GRAMD2A GRAM domain containing 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRAMD2Aprovided by HGNC
Official Full Name: GRAM domain containing 2Aprovided by HGNC
Primary source: HGNC:HGNC:27287
See related: Ensembl:ENSG00000175318 MIM:620181; AllianceGenome:HGNC:27287
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GRAMD2
Summary: Enables phosphatidylinositol-4,5-bisphosphate binding activity. Involved in endoplasmic reticulum-plasma membrane tethering and regulation of store-operated calcium entry. Located in organelle membrane contact site. Is extrinsic component of cytoplasmic side of plasma membrane and intrinsic component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in placenta (RPKM 18.3), lung (RPKM 8.8) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q23

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (72159806..72197787, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (69976533..70014515, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (72452147..72490128, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

GRAMD2a, but not GRAMD1a, co-localizes with the E-Syt2/3 tethers at endoplasmic reticulum-plasma membrane contact sites in a phosphatidylinositol phosphate lipid-dependent manner. Data from an analysis of cells lacking GRAMD2a suggest that it is an organizer of the membrane contact sites with pleiotropic functions including calcium homeostasis.
Title: GRAM domain proteins specialize functionally distinct ER-PM contact sites in human cells.

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
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. 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

D15S1300 (e-PCR)
- UniSTS:35861

NoName (e-PCR)
- UniSTS:487230

SHGC-85743 (e-PCR)
- UniSTS:103772

RH48501 (e-PCR)
- UniSTS:8057

STS-H64591 (e-PCR)
- UniSTS:50839

T03512 (e-PCR)
- UniSTS:4810

RH66304 (e-PCR)
- UniSTS:64974

RH67936 (e-PCR)
- UniSTS:59617

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate 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 endoplasmic reticulum-plasma membrane tethering	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum-plasma membrane tethering	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of store-operated calcium entry	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of store-operated calcium entry	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in organelle membrane contact site	IBA Inferred from Biological aspect of Ancestor more info
located_in organelle membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: GRAM domain-containing protein 2A

Names: GRAM domain containing 2; GRAM domain-containing protein 2

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)

NM_001012642.3 → NP_001012660.1 GRAM domain-containing protein 2A

See identical proteins and their annotated locations for NP_001012660.1

Status: VALIDATED

Source sequence(s)

BC038451, BM663624, DA854662

Consensus CDS

CCDS32283.1

UniProtKB/Swiss-Prot

B3KT68, Q8IUY3

Related

ENSP00000311657.7, ENST00000309731.12

Conserved Domains (1) summary

cd13220
Location:84 → 177

PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain