1  disks large homolog 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. Isoform 5 has a distinct N-terminus and is compared to isoform 1.
    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003026, AP003305
    Consensus CDS
    CCDS55782.1
    UniProtKB/Swiss-Prot
    Q15700
    Related
    ENSP00000280241.8, ENST00000280241.12
    Conserved Domains (6) summary
    cd12032
    Location:573646
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:729896
    GuKc; Guanylate kinase homologues
    cd00992
    Location:458536
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:718896
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:317384
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:45136
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  5. NM_001300983.1NP_001287912.1  disks large homolog 2 isoform 6

    See identical proteins and their annotated locations for NP_001287912.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK295094, AP003026
    Consensus CDS
    CCDS73357.1
    UniProtKB/TrEMBL
    B7Z2T4
    Related
    ENSP00000435849.1, ENST00000532653.5
    Conserved Domains (6) summary
    cd12032
    Location:534607
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:672839
    GuKc; Guanylate kinase homologues
    cd00992
    Location:419497
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:661839
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:278345
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1497
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  6. NM_001351274.2NP_001338203.1  disks large homolog 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000642, AP000773, AP001791, AP002370, AP002751, AP002797, AP002803, AP002878, AP003026, AP003093, AP003305
    Consensus CDS
    CCDS91566.1
    Related
    ENSP00000516284.1, ENST00000706226.1
    Conserved Domains (6) summary
    cd12032
    Location:651724
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:536614
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:778956
    Guanylate_kin; Guanylate kinase
    pfam09058
    Location:462
    L27_1; L27_1
    pfam10600
    Location:395462
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:132214
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  7. NM_001351275.2NP_001338204.1  disks large homolog 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000642, AP000773, AP001791, AP002370, AP002751, AP002797, AP002803, AP002878, AP003026, AP003093, AP003305
    Consensus CDS
    CCDS91565.1
    Related
    ENSP00000516288.1, ENST00000706233.1
    Conserved Domains (6) summary
    cd12032
    Location:650723
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:535613
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:777955
    Guanylate_kin; Guanylate kinase
    pfam09058
    Location:462
    L27_1; L27_1
    pfam10600
    Location:394461
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:132213
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  8. NM_001351276.2NP_001338205.1  disks large homolog 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP001791, AP001825, AP002370, AP002751, AP002797, AP003026, AP003305
    Conserved Domains (5) summary
    cd12032
    Location:553626
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:438516
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:680858
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:297364
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:34116
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  9. NM_001364.3NP_001355.2  disks large homolog 2 isoform 2

    See identical proteins and their annotated locations for NP_001355.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a distinct 5' UTR and coding region, compared to variant 1. The resulting isoform (2), also known as alpha, has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AB209252, AP003026, BM678399, CR749820, DA778233
    Consensus CDS
    CCDS41696.1
    UniProtKB/Swiss-Prot
    Q15700, Q6ZTA8
    Related
    ENSP00000381355.2, ENST00000398309.6
    Conserved Domains (6) summary
    cd12032
    Location:534607
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:690857
    GuKc; Guanylate kinase homologues
    cd00992
    Location:419497
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:679857
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:278345
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1497
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  10. NM_001377966.1NP_001364895.1  disks large homolog 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003026, AP003305
    Conserved Domains (5) summary
    cd12032
    Location:573646
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:458536
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:718890
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:317384
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:45136
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  11. NM_001377967.1NP_001364896.1  disks large homolog 2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003026, AP003305
    Consensus CDS
    CCDS91558.1
    Related
    ENSP00000516291.1, ENST00000706243.1
    Conserved Domains (5) summary
    cd12032
    Location:573646
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:458536
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:700878
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:317384
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:45136
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  12. NM_001377968.1NP_001364897.1  disks large homolog 2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP000857, AP001791, AP002370, AP002751, AP002797, AP003026, AP003305
    Consensus CDS
    CCDS91563.1
    UniProtKB/TrEMBL
    E9PN83
    Related
    ENSP00000432894.1, ENST00000524982.5
    Conserved Domains (5) summary
    cd12032
    Location:534607
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:419497
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:675853
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:278345
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1497
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  13. NM_001377970.1NP_001364899.1  disks large homolog 2 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003026, AP003305
    Consensus CDS
    CCDS91557.1
    Related
    ENSP00000516282.1, ENST00000706204.1
    Conserved Domains (5) summary
    cd12032
    Location:521594
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:406484
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:666844
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:317380
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:45136
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  14. NM_001377971.1NP_001364900.1  disks large homolog 2 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003026, AP003305
    Conserved Domains (5) summary
    cd12032
    Location:521594
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:406484
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:648826
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:317380
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:45136
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  15. NM_001377972.1NP_001364901.1  disks large homolog 2 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003026, AP003305
    Related
    ENSP00000381353.4, ENST00000330014.11
    Conserved Domains (5) summary
    cd12032
    Location:501574
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:386464
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:628806
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:245312
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:3664
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  16. NM_001377973.1NP_001364902.1  disks large homolog 2 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP001791, AP002370, AP002751, AP002797, AP003026, AP003305
    Consensus CDS
    CCDS91559.1
    Related
    ENSP00000500169.2, ENST00000527466.2
    Conserved Domains (5) summary
    cd12032
    Location:492565
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:377455
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:619797
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:236303
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:2455
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  17. NM_001377974.1NP_001364903.1  disks large homolog 2 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003026, AP003305
    Conserved Domains (5) summary
    cd12032
    Location:449522
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    cd00992
    Location:334412
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:576754
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:245308
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:3664
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  18. NM_001377975.1NP_001364904.1  disks large homolog 2 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003305
    Consensus CDS
    CCDS91556.1
    Related
    ENSP00000516287.1, ENST00000706232.1
    Conserved Domains (3) summary
    cd00992
    Location:386464
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam10600
    Location:245312
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:3664
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  19. NM_001377976.1NP_001364905.1  disks large homolog 2 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AP000773, AP002370, AP003026
    Conserved Domains (2) summary
    pfam00625
    Location:172350
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:45118
    SH3; Src Homology 3 domain superfamily
  20. NM_001377977.1NP_001364906.1  disks large homolog 2 isoform 20

    Status: REVIEWED

    Source sequence(s)
    AP000773, AP002370, AP003026
    Conserved Domains (2) summary
    pfam00625
    Location:170348
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:43116
    SH3; Src Homology 3 domain superfamily
  21. NM_001377978.1NP_001364907.1  disks large homolog 2 isoform 21

    Status: REVIEWED

    Source sequence(s)
    AP000773, AP002370, AP003026
    Conserved Domains (2) summary
    pfam00625
    Location:161339
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1689
    SH3; Src Homology 3 domain superfamily
  22. NM_001377979.1NP_001364908.1  disks large homolog 2 isoform 22

    Status: REVIEWED

    Source sequence(s)
    AP000773, AP002370, AP003026
    Consensus CDS
    CCDS91555.1
    UniProtKB/TrEMBL
    B7Z640
    Related
    ENSP00000385113.3, ENST00000404783.7
    Conserved Domains (2) summary
    pfam00625
    Location:157335
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1689
    SH3; Src Homology 3 domain superfamily
  23. NM_001377980.1NP_001364909.1  disks large homolog 2 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AP000773, AP002370, AP003026
    Conserved Domains (2) summary
    pfam00625
    Location:143315
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1689
    SH3; Src Homology 3 domain superfamily
  24. NM_001377981.1NP_001364910.1  disks large homolog 2 isoform 24

    Status: REVIEWED

    Source sequence(s)
    AP000773, AP002370, AP003026
    Conserved Domains (2) summary
    pfam00625
    Location:126304
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1689
    SH3; Src Homology 3 domain superfamily
  25. NM_001377982.1NP_001364911.1  disks large homolog 2 isoform 25

    Status: REVIEWED

    Source sequence(s)
    AP000773, AP002370, AP003026
    Conserved Domains (1) summary
    pfam00625
    Location:84262
    Guanylate_kin; Guanylate kinase
  26. NM_001377983.1NP_001364912.1  disks large homolog 2 isoform 26

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP002797, AP003305
    Conserved Domains (2) summary
    cd00992
    Location:137221
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam10608
    Location:45136
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

RNA

  1. NR_165353.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023118, AP000773, AP002370, AP002751, AP002797, AP003026, AP003305
    Related
    ENST00000706203.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    83455012..85628373 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017256.3XP_016872745.1  disks large homolog 2 isoform X2

