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

Gene ID: 503497, updated on 27-Nov-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, Nov 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

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