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

    Gene ID: 196996, updated on 17-Jun-2024

    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 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

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    See GRAMD2A in Genome Data Viewer
    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_000015.10Genomic Context describing neighboring genes Neighboring gene myosin IXA Neighboring gene RNA, U2 small nuclear 65, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72394409-72394919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9712 Neighboring gene ribosomal protein L21 pseudogene 115 Neighboring gene uncharacterized LOC124903522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9713 Neighboring gene SUMO peptidase family member, NEDD8 specific Neighboring gene Sharpr-MPRA regulatory region 4122 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:72485963-72486586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6617 Neighboring gene Sharpr-MPRA regulatory region 1213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6619 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:72529434-72530633 Neighboring gene pyruvate kinase M1/2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6620 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. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article
    4. 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
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (10) citations in PubMed

    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

    EBI GWAS Catalog

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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)

    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
      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

    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

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      72159806..72197787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      69976533..70014515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUY3.2 GenPept UniProtKB/Swiss-Prot:Q8IUY3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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