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    MS4A14 membrane spanning 4-domains A14 [ Homo sapiens (human) ]

    Gene ID: 84689, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MS4A14provided by HGNC
    Official Full Name
    membrane spanning 4-domains A14provided by HGNC
    Primary source
    HGNC:HGNC:30706
    See related
    Ensembl:ENSG00000166928 AllianceGenome:HGNC:30706
    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
    Also known as
    MS4A16; NYD-SP21
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Biased expression in testis (RPKM 42.8), lung (RPKM 3.7) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60396459..60417756)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60347724..60368988)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60163932..60185229)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5454 Neighboring gene membrane spanning 4-domains A6E Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:60135080-60135586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4769 Neighboring gene membrane spanning 4-domains A7 Neighboring gene membrane spanning 4-domains A5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4770 Neighboring gene membrane spanning 4-domains A1

    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. Association study of frameshift and splice variant polymorphisms with risk of idiopathic recurrent pregnancy loss. Lee HA, et al. Mol Med Rep, 2018 Aug. PMID 29956771
    2. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction analysis demonstrated that the following genotypes: MS4A14 DI+II, SLC2A DI+II and ABCB 5 CG+GG, were associated with a prothrombin time >/=12 sec and with Recurrent pregnancy loss (RPL) risk
      Title: Association study of frameshift and splice variant polymorphisms with risk of idiopathic recurrent pregnancy loss.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    Potential readthrough

    Included gene: MS4A7

    Homology

    Clone Names

    • MGC49828, MGC104289

    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 14
    Names
    MS4A13 protein
    membrane-spanning 4-domains, subfamily A, member 16
    testes development-related NYD-SP21
    testis development protein NYD-SP21

    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_001079692.3 → NP_001073160.1  membrane-spanning 4-domains subfamily A member 14 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple coding region differences, compared to variant 4, which results in a shorter protein (isoform 2), compared to isoform 4.
      Source sequence(s)
      AP003127, AY094611
      Consensus CDS
      CCDS41652.1
      UniProtKB/TrEMBL
      F6X344
      Related
      ENSP00000378453.2, ENST00000395005.6
      Conserved Domains (1) summary
      pfam04103
      Location:44 → 130
      CD20; CD20-like family

    2. NM_001261827.2 → NP_001248756.1  membrane-spanning 4-domains subfamily A member 14 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 4, which results in a shorter protein (isoform 3), compared to isoform 4.
      Source sequence(s)
      AK057418, AP003127, DB082055
      Consensus CDS
      CCDS73295.1
      UniProtKB/TrEMBL
      A0A0A0MS57, F6X344
      Related
      ENSP00000378449.2, ENST00000395001.5
      Conserved Domains (1) summary
      pfam04103
      Location:44 → 130
      CD20; CD20-like family

    3. NM_001261828.2 → NP_001248757.1  membrane-spanning 4-domains subfamily A member 14 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (4).
      Source sequence(s)
      AP003127, BC064627, DB727789
      Consensus CDS
      CCDS58136.1
      UniProtKB/Swiss-Prot
      Q96JA4
      Related
      ENSP00000433761.1, ENST00000531783.5
      Conserved Domains (1) summary
      pfam04103
      Location:44 → 147
      CD20; CD20-like family

    4. NM_032597.5 → NP_115986.3  membrane-spanning 4-domains subfamily A member 14 isoform 1

      See identical proteins and their annotated locations for NP_115986.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) has multiple coding region differences, compared to variant 4, which results in a shorter protein (isoform 1), compared to isoform 4.
      Source sequence(s)
      AP003127, AY094610
      Consensus CDS
      CCDS31569.1
      UniProtKB/Swiss-Prot
      E9PJE3, Q2TVT5, Q3B7W3, Q86XH8, Q96JA4, Q9NTC2
      UniProtKB/TrEMBL
      F6X344
      Related
      ENSP00000300187.6, ENST00000300187.11
      Conserved Domains (1) summary
      pfam04103
      Location:44 → 147
      CD20; CD20-like family

    RNA

    1. NR_049731.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) includes an alternate exon in the coding region, compared to variant 4, which results in the introduction of an early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein product is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK057418, AP003127
      Related
      ENST00000530662.5

    2. NR_049732.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) includes an alternate exon in the coding region, compared to variant 4, which results in the introduction of an early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein product is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP003127, BC064627
      Related
      ENST00000525397.5

    3. NR_049733.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) includes an alternate exon in the coding region, compared to variant 4, which results in the introduction of an early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein product is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK057418, AP003127, BC035361
      Related
      ENST00000527841.5

    4. NR_049734.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) includes an alternate exon in the coding region, compared to variant 4, which results in the introduction of an early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein product is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP003127, DB450359

    5. NR_178028.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CP068267

    6. NR_178029.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CP068267

    7. NR_178030.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CP068267

    8. NR_178031.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      CP068267

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      60396459..60417756
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      60347724..60368988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JA4.2 GenPept UniProtKB/Swiss-Prot:Q96JA4

    Gene LinkOut

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

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