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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]
MUC16 (Mucin 16, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC16 include Ovarian Cyst and Clear Cell Adenocarcinoma. Among its related pathways are Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) and Metabolism of proteins.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH19J009009 | Enhancer | 0.3 | FANTOM5 | 611.9 | +0.4 | 350 | 0.2 | POLR2A | MUC16 HSALNG0123795 ZNF558 | |
GH19J009008 | Enhancer | 0.3 | ENCODE | 600.7 | +1.5 | 1510 | 0.2 | ESR1 | MUC16 HSALNG0123795 ZNF558 | |
GH19J009074 | Enhancer | 1.1 | ENCODE CraniofacialAtlas | 22.5 | -65.1 | -65147 | 1.7 | PRDM10 ZNF629 LEF1 IKZF1 ZNF692 JUND ZIC2 PKNOX1 PATZ1 REST | MUC16 ZNF414 LOC100419831 ZNF559 ZNF558 HNRNPM ZNF266 OR7G1 ZNF699 ZNF121 | |
GH19J009052 | Enhancer | 0.8 | ENCODE | 26.4 | -44.1 | -44099 | 3.7 | PRDM10 KDM1A FOXA1 RFX1 ZIC2 REST ARNT SP1 SMARCC1 ATF3 | MUC16 ZNF177 ENSG00000267289 ENSG00000267273 ENSG00000200237 RF00017-2795 HG983750 TRQ-TTG8-1 OR1M1 | |
GH19J009069 | Enhancer | 0.6 | Ensembl ENCODE | 29.6 | -60.0 | -59981 | 1.7 | TEAD4 ZNF341 SP1 EZH2 YY1 BACH1 | MUC16 OR7G1 OR7G3 OR1M4P RF00017-2795 lnc-OR7G2-1 OR1M1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 14676194 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005796 | Golgi lumen | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) |
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2 | Diseases of glycosylation | ||
3 | Innate Immune System |
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4 | Metabolism of proteins | ||
5 | O-linked glycosylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0007155 | cell adhesion | NAS | 14676194 |
GO:0016266 | O-glycan processing | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MUC16 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Muc16 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MUC16 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MUC16 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MUC16 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MUC16 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MUC16 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MUC16 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718464 | Benign: not provided | 8,882,863(-) | C/T | SYNONYMOUS_VARIANT | |
720412 | Benign: not provided | 8,948,212(-) | C/T | MISSENSE_VARIANT | |
724122 | Benign: not provided | 8,963,211(-) | G/T | MISSENSE_VARIANT | |
726691 | Likely Benign: not provided | 8,956,342(-) | C/G | MISSENSE_VARIANT | |
726692 | Likely Benign: not provided | 8,958,627(-) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv48n68 | CNV | gain | 17160897 |
dgv621e199 | CNV | deletion | 23128226 |
esv2117991 | CNV | deletion | 18987734 |
esv2221846 | CNV | deletion | 18987734 |
esv2664410 | CNV | deletion | 23128226 |
esv2718141 | CNV | deletion | 23290073 |
esv2718142 | CNV | deletion | 23290073 |
esv2718143 | CNV | deletion | 23290073 |
esv2718144 | CNV | deletion | 23290073 |
esv2718145 | CNV | deletion | 23290073 |
esv2718146 | CNV | deletion | 23290073 |
esv2718147 | CNV | deletion | 23290073 |
esv2758744 | CNV | gain+loss | 17122850 |
esv2762024 | CNV | gain | 21179565 |
esv3347927 | CNV | insertion | 20981092 |
esv3377252 | CNV | insertion | 20981092 |
esv3555996 | CNV | deletion | 23714750 |
esv3574308 | CNV | gain | 25503493 |
esv3643623 | CNV | gain | 21293372 |
esv3643624 | CNV | loss | 21293372 |
nsv1063481 | CNV | gain | 25217958 |
nsv1066058 | CNV | gain | 25217958 |
nsv1067291 | CNV | loss | 25217958 |
nsv1067521 | CNV | loss | 25217958 |
nsv1070217 | CNV | deletion | 25765185 |
nsv1076464 | CNV | duplication | 25765185 |
nsv1118613 | CNV | duplication | 24896259 |
nsv1123217 | CNV | deletion | 24896259 |
nsv1124777 | CNV | duplication | 24896259 |
nsv1148080 | CNV | duplication | 26484159 |
nsv2406 | CNV | insertion | 18451855 |
nsv2407 | CNV | insertion | 18451855 |
nsv428362 | CNV | gain+loss | 18775914 |
nsv469648 | CNV | gain+loss | 16826518 |
nsv470123 | CNV | loss | 18288195 |
nsv473060 | CNV | novel sequence insertion | 20440878 |
nsv473504 | CNV | novel sequence insertion | 20440878 |
nsv475070 | CNV | novel sequence insertion | 20440878 |
nsv475838 | CNV | novel sequence insertion | 20440878 |
nsv476136 | CNV | novel sequence insertion | 20440878 |
nsv476877 | CNV | novel sequence insertion | 20440878 |
nsv479273 | CNV | novel sequence insertion | 20440878 |
nsv479569 | CNV | novel sequence insertion | 20440878 |
nsv479657 | CNV | novel sequence insertion | 20440878 |
nsv481459 | CNV | novel sequence insertion | 20440878 |
nsv483078 | CNV | gain+loss | 15286789 |
nsv523652 | CNV | loss | 19592680 |
nsv954645 | CNV | deletion | 24416366 |
nsv962999 | CNV | duplication | 23825009 |
nsv963000 | CNV | duplication | 23825009 |
nsv978767 | CNV | duplication | 23825009 |
nsv978768 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ovarian cyst |
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clear cell adenocarcinoma |
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serous cystadenocarcinoma |
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pleural cancer |
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cystadenocarcinoma |
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