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

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; AllianceGenome:HGNC:2906
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: mouse all
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Genomic context

Location:: 8p23.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (737628..1708476)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (529208..1487141)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (687628..1656642)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cross-Species Analyses Identify Dlgap2 as a Regulator of Age-Related Cognitive Decline and Alzheimer's Dementia.
Title: Cross-Species Analyses Identify Dlgap2 as a Regulator of Age-Related Cognitive Decline and Alzheimer's Dementia.
Cannabis use is associated with potentially heritable widespread changes in autism candidate gene DLGAP2 DNA methylation in sperm.
Title: Cannabis use is associated with potentially heritable widespread changes in autism candidate gene DLGAP2 DNA methylation in sperm.
This study showed increased DNA methylation levels of the DLGAP2 gene in both TD and NTD patients compared to control individuals.
Title: Quantitative DNA Methylation Analysis of DLGAP2 Gene using Pyrosequencing in Schizophrenia with Tardive Dyskinesia: A Linear Mixed Model Approach.
Results show that RP11-397D12.4, AC007403.1, and ERICH1-AS1 LncRNA expression are up-regulated in non-small-cell lung cancer (NSCLC) and may be potential biomarkers for predicting the tumorigenesis of NSCLC in the future.
Title: Three circulating long non-coding RNAs act as biomarkers for predicting NSCLC.
The Gene-based analyses revealed four significant associations in the WT1, ZC3H12C, DLGAP2, and GPR1 genes at p < 0.05. in this study.
Title: Genetic variation in imprinted genes is associated with risk of late-onset Alzheimer's disease.
DLGAP2 is a susceptible gene of schizophrenia.
Title: Role of the DLGAP2 gene encoding the SAP90/PSD-95-associated protein 2 in schizophrenia.
this study demonistrated that two SNPs in DLGAP2 (rs6558484 and rs7014992) and prefrontal cortex white matter volume.
Title: Glutamate system genes and brain volume alterations in pediatric obsessive-compulsive disorder: a preliminary study.
DLGAP2 gene is imprinted, with preferential expression from the paternal allele in testis.
Title: Computational and experimental identification of novel human imprinted genes.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Functional impact of global rare copy number variation in autism spectrum disorders.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-172453 (e-PCR)
- UniSTS:184832

D8S2129 (e-PCR)
- UniSTS:35100

RH11661 (e-PCR)
- UniSTS:35101

AF009212 (e-PCR)
- UniSTS:36929

AF009207 (e-PCR)
- UniSTS:57160

D15S792 (e-PCR)
- UniSTS:49048

AF009208 (e-PCR)
- UniSTS:36251

A004F35 (e-PCR)
- UniSTS:22686

SHGC-142939 (e-PCR)
- UniSTS:174059

SHGC-2740 (e-PCR)
- UniSTS:28662

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in neuron-neuron synaptic transmission	NAS Non-traceable Author Statement more info
involved_in regulation of postsynaptic neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in neurofilament	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic specialization	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

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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.

Genomic

NG_009409.2 RefSeqGene

Range

4910..975758

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346810.2 → NP_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/Swiss-Prot

A1QCF8, A1QCF9, A5D8Y2, O14488, O14664, Q9P1A6, Q9P1A7

UniProtKB/TrEMBL

A0A1B0GTN4

Related

ENSP00000489774.1, ENST00000637795.2

RNA

NR_073397.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC100797, BC022082, HY026606

Related

ENST00000522092.5

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

737628..1708476

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187565.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

206894..291612

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187568.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

40534..279067

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187572.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

19219..106180

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NT_187654.1 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

112159..317743

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

NT_187680.1 Reference GRCh38.p14 ALT_REF_LOCI_3

Range

40124..121138

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

529208..1487141

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.