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

    Gene ID: 9452, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:6173
    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
    mouse all
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    Genomic context

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    See ITM2A in Genome Data Viewer
    Location:
    Xq21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (79360384..79367334, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (77797066..77804015, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (78615881..78622831, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene collagen triple helix repeat containing 1 pseudogene 1 Neighboring gene kinesin family member 4C, pseudogene Neighboring gene CORO1C pseudogene 1 Neighboring gene uncharacterized LOC105373282

    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 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. [Study on the Relationship between Integrin 2A and Drug Resistance in Chronic Myeloid Leukemia]. Zhao NQ, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2023 Feb. PMID 36765470
    2. Downregulation of ITM2A Gene Expression in Macrophages of Patients with Ankylosing Spondylitis. Lari A, et al. Int Arch Allergy Immunol, 2021. PMID 34161951
    3. Association of ITM2A rs1751094 polymorphism on X chromosome in Korean pediatric patients with autoimmune thyroid disease. Cho WK, et al. Immun Inflamm Dis, 2023 Mar. PMID 36988246, Free PMC Article
    4. Integral membrane protein 2A inhibits cell growth in human breast cancer via enhancing autophagy induction. Zhou C, et al. Cell Commun Signal, 2019 Aug 22. PMID 31438969, Free PMC Article
    5. Enhanced ITM2A expression inhibits chondrogenic differentiation of mesenchymal stem cells. Boeuf S, et al. Differentiation, 2009 Sep-Oct. PMID 19541402

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of ITM2A rs1751094 polymorphism on X chromosome in Korean pediatric patients with autoimmune thyroid disease.
      Title: Association of ITM2A rs1751094 polymorphism on X chromosome in Korean pediatric patients with autoimmune thyroid disease.
    2. [Study on the Relationship between Integrin 2A and Drug Resistance in Chronic Myeloid Leukemia].
      Title: [Study on the Relationship between Integrin 2A and Drug Resistance in Chronic Myeloid Leukemia].
    3. Integral Membrane Protein 2A Is a Negative Regulator of Canonical and Non-Canonical Hedgehog Signalling.
      Title: Integral Membrane Protein 2A Is a Negative Regulator of Canonical and Non-Canonical Hedgehog Signalling.
    4. Downregulation of ITM2A Gene Expression in Macrophages of Patients with Ankylosing Spondylitis.
      Title: Downregulation of ITM2A Gene Expression in Macrophages of Patients with Ankylosing Spondylitis.
    5. GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease.
      Title: GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease.
    6. The ITM2A is a novel positive regulator of autophagy through an mTOR-dependent manner.
      Title: Integral membrane protein 2A inhibits cell growth in human breast cancer via enhancing autophagy induction.
    7. ITM2A might be a susceptibility gene for Graves disease in the Xq21.1 locus, and environmental factors, such as viral and bacterial infections, probably contribute to GD pathogenesis by interacting with the risk SNP rs3827440 mediating the regulation of ITM2A expression.
      Title: ITM2A Expands Evidence for Genetic and Environmental Interaction in Graves Disease Pathogenesis.
    8. ITM2A is a new biomarker of poor prognosis in ovarian cancer and a novel tumor suppressor that induces cell cycle arrest, acts as a chemosensitizer, and has therapeutic potential for ovarian cancer.
      Title: Loss of ITM2A, a novel tumor suppressor of ovarian cancer through G2/M cell cycle arrest, is a poor prognostic factor of epithelial ovarian cancer.
    9. The upregulated gene with the largest effect size in ankylosing spondylitis was ITM2A, which plays a role in activation of T cells. (Meta-analysis)
      Title: Meta-analysis of differentially expressed genes in ankylosing spondylitis.
    10. ITM2A expression is positively regulated by PKA-CREB signaling and ITM2A expression interferes with autophagic flux by interacting with vacuolar ATPase.
      Title: The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    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 amyloid-beta binding 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 negative regulation of amyloid precursor protein biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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

    1. NG_016412.1 RefSeqGene

      Range
      5219..12169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001171581.2 → NP_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/TrEMBL
      Q53FG2
      Related
      ENSP00000415533.2, ENST00000434584.2
      Conserved Domains (1) summary
      smart01039
      Location:89 → 181
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

    2. NM_004867.5 → NP_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
      B2R7X5, B4E062, O43736, Q6IBC9
      UniProtKB/TrEMBL
      Q53FG2
      Related
      ENSP00000362395.2, ENST00000373298.7
      Conserved Domains (1) summary
      smart01039
      Location:133 → 225
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      79360384..79367334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      77797066..77804015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43736.2 GenPept UniProtKB/Swiss-Prot:O43736

    Gene LinkOut

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

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