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

Gene ID: 196996, updated on 11-Sep-2019

Summary

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Official Symbol
GRAMD2Aprovided by HGNC
Official Full Name
GRAM domain containing 2Aprovided by HGNC
Primary source
HGNC:HGNC:27287
See related
Ensembl:ENSG00000175318
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
Expression
Biased expression in placenta (RPKM 18.3), lung (RPKM 8.8) and 4 other tissues See more
Orthologs
mouse all

Genomic context

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See GRAMD2A in Genome Data Viewer
Location:
15q23
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (72159806..72197814, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72452147..72490136, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene myosin IXA Neighboring gene RNA, U2 small nuclear 65, pseudogene Neighboring gene ribosomal protein L21 pseudogene 115 Neighboring gene uncharacterized LOC107984715 Neighboring gene SUMO peptidase family member, NEDD8 specific Neighboring gene Sharpr-MPRA regulatory region 1213 Neighboring gene pyruvate kinase M1/2 Neighboring gene poly(ADP-ribose) polymerase family member 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. GRAM domain proteins specialize functionally distinct ER-PM contact sites in human cells. Besprozvannaya M, et al. Elife, 2018 Feb 22. PMID 29469807, Free PMC Article
  2. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. Luykx JJ, et al. Mol Psychiatry, 2014 Feb. PMID 23319000
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (6) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

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

NHGRI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
 PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
endoplasmic reticulum-plasma membrane tethering IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of store-operated calcium entry IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
intrinsic component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
organelle membrane contact site 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)

  1. 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
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    72159806..72197814 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021997.1 → XP_016877486.1  GRAM domain-containing protein 2A isoform X8

  2. XM_011521333.3 → XP_011519635.1  GRAM domain-containing protein 2A isoform X7

    See identical proteins and their annotated locations for XP_011519635.1

    Conserved Domains (1) summary
    cd13220
    Location:48 → 141
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  3. XM_017021998.1 → XP_016877487.1  GRAM domain-containing protein 2A isoform X8

  4. XM_011521328.3 → XP_011519630.1  GRAM domain-containing protein 2A isoform X2

    Conserved Domains (1) summary
    cd13220
    Location:82 → 175
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  5. XM_011521327.2 → XP_011519629.1  GRAM domain-containing protein 2A isoform X1

    Conserved Domains (1) summary
    cd13220
    Location:83 → 176
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  6. XM_011521329.2 → XP_011519631.1  GRAM domain-containing protein 2A isoform X3

    Conserved Domains (1) summary
    cd13220
    Location:74 → 167
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  7. XM_011521330.2 → XP_011519632.1  GRAM domain-containing protein 2A isoform X4

    Conserved Domains (1) summary
    cd13220
    Location:72 → 165
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  8. XM_011521332.3 → XP_011519634.1  GRAM domain-containing protein 2A isoform X7

    See identical proteins and their annotated locations for XP_011519634.1

    Conserved Domains (1) summary
    cd13220
    Location:48 → 141
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  9. XM_024449868.1 → XP_024305636.1  GRAM domain-containing protein 2A isoform X5

    Conserved Domains (1) summary
    cd13220
    Location:67 → 160
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  10. XM_011521331.2 → XP_011519633.1  GRAM domain-containing protein 2A isoform X6

    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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUY3.2 GenPept UniProtKB/Swiss-Prot:Q8IUY3

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