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

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; AllianceGenome:HGNC:15582
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]
Annotation information: Annotation category: suggests misassembly; Annotation category: partial on reference assembly
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 92

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (8848844..9065751, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (8959807..9191530, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (8959520..9176427, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gender and melanoma subtype-based prognostic implications of MUC16 and TTN co-occurrent mutations in melanoma: A retrospective multi-study analysis.
Title: Gender and melanoma subtype-based prognostic implications of MUC16 and TTN co-occurrent mutations in melanoma: A retrospective multi-study analysis.
TRPV4 activation in human corneal epithelial cells promotes membrane mucin production.
Title: TRPV4 activation in human corneal epithelial cells promotes membrane mucin production.
Human Epididymis Protein 4 (HE4) and Cancer Antigen 125 (CA125) for Prediction of Optimal Primary Surgery in Non-Mucinous Epithelial Ovarian Cancer.
Title: Human Epididymis Protein 4 (HE4) and Cancer Antigen 125 (CA125) for Prediction of Optimal Primary Surgery in Non-Mucinous Epithelial Ovarian Cancer.
Comprehensive characterization of MUC16 mutations in lung adenocarcinoma for immunotherapies and prognosis: An observational study.
Title: Comprehensive characterization of MUC16 mutations in lung adenocarcinoma for immunotherapies and prognosis: An observational study.
Development and validation of a MUC16 mutation-associated immune prognostic model for lung adenocarcinoma.
Title: Development and validation of a MUC16 mutation-associated immune prognostic model for lung adenocarcinoma.
Serum CA-125 as a predictor in the early diagnosis of ectopic pregnancy in Vietnam - A case-control study.
Title: Serum CA-125 as a predictor in the early diagnosis of ectopic pregnancy in Vietnam - A case-control study.
MUC16 stimulates neutrophils to an inflammatory and immunosuppressive phenotype in ovarian cancer.
Title: MUC16 stimulates neutrophils to an inflammatory and immunosuppressive phenotype in ovarian cancer.
Diagnostic value of serum human epididymis protein 4, carbohydrate antigen 125 and their combination in endometrial cancer: A meta-analysis.
Title: Diagnostic value of serum human epididymis protein 4, carbohydrate antigen 125 and their combination in endometrial cancer: A meta-analysis.
Radiologically enlarged cardiophrenic lymph nodes and CA-125 in relation to diaphragmatic carcinomatosis, surgical outcome, and overall survival in advanced ovarian cancer.
Title: Radiologically enlarged cardiophrenic lymph nodes and CA-125 in relation to diaphragmatic carcinomatosis, surgical outcome, and overall survival in advanced ovarian cancer.
Diffusion-weighted magnetic resonance sequence and CA125/CEA ratio can be used as add-on tools to ultrasound for the differentiation of ovarian from non-ovarian pelvic masses.
Title: Diffusion-weighted magnetic resonance sequence and CA125/CEA ratio can be used as add-on tools to ultrasound for the differentiation of ovarian from non-ovarian pelvic masses.

Submit: New GeneRIF Correction See all GeneRIFs (354)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH118834 (e-PCR)
- UniSTS:138816

D19S1117 (e-PCR)
- UniSTS:66706

SHGC-111231 (e-PCR)
- UniSTS:183191

SHGC-132163 (e-PCR)
- UniSTS:170684

RH66740 (e-PCR)
- UniSTS:69071

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

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in vesicle	HDA more info	PubMed

General protein information

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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.