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    MS4A13 membrane spanning 4-domains A13 [ Homo sapiens (human) ]

    Gene ID: 503497, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MS4A13provided by HGNC
    Official Full Name
    membrane spanning 4-domains A13provided by HGNC
    Primary source
    HGNC:HGNC:16674
    See related
    Ensembl:ENSG00000204979 AllianceGenome:HGNC:16674
    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
    Summary
    Predicted to be involved in cell surface receptor signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 1.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See MS4A13 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 (60515392..60543424)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60466529..60494810)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60282865..60310194)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes 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 membrane spanning 4-domains A12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4773 Neighboring gene membrane spanning 4-domains A19, pseudogene Neighboring gene uncharacterized LOC105369321 Neighboring gene long intergenic non-protein coding RNA 301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4774 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4775

    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. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. Yu B, et al. Genet Epidemiol, 2013 Dec. PMID 23934736, Free PMC Article
    2. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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 a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    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)

    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 13
    Names
    testis-expressed transmembrane protein 4
    testis-expressed transmembrane-4 protein

    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_001012417.3 → NP_001012417.2  membrane-spanning 4-domains subfamily A member 13 isoform 1

      See identical proteins and their annotated locations for NP_001012417.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP001034, AY324188
      Consensus CDS
      CCDS31571.1
      UniProtKB/Swiss-Prot
      B2RTS9, Q5J8X3, Q5J8X4, Q5J8X5
      Related
      ENSP00000367428.2, ENST00000378186.7

    2. NM_001100909.2 → NP_001094379.1  membrane-spanning 4-domains subfamily A member 13 isoform 2

      See identical proteins and their annotated locations for NP_001094379.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AP001034, AY324190
      Consensus CDS
      CCDS41653.1
      UniProtKB/Swiss-Prot
      Q5J8X5
      Related
      ENSP00000367427.2, ENST00000378185.6

    3. NM_001278320.2 → NP_001265249.1  membrane-spanning 4-domains subfamily A member 13 isoform 3

      See identical proteins and their annotated locations for NP_001265249.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two consecutive exons in the central coding region, but maintains the reading frame, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AA431602, AP001034, AY324189
      Consensus CDS
      CCDS60801.1
      UniProtKB/Swiss-Prot
      Q5J8X5
      Related
      ENSP00000415535.2, ENST00000437058.6

    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
      60515392..60543424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427040.1 → XP_047282996.1  membrane-spanning 4-domains subfamily A member 13 isoform X1

      UniProtKB/Swiss-Prot
      B2RTS9, Q5J8X3, Q5J8X4, Q5J8X5

    2. XM_047427041.1 → XP_047282997.1  membrane-spanning 4-domains subfamily A member 13 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      60466529..60494810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369002.1 → XP_054224977.1  membrane-spanning 4-domains subfamily A member 13 isoform X1

    2. XM_054369003.1 → XP_054224978.1  membrane-spanning 4-domains subfamily A member 13 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5J8X5.2 GenPept UniProtKB/Swiss-Prot:Q5J8X5

    Gene LinkOut

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

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