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    MS4A12 membrane spanning 4-domains A12 [ Homo sapiens (human) ]

    Gene ID: 54860, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MS4A12provided by HGNC
    Official Full Name
    membrane spanning 4-domains A12provided by HGNC
    Primary source
    HGNC:HGNC:13370
    See related
    Ensembl:ENSG00000071203 MIM:606550; AllianceGenome:HGNC:13370
    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
    Ms4a10
    Summary
    The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
    Expression
    Restricted expression toward colon (RPKM 119.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See MS4A12 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60492778..60507430)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60443950..60458574)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60260251..60274903)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene membrane spanning 4-domains A5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4770 Neighboring gene membrane spanning 4-domains A1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:60258497-60259236 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:60259237-60259974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3372 Neighboring gene membrane spanning 4-domains A13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4773 Neighboring gene membrane spanning 4-domains A19, pseudogene Neighboring gene uncharacterized LOC105369321

    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. Decreased expression of MS4A12 inhibits differentiation and predicts early stage survival in colon cancer. He L, et al. Neoplasma, 2017. PMID 27881006
    2. MS4A12 is a colon-selective store-operated calcium channel promoting malignant cell processes. Koslowski M, et al. Cancer Res, 2008 May 1. PMID 18451174
    3. CLCA4 and MS4A12 as the significant gene biomarkers of primary colorectal cancer. Han J, et al. Biosci Rep, 2020 Aug 28. PMID 32797167, Free PMC Article
    4. Selective activation of tumor growth-promoting Ca2+ channel MS4A12 in colon cancer by caudal type homeobox transcription factor CDX2. Koslowski M, et al. Mol Cancer, 2009 Sep 25. PMID 19781065, Free PMC Article
    5. Structural organization of the human MS4A gene cluster on Chromosome 11q12. Liang Y, et al. Immunogenetics, 2001 Jul. PMID 11486273

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CLCA4 and MS4A12 as the significant gene biomarkers of primary colorectal cancer.
      Title: CLCA4 and MS4A12 as the significant gene biomarkers of primary colorectal cancer.
    2. In early stage colon cancer, the patients with low MS4A12 expression had a poor survival, while in advanced stage colon cancer MS412 had little prognostic value.
      Title: Decreased expression of MS4A12 inhibits differentiation and predicts early stage survival in colon cancer.
    3. RNA interference of CDX1 and CDX2 and chromatin immunoprecipitation in colon cancer cells revealed that MS4A12 transcript and protein expression is essentially dependent on the presence of endogenous CDX2.
      Title: Selective activation of tumor growth-promoting Ca2+ channel MS4A12 in colon cancer by caudal type homeobox transcription factor CDX2.
    4. MS4A12 is a colon-selective store-operated calcium channel promoting malignant cell processes.
      Title: MS4A12 is a colon-selective store-operated calcium channel promoting malignant cell processes.
    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    membrane-spanning 4-domains subfamily A member 12

    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_001164470.2 → NP_001157942.1  membrane-spanning 4-domains subfamily A member 12 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK000224, BP262076, BP262976
      Consensus CDS
      CCDS53638.1
      UniProtKB/Swiss-Prot
      Q9NXJ0
      Related
      ENSP00000440424.1, ENST00000537076.5
      Conserved Domains (1) summary
      pfam04103
      Location:93 → 175
      CD20; CD20-like family

    2. NM_017716.3 → NP_060186.2  membrane-spanning 4-domains subfamily A member 12 isoform 1

      See identical proteins and their annotated locations for NP_060186.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK000224, BP262076
      Consensus CDS
      CCDS7988.1
      UniProtKB/Swiss-Prot
      F5GX98, Q8N6L4, Q9NXJ0
      Related
      ENSP00000016913.4, ENST00000016913.8
      Conserved Domains (1) summary
      pfam04103
      Location:90 → 221
      CD20; CD20-like family

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      60492778..60507430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545117.3 → XP_011543419.1  membrane-spanning 4-domains subfamily A member 12 isoform X1

      See identical proteins and their annotated locations for XP_011543419.1

      UniProtKB/Swiss-Prot
      F5GX98, Q8N6L4, Q9NXJ0
      Conserved Domains (1) summary
      pfam04103
      Location:90 → 221
      CD20; CD20-like family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      60443950..60458574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXJ0.2 GenPept UniProtKB/Swiss-Prot:Q9NXJ0

    Gene LinkOut

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

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