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DLGAP2 DLG associated protein 2 [ Homo sapiens (human) ]

Gene ID: 9228, updated on 29-Mar-2020

Summary

Official Symbol
DLGAP2provided by HGNC
Official Full Name
DLG associated protein 2provided by HGNC
Primary source
HGNC:HGNC:2906
See related
Ensembl:ENSG00000198010 MIM:605438
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
DAP2; SAPAP2; C8orf68; ERICH1-AS1
Summary
The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]
Expression
Biased expression in brain (RPKM 4.0), testis (RPKM 1.4) and 2 other tissues See more
Orthologs

Genomic context

See DLGAP2 in Genome Data Viewer
Location:
8p23.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (737628..1708476)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (877021..1656642)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene testis development related protein Neighboring gene glutamate rich 1 Neighboring gene uncharacterized LOC401442 Neighboring gene uncharacterized LOC105377777 Neighboring gene uncharacterized LOC112268020 Neighboring gene uncharacterized LOC286083 Neighboring gene uncharacterized LOC105379585 Neighboring gene uncharacterized LOC105377775 Neighboring gene uncharacterized LOC105379586 Neighboring gene DLGAP2 antisense RNA 1 Neighboring gene conserved acetylation island sequence 7 enhancer Neighboring gene uncharacterized LOC105377778 Neighboring gene DNA fragmentation factor subunit alpha pseudogene Neighboring gene uncharacterized LOC101927752 Neighboring gene CLN8 transmembrane ER and ERGIC protein

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
Haploinsufficency

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
NHGRI GWA Catalog
Genome-wide association study of age at menarche in African-American women.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
neuron-neuron synaptic transmission NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
neurofilament NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
disks large-associated protein 2
Names
ERICH1 antisense RNA 1 (non-protein coding)
ERICH1 antisense gene protein 1
PSD-95/SAP90-binding protein 2
SAP90/PSD-95-associated protein 2
discs large homolog associated protein 2
discs large-associated protein 2
putative DAP-2 like protein

NCBI Reference Sequences (RefSeq)

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_009409.2 RefSeqGene

    Range
    4910..975758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346810.2NP_001333739.1  disks large-associated protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005010, AC026950, AC100797, AC110288, AC126333, AW195368
    Consensus CDS
    CCDS87572.1
    UniProtKB/TrEMBL
    A0A1B0GTN4
    Related
    ENSP00000489774.1, ENST00000637795.1

RNA

  1. NR_073397.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC100797, BC022082, HY026606
    Related
    ENST00000522092.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    737628..1708476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187565.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    206894..291612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187568.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    40534..279067
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187572.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    19219..106180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187654.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    112159..317743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_187680.1 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    40124..121138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001277161.1: Suppressed sequence

    Description
    NM_001277161.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
  2. NM_004745.4: Suppressed sequence

    Description
    NM_004745.4: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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