MUC13 (mucin 13, cell surface associated)

Gene

• Entrez ID: 56667
• Gene name: Mucin 13, cell surface associated
• Gene symbol: MUC13
• Synonyms (NCBI Gene): DRCC1, MUC-13
• Chromosome: 3
• Chromosome location: 3q21.2
• Summary: Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019433	hsa-miR-148b-3p	Microarray	17612493
MIRT021860	hsa-miR-132-3p	Microarray	17612493
MIRT022029	hsa-miR-128-3p	Microarray	17612493
MIRT021860	hsa-miR-132-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28339011
MIRT021860	hsa-miR-132-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28339011
MIRT1166061	hsa-miR-1179	CLIP-seq
MIRT1166062	hsa-miR-1183	CLIP-seq
MIRT1166063	hsa-miR-1226	CLIP-seq
MIRT1166064	hsa-miR-186	CLIP-seq
MIRT1166065	hsa-miR-3134	CLIP-seq
MIRT1166066	hsa-miR-3144-5p	CLIP-seq
MIRT1166067	hsa-miR-345	CLIP-seq
MIRT1166068	hsa-miR-3613-3p	CLIP-seq
MIRT1166069	hsa-miR-3649	CLIP-seq
MIRT1166070	hsa-miR-3653	CLIP-seq
MIRT1166071	hsa-miR-3657	CLIP-seq
MIRT1166072	hsa-miR-3658	CLIP-seq
MIRT1166073	hsa-miR-3919	CLIP-seq
MIRT1166074	hsa-miR-3929	CLIP-seq
MIRT1166075	hsa-miR-4256	CLIP-seq
MIRT1166076	hsa-miR-4419b	CLIP-seq
MIRT1166077	hsa-miR-4478	CLIP-seq
MIRT1166078	hsa-miR-4534	CLIP-seq
MIRT1166079	hsa-miR-4649-3p	CLIP-seq
MIRT1166080	hsa-miR-4663	CLIP-seq
MIRT1166081	hsa-miR-4732-5p	CLIP-seq
MIRT1166082	hsa-miR-4733-3p	CLIP-seq
MIRT1166083	hsa-miR-4778-5p	CLIP-seq
MIRT1166084	hsa-miR-4779	CLIP-seq
MIRT1166085	hsa-miR-4802-5p	CLIP-seq
MIRT1166086	hsa-miR-548a-3p	CLIP-seq
MIRT1166087	hsa-miR-548ae	CLIP-seq
MIRT1166088	hsa-miR-548aj	CLIP-seq
MIRT1166089	hsa-miR-548am	CLIP-seq
MIRT1166090	hsa-miR-548e	CLIP-seq
MIRT1166091	hsa-miR-548f	CLIP-seq
MIRT1166092	hsa-miR-548g	CLIP-seq
MIRT1166093	hsa-miR-548x	CLIP-seq
MIRT1166094	hsa-miR-570	CLIP-seq
MIRT1166095	hsa-miR-607	CLIP-seq
MIRT1166096	hsa-miR-628-5p	CLIP-seq
MIRT1166097	hsa-miR-765	CLIP-seq
MIRT2048000	hsa-miR-3652	CLIP-seq
MIRT2048001	hsa-miR-378	CLIP-seq
MIRT2048002	hsa-miR-378b	CLIP-seq
MIRT2048003	hsa-miR-378c	CLIP-seq
MIRT2048004	hsa-miR-378d	CLIP-seq
MIRT2048005	hsa-miR-378e	CLIP-seq
MIRT2048006	hsa-miR-378f	CLIP-seq
MIRT2048007	hsa-miR-378h	CLIP-seq
MIRT2048008	hsa-miR-378i	CLIP-seq
MIRT2048009	hsa-miR-422a	CLIP-seq
MIRT2048010	hsa-miR-4430	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	11278439
GO:0005796	Component	Golgi lumen	TAS
GO:0005829	Component	Cytosol	IMP	11278439
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	11278439
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030277	Process	Maintenance of gastrointestinal epithