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MS4A18 membrane spanning 4-domains A18 [ Homo sapiens (human) ]

Gene ID: 728588, updated on 2-Nov-2024

Summary

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Official Symbol
MS4A18provided by HGNC
Official Full Name
membrane spanning 4-domains A18provided by HGNC
Primary source
HGNC:HGNC:37636
See related
Ensembl:ENSG00000214782 AllianceGenome:HGNC:37636
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
Biased expression in duodenum (RPKM 4.4) and small intestine (RPKM 0.9) See more
Orthologs
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Genomic context

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See MS4A18 in Genome Data Viewer
Location:
11q12.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60724720..60745028)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60675883..60696189)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60492193..60512501)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes 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 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60468129-60468630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60468631-60469130 Neighboring gene membrane spanning 4-domains A8 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:60520950-60521161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60541913-60542544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60542545-60543174 Neighboring gene membrane spanning 4-domains A15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60543175-60543804 Neighboring gene uncharacterized LOC105369322 Neighboring gene membrane spanning 4-domains A10

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. 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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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)

General gene information

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Homology

Gene Ontology Provided by GOA

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 18

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_001354471.3 → NP_001341400.1  membrane-spanning 4-domains subfamily A member 18

    Status: VALIDATED

    Source sequence(s)
    AP004243
    UniProtKB/Swiss-Prot
    H0YCH9, Q3C1V0
    Related
    ENSP00000431607.3, ENST00000529108.6
    Conserved Domains (2) summary
    pfam04103
    Location:155 → 244
    CD20; CD20-like family
    cl00232
    Location:287 → 366
    Ribosomal_L19e; Ribosomal protein L19e. L19e is found in the large ribosomal subunit of eukaryotes and archaea. L19e is distinct from the ribosomal subunit L19, which is found in prokaryotes. It consists of two small globular domains connected by an extended segment. ...

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
    60724720..60745028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    60675883..60696189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001310141.1: Suppressed sequence

    Description
    NM_001310141.1: This RefSeq was removed because there is currently insufficient support for the transcript and protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3C1V0.4 GenPept UniProtKB/Swiss-Prot:Q3C1V0

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials