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MUC16 mucin 16, cell surface associated [ Homo sapiens (human) ]

Gene ID: 94025, updated on 16-Aug-2021

Summary

Official Symbol
MUC16provided by HGNC
Official Full Name
mucin 16, cell surface associatedprovided by HGNC
Primary source
HGNC:HGNC:15582
See related
Ensembl:ENSG00000181143 MIM:606154
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CA125
Summary
This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See MUC16 in Genome Data Viewer
Location:
19p13.2
Exon count:
88
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (8848840..9010390, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8959520..9092018, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 78 Neighboring gene olfactory receptor family 2 subfamily Z member 1 Neighboring gene zinc finger protein 558 Neighboring gene methyl-CpG binding domain protein 3 like 1 Neighboring gene bolA family member 3 pseudogene 2 Neighboring gene tRNA-Gln (anticodon TTG) 8-1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14303

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 adhesion NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
mucin-16
Names
CA125 ovarian cancer antigen
cancer antigen 125
ovarian cancer-related tumor marker CA125
ovarian carcinoma antigen CA125

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.

Genomic

  1. NG_055257.1 RefSeqGene

    Range
    34049..166547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024690.2NP_078966.2  mucin-16

    See identical proteins and their annotated locations for NP_078966.2

    Status: REVIEWED

    Source sequence(s)
    AC008734, AC016584, AF361486, AF414442, AK128681, AK128857, BF359193, BI256451
    Consensus CDS
    CCDS54212.1
    UniProtKB/Swiss-Prot
    Q8WXI7
    UniProtKB/TrEMBL
    B3KY81
    Related
    ENSP00000381008.2, ENST00000397910.8
    Conserved Domains (1) summary
    pfam01390
    Location:1347913576
    SEA; SEA domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    8848840..9010390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027500.1XP_016882989.1  mucin-16 isoform X12

  2. XM_017027499.1XP_016882988.1  mucin-16 isoform X11

  3. XM_017027493.1XP_016882982.1  mucin-16 isoform X8

  4. XM_017027490.1XP_016882979.1  mucin-16 isoform X5

  5. XM_017027492.1XP_016882981.1  mucin-16 isoform X7

  6. XM_017027494.1XP_016882983.1  mucin-16 isoform X9

  7. XM_017027487.1XP_016882976.1  mucin-16 isoform X2

  8. XM_017027495.1XP_016882984.1  mucin-16 isoform X10

  9. XM_017027491.1XP_016882980.1  mucin-16 isoform X6

  10. XM_017027488.1XP_016882977.1  mucin-16 isoform X3

  11. XM_017027486.1XP_016882975.1  mucin-16 isoform X1

  12. XM_017027489.1XP_016882978.1  mucin-16 isoform X4

  13. XM_017027501.1XP_016882990.1  mucin-16 isoform X13

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