MUC16 Gene (Protein Coding)

Mucin 16, Cell Surface Associated

GC19M008848
GIFtS:
37
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 d... See more...

Aliases for MUC16 Gene

Aliases for MUC16 Gene

  • Mucin 16, Cell Surface Associated 2 3 5
  • Ovarian Cancer-Related Tumor Marker CA125 3 4
  • Ovarian Carcinoma Antigen CA125 3 4
  • Mucin-16 3 4
  • CA125 3 4
  • CA125 Ovarian Cancer Antigen 3
  • Mucin-16 Short Isoform 3
  • Mucin-16 Long Isoform 3
  • CA-125 4
  • MUC-16 4

External Ids for MUC16 Gene

Previous GeneCards Identifiers for MUC16 Gene

  • GC19M009087
  • GC19M009182
  • GC19M008805
  • GC19M008820
  • GC19U900441
  • GC19M008904
  • GC19M008960
  • GC19M008584

Summaries for MUC16 Gene

Entrez Gene Summary for MUC16 Gene

  • 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]

GeneCards Summary for MUC16 Gene

MUC16 (Mucin 16, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC16 include Clear Cell Adenocarcinoma and Ovarian Cyst. Among its related pathways are CLEC7A (Dectin-1) signaling and Defective GALNT12 causes colorectal cancer 1 (CRCS1).

UniProtKB/Swiss-Prot Summary for MUC16 Gene

  • Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces.

Gene Wiki entry for MUC16 Gene

Additional gene information for MUC16 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUC16 Gene

Genomics for MUC16 Gene

GeneHancer (GH) Regulatory Elements for MUC16 Gene

Promoters and enhancers for MUC16 Gene
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
GH19J009074 Enhancer 1.1 ENCODE CraniofacialAtlas 22.4 -94.2 -94195 1.7 SMARCE1 TCF7L2 RUNX1 MYC L3MBTL2 MAX DACH1 TEAD4 ZNF148 ZBTB33 ZNF558 MUC16 ZNF699 FBXL12 ZNF414 LOC100419831 ZNF559 HNRNPM ZNF266 OR7G1
GH19J009052 Enhancer 0.8 ENCODE 26.3 -73.1 -73147 3.7 CTBP1 MNT NFIB ZNF384 MAFK FOSL2 PKNOX1 ZIC2 PRDM10 SMARCC1 MUC16 ZNF266 HNRNPM ZNF317 ZNF699 FBXL12 ZNF558 ZNF121 ZNF561 ZNF414
GH19J009049 Enhancer 0.7 Ensembl ENCODE 25.9 -69.1 -69090 1.4 POLR2A RCOR1 SCRT2 USF2 ZNF623 PRDM10 MUC16 ZNF266 RF00017-2793 HG983750 TRQ-TTG8-1
GH19J009069 Enhancer 0.6 Ensembl ENCODE 29.5 -89.0 -89029 1.7 SP1 EZH2 BACH1 MUC16 OR7G1 OR7G3 RF00017-2793 lnc-OR7G2-1 OR1M4P
GH19J009057 Enhancer 0.8 Ensembl ENCODE 11 -77.8 -77803 2.5 POLR2A CTBP1 ZNF384 PKNOX1 ZIC2 ZBTB8A ATF1 CEBPB REST SP1 RF00017-2793 MUC16 OR7D2 OR1M4P lnc-OR7G2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC16 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MUC16 Gene

Genomic Locations for MUC16 Gene
chr19:8,848,844-8,981,342
(GRCh38/hg38)
Size:
132,499 bases
Orientation:
Minus strand
chr19:8,959,520-9,092,018
(GRCh37/hg19)
Size:
132,499 bases
Orientation:
Minus strand

Genomic View for MUC16 Gene

Genes around MUC16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC16 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MUC16 Gene

Proteins for MUC16 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MUC16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXI7-MUC16_HUMAN
    Recommended name:
    Mucin-16
    Protein Accession:
    Q8WXI7
    Secondary Accessions:
    • B5ME49
    • Q6ZQW5
    • Q96RK2

    Protein attributes for MUC16 Gene

    Size:
    14507 amino acids
    Molecular mass:
    1519175 Da
    Quaternary structure:
    • Binds to MSLN. Binding to MSLN mediates heterotypic cell adhesion. This may contribute to the metastasis of ovarian cancer to the peritoneum by initiating cell attachment to the mesothelial epithelium via binding to MSLN.
    Miscellaneous:
    • Antigen that is the basis for a widely used serum assay for the monitoring of patients with ovarian epithelial cancer. Due to lack of sensitivity for stage I disease and lack of specificity, it is of little value in the detection of early ovarian cancer. Due to its similarly elevated levels in some nonmalignant conditions, it is not specific enough to be used for population screening.
    SequenceCaution:
    • Sequence=AAL65133.2; Type=Frameshift; Positions=3905, 3924, 3940; Evidence={ECO:0000305}; Sequence=BAC87568.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for MUC16 Gene

Protein Expression for MUC16 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MUC16 Gene

  • Heavily O-glycosylated; expresses both type 1 and type 2 core glycans.
  • Heavily N-glycosylated; expresses primarily high mannose and complex bisecting type N-linked glycans.
  • May be phosphorylated. Phosphorylation of the intracellular C-terminal domain may induce proteolytic cleavage and the liberation of the extracellular domain into the extracellular space.
  • May contain numerous disulfide bridges. Association of several molecules of the secreted form may occur through interchain disulfide bridges providing an extraordinarily large gel-like matrix in the extracellular space or in the lumen of secretory ducts.
  • Glycosylation at Asn139, Asn434, Ser472, Ser475, Ser477, Thr480, Ser620, Thr623, Thr624, Thr628, Ser708, Ser709, Thr718, Asn787, Ser908, Ser912, Ser913, Ser914, Ser918, Asn930, Asn957, Asn1375, Thr1512, Ser1514, Thr1515, Thr1516, Asn1633, Asn1840, Ser1864, Thr1867, Thr1870, Asn1877, Asn1890, Asn2345, Asn2375, Asn2737, Thr2982, Asn3085, Ser3146, Ser3147, Ser3149, Asn3178, Ser3210, Ser3211, Ser3215, Ser3217, Thr3390, Ser3395, Thr3396, Thr3397, Ser3401, Thr3402, Thr3415, Ser3416, Asn3501, Ser3795, Thr3799, Ser3801, Thr3806, Ser3807, Thr3813, Ser3814, Thr3815, Thr3819, Thr3820, Thr3821, Ser3822, Ser3831, Thr3834, Thr3835, Thr3842, Thr4007, Ser4011, Thr4014, Ser4058, Ser4059, Ser4065, Thr4130, Ser4132, Thr4135, Thr4136, Asn4220, Thr4250, Thr4255, Ser4256, Ser4260, Thr4266, Ser4269, Asn4498, Asn4606, Asn4613, Asn4624, Ser4660, Ser4663, Asn4861, Thr5091, Asn5096, Asn5131, Thr5185, Thr5189, Asn5228, Ser5234, Thr5235, Ser5241, Thr5242, Thr5247, Thr5249, Thr5257, Ser5258, Ser5259, Thr5262, Asn5320, Asn5394, Asn5470, Thr5553, Ser5554, Thr5558, Asn5689, Thr5774, Ser5776, Thr5777, Ser5778, Ser5779, Asn5863, Ser5900, Thr5903, Thr5904, Thr5905, Thr6071, Ser6072, Asn6088, Thr6263, Thr6273, Ser6358, Thr6360, Thr6361, Ser6363, Ser6381, Thr6383, Ser6384, Thr6385, Thr6392, Thr6395, Thr6396, Thr6429, Ser6432, Thr6433, Thr6438, Thr6444, Thr6447, Thr6449, Thr6575, Thr6576, Ser6577, Thr6583, Thr6682, Thr6683, Thr6686, Thr6688, Ser6689, Thr6691, Ser6695, Asn6732, Asn6859, Ser6945, Thr6946, Ser6948, Thr6950, Asn6961, Ser7069, Thr7072, Thr7073, Ser7076, Ser7240, Ser7242, Ser7243, Ser7365, Thr7368, Thr7369, Ser7372, Ser7534, Ser7538, Ser7539, Thr7541, Thr7542, Ser7608, Ser7610, Ser7611, Thr7614, Ser7616, Ser7674, Ser7677, Thr7823, Ser7827, Ser7828, Thr7830, Ser7958, Ser7961, Asn8029, Asn8055, Thr8113, Thr8116, Ser8117, Ser8118, Thr8120, Ser8237, Ser8239, Thr8242, Thr8243, Ser8246, Asn8324, Thr8411, Ser8412, Thr8415, Ser8416, Ser8534, Thr8537, Thr8538, Ser8541, Asn8618, Ser8642, Ser8643, Thr8645, Thr8652, Asn8684, Ser8714, Thr8715, Ser8716, Thr8719, Ser8720, Ser8721, Thr8723, Thr8791, Ser8797, Ser8798, Thr8803, Ser8807, Ser8808, Ser8811, Thr8815, Ser8817, Thr8820, Ser8840, Ser8843, Thr8884, Thr8888, Asn8913, Thr9007, Ser9008, Thr9009, Ser9010, Thr9017, Ser9020, Thr9021, Asn9202, Thr9363, Thr9368, Asn9493, Thr9551, Ser9552, Ser9714, Thr9716, Ser9717, Asn9785, Ser9809, Thr9812, Thr9869, Thr9872, Ser9874, Thr9876, Ser9994, Thr9997, Thr9998, Ser10001, Ser10003, Asn10075, Asn10173, Ser10299, Ser10301, Thr10424, Thr10426, Thr10434, Thr10445, Thr10454, Ser10455, Thr10456, Ser10457, Ser10460, Asn10510, Thr10679, Thr10681, Thr10682, Thr10685, Thr10690, Ser10691, Ser10692, Asn10700, Asn10749, Thr10794, Ser10795, Thr10798, Ser10799, Asn11053, Asn11224, Asn11263, Asn11367, Asn11594, Thr11608, Ser11609, Ser11836, Thr11838, Ser11840, Ser11844, Ser11963, Thr11965, Asn12079, Asn12100, Asn12116, Asn12168, Asn12235, Asn12272, Asn12393, Asn12414, Asn12430, Asn12549, Asn12570, Asn12586, Asn12704, Asn12725, Asn12741, Asn12824, Asn12860, Asn12881, Asn12897, Asn13016, Asn13037, Asn13053, Asn13172, Asn13193, Asn13328, Asn13349, Asn13365, Asn13484, Asn13505, Asn13521, Asn13640, Asn13661, Asn13733, Asn13744, Ser13774, Thr13776, Asn13796, Asn13816, Asn13832, Asn13929, Asn13950, Asn14080, Asn14100, Asn14195, Asn14212, Asn14254, Asn14287, Asn14326, Asn14363, Asn14417, and Asn14423
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC16 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MUC16

Protein Products

  • Abcam proteins for MUC16

No data available for DME Specific Peptides for MUC16 Gene

Domains & Families for MUC16 Gene

Gene Families for MUC16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for MUC16 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MUC16 Gene

GenScript: Design optimal peptide antigens:
  • Ovarian carcinoma antigen CA125 (MUC16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXI7

UniProtKB/Swiss-Prot:

MUC16_HUMAN :
  • Composed of three domains, a Ser-, Thr-rich N-terminal domain, a repeated domain containing between 12 and 60 partially conserved tandem repeats of 156 amino acids and a C-terminal transmembrane contain domain with a short cytoplasmic tail.
Domain:
  • Composed of three domains, a Ser-, Thr-rich N-terminal domain, a repeated domain containing between 12 and 60 partially conserved tandem repeats of 156 amino acids and a C-terminal transmembrane contain domain with a short cytoplasmic tail.
genes like me logo Genes that share domains with MUC16: view

Function for MUC16 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MUC16 Gene

UniProtKB/Swiss-Prot Function:
Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces.
UniProtKB/Swiss-Prot Induction:
Up-regulated in ovarian cancer cells.

Phenotypes From GWAS Catalog for MUC16 Gene

Gene Ontology (GO) - Molecular Function for MUC16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14676194
genes like me logo Genes that share ontologies with MUC16: view
genes like me logo Genes that share phenotypes with MUC16: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MUC16

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MUC16 Gene

Localization for MUC16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC16 Gene

Cell membrane; Single-pass type I membrane protein. Secreted, extracellular space. Note=May be liberated into the extracellular space following the phosphorylation of the intracellular C-terminus which induces the proteolytic cleavage and liberation of the extracellular domain.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUC16 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
cytoskeleton 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MUC16 Gene

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 --
genes like me logo Genes that share ontologies with MUC16: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUC16 Gene

Pathways & Interactions for MUC16 Gene

genes like me logo Genes that share pathways with MUC16: view

Gene Ontology (GO) - Biological Process for MUC16 Gene

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 --
genes like me logo Genes that share ontologies with MUC16: view

No data available for SIGNOR curated interactions for MUC16 Gene

Drugs & Compounds for MUC16 Gene

Products:

  1. Drug

(26) Drugs for MUC16 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oregovomab Investigational Pharma Target, antigen immunological response against cancer antigen 11
Abagovomab Pharma 3
DMUC5754A Pharma unknown, inhibitor 0
OREGOVAMAB Pharma 0

(14) Additional Compounds for MUC16 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MUC16: view

Transcripts for MUC16 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MUC16 Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUC16 Gene

No ASD Table

Relevant External Links for MUC16 Gene

GeneLoc Exon Structure for
MUC16
ECgene alternative splicing isoforms for
MUC16

Expression for MUC16 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUC16 Gene

mRNA expression in normal human tissues for MUC16 Gene
mRNA expression by GTEx for MUC16 GenemRNA expression by BioGPS for MUC16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC16 Gene

This gene is overexpressed in Cervix - Endocervix (x24.2), Minor Salivary Gland (x8.7), and Adipose - Visceral (Omentum) (x8.3).

Protein differential expression in normal tissues from HIPED for MUC16 Gene

This gene is overexpressed in Cervix (19.9), Breast (18.8), Liver (11.8), and Platelet (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUC16 Gene



NURSA nuclear receptor signaling pathways regulating expression of MUC16 Gene:

MUC16

SOURCE GeneReport for Unigene cluster for MUC16 Gene:

Hs.432676

mRNA Expression by UniProt/SwissProt for MUC16 Gene:

Q8WXI7-MUC16_HUMAN
Tissue specificity: Expressed in corneal and conjunctival epithelia (at protein level). Overexpressed in ovarian carcinomas and ovarian low malignant potential (LMP) tumors as compared to the expression in normal ovarian tissue and ovarian adenomas.

Evidence on tissue expression from TISSUES for MUC16 Gene

  • Eye(2.2)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with MUC16: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC16 Gene

Orthologs for MUC16 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MUC16 32
  • 94.14 (n)
mouse
(Mus musculus)
 Mammalia Muc16 33
  • 71 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MUC16 33
  • 69 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia MUC16 33
  • 66 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MUC16 33
  • 52 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MUC16 33
  • 51 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MUC16 33
  • 40 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MUC16 33
  • 40 (a)
 OneToOne
Species where no ortholog for MUC16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MUC16 Gene

ENSEMBL:
Gene Tree for MUC16 (if available)
TreeFam:
Gene Tree for MUC16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUC16: view image

Paralogs for MUC16 Gene

No data available for Paralogs for MUC16 Gene

Variants for MUC16 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for MUC16 Gene

MUC16_HUMAN-Q8WXI7
The number of repeats is highly polymorphic and can be composed between 12 and 60 extracellular mucin repeats.

Sequence variations from dbSNP and Humsavar for MUC16 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs200019597 benign, Abnormality of neuronal migration 8,974,184(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant
rs747068729 benign, Abnormality of neuronal migration 8,978,638(-) CTCTCT/CTCT coding_sequence_variant, frameshift, genic_upstream_transcript_variant, intron_variant
rs759867982 benign, Abnormality of neuronal migration 8,974,160(-) AA/A coding_sequence_variant, frameshift, genic_upstream_transcript_variant, intron_variant
rs78804712 benign, Abnormality of neuronal migration 8,950,404(-) G/A/C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs863223378 benign, Abnormality of neuronal migration 8,950,590(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MUC16 Gene

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

Variation tolerance for MUC16 Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 31.77; 99.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUC16 Gene

Human Gene Mutation Database (HGMD)
MUC16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC16

SNP Genotyping and Copy Number Assay Products

Disorders for MUC16 Gene

MalaCards: The human disease database

(47) MalaCards diseases for MUC16 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
clear cell adenocarcinoma
  • malignant mesonephroma
ovarian cyst
  • ovarian cysts
serous cystadenocarcinoma
  • serous adenocarcinoma
lymphatic malformation 5
  • lmphm5
childhood ovarian cancer
  • ovarian carcinoma, childhood
- elite association - COSMIC cancer census association via MalaCards
Search MUC16 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MUC16

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for UniProtKB/Swiss-Prot and Genatlas for MUC16 Gene

Publications for MUC16 Gene

  1. Introducing the MUC16 gene: implications for prevention and early detection in epithelial ovarian cancer. (PMID: 15788735) McLemore MR … Aouizerat B (Biological research for nursing 2005) 3 4 23 56
  2. Characterization of the oligosaccharides associated with the human ovarian tumor marker CA125. (PMID: 12734200) Kui Wong N … Patankar MS (The Journal of biological chemistry 2003) 3 4 23 56
  3. Molecular cloning of the CA125 ovarian cancer antigen: identification as a new mucin, MUC16. (PMID: 11369781) Yin BW … Lloyd KO (The Journal of biological chemistry 2001) 2 3 4 56
  4. MUC16 expression and risk of adenocarcinoma metastases to peritoneum, pleura, leptomeninges, and brain. (PMID: 20090516) Johnson MD … Xu H (Applied immunohistochemistry & molecular morphology : AIMM 2010) 3 23 56
  5. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PMID: 19064572) Palmieri RT … Australian Ovarian Cancer Study Group (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 43 56

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