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    ITM2A integral membrane protein 2A [ Homo sapiens (human) ]

    Gene ID: 9452, updated on 5-Aug-2018

    Summary

    Official Symbol
    ITM2Aprovided by HGNC
    Official Full Name
    integral membrane protein 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:6173
    See related
    Ensembl:ENSG00000078596 MIM:300222; Vega:OTTHUMG00000021900
    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
    E25A; BRICD2A
    Summary
    This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
    Expression
    Ubiquitous expression in ovary (RPKM 64.9), thyroid (RPKM 48.1) and 23 other tissues See more
    Orthologs

    Genomic context

    See ITM2A in Genome Data Viewer
    Location:
    Xq21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (79360384..79367552, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (78615881..78623164, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985690 Neighboring gene collagen triple helix repeat containing 1 pseudogene 1 Neighboring gene kinesin family member 4C, pseudogene Neighboring gene coronin 1C pseudogene Neighboring gene uncharacterized LOC105373282

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    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
    amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of amyloid precursor protein biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    integral membrane protein 2A
    Names
    BRICHOS domain containing 2A

    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_016412.1 RefSeqGene

      Range
      5001..12169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001171581.1NP_001165052.1  integral membrane protein 2A isoform 2

      See identical proteins and their annotated locations for NP_001165052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking a 44 aa protein segment compared to isoform 1.
      Source sequence(s)
      AK303238, AY359051, BM561934, DA365726
      Consensus CDS
      CCDS55455.1
      UniProtKB/Swiss-Prot
      O43736
      Related
      ENSP00000415533.2, ENST00000434584.2
      Conserved Domains (1) summary
      smart01039
      Location:89181
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
    2. NM_004867.4NP_004858.1  integral membrane protein 2A isoform 1

      See identical proteins and their annotated locations for NP_004858.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AY359051, BC040437, BM561934, DA365726
      Consensus CDS
      CCDS14444.1
      UniProtKB/Swiss-Prot
      O43736
      Related
      ENSP00000362395.2, OTTHUMP00000023601, ENST00000373298.6, OTTHUMT00000057329
      Conserved Domains (1) summary
      smart01039
      Location:133225
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

    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.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      79360384..79367552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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