  2. XM_047426494.1XP_047282450.1  disks large homolog 2 isoform X1

  3. XM_017017257.3XP_016872746.1  disks large homolog 2 isoform X4

  4. XM_047426498.1XP_047282454.1  disks large homolog 2 isoform X8

  5. XM_047426496.1XP_047282452.1  disks large homolog 2 isoform X5

  6. XM_047426495.1XP_047282451.1  disks large homolog 2 isoform X3

  7. XM_047426499.1XP_047282455.1  disks large homolog 2 isoform X9

  8. XM_047426497.1XP_047282453.1  disks large homolog 2 isoform X6

  9. XM_017017255.3XP_016872744.1  disks large homolog 2 isoform X2

  10. XM_017017258.2XP_016872747.1  disks large homolog 2 isoform X7

  11. XM_017017285.2XP_016872774.1  disks large homolog 2 isoform X31

  12. XM_017017276.2XP_016872765.1  disks large homolog 2 isoform X22

  13. XM_017017269.2XP_016872758.1  disks large homolog 2 isoform X18

  14. XM_017017280.3XP_016872769.1  disks large homolog 2 isoform X29

  15. XM_017017279.2XP_016872768.1  disks large homolog 2 isoform X27

    Related
    ENSP00000435809.2, ENST00000527088.2
  16. XM_017017270.2XP_016872759.1  disks large homolog 2 isoform X19

  17. XM_011544782.3XP_011543084.1  disks large homolog 2 isoform X14

    Conserved Domains (6) summary
    cd12032
    Location:555628
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:711878
    GuKc; Guanylate kinase homologues
    cd00992
    Location:440518
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:700878
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:299366
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:36118
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  18. XM_017017263.2XP_016872752.1  disks large homolog 2 isoform X11

  19. XM_017017268.2XP_016872757.1  disks large homolog 2 isoform X17

  20. XM_017017267.2XP_016872756.1  disks large homolog 2 isoform X16

    Conserved Domains (6) summary
    cd12032
    Location:534607
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:704871
    GuKc; Guanylate kinase homologues
    cd00992
    Location:419497
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:693871
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:278345
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1497
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  21. XM_017017265.3XP_016872754.1  disks large homolog 2 isoform X13

    Conserved Domains (3) summary
    cd12032
    Location:553626
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:723890
    GuKc; Guanylate kinase homologues
    cd00992
    Location:438516
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  22. XM_017017281.3XP_016872770.1  disks large homolog 2 isoform X28

    Related
    ENSP00000516312.1, ENST00000706266.1
  23. XM_047426502.1XP_047282458.1  disks large homolog 2 isoform X24

  24. XM_017017271.3XP_016872760.1  disks large homolog 2 isoform X20

    Related
    ENSP00000516313.1, ENST00000706267.1
  25. XM_047426500.1XP_047282456.1  disks large homolog 2 isoform X15

    UniProtKB/TrEMBL
    A0A3B3ISW2
    Related
    ENSP00000497475.1, ENST00000648622.1
  26. XM_017017264.3XP_016872753.1  disks large homolog 2 isoform X12

  27. XM_047426505.1XP_047282461.1  disks large homolog 2 isoform X32

  28. XM_047426503.1XP_047282459.1  disks large homolog 2 isoform X26

  29. XM_017017277.2XP_016872766.1  disks large homolog 2 isoform X23

  30. XM_017017273.3XP_016872762.1  disks large homolog 2 isoform X21

  31. XM_017017262.2XP_016872751.1  disks large homolog 2 isoform X10

  32. XM_005273810.5XP_005273867.1  disks large homolog 2 isoform X25

    Related
    ENSP00000433848.1, ENST00000531015.5
    Conserved Domains (6) summary
    cd12032
    Location:501574
    SH3_DLG2; Src Homology 3 domain of Disks Large homolog 2
    smart00072
    Location:657824
    GuKc; Guanylate kinase homologues
    cd00992
    Location:386464
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:646824
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:245312
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:3664
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  33. XM_017017284.2XP_016872773.1  disks large homolog 2 isoform X30

  34. XM_017017287.2XP_016872776.1  disks large homolog 2 isoform X34

  35. XM_017017289.2XP_016872778.1  disks large homolog 2 isoform X35

    Conserved Domains (2) summary
    pfam00625
    Location:202380
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:43116
    SH3; Src Homology 3 domain superfamily
  36. XM_017017290.2XP_016872779.1  disks large homolog 2 isoform X36

    Conserved Domains (2) summary
    pfam00625
    Location:175353
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1689
    SH3; Src Homology 3 domain superfamily
  37. XM_047426506.1XP_047282462.1  disks large homolog 2 isoform X33

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    83391509..85565050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175892.3: Suppressed sequence

    Description
    NM_175892.3: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.