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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
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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

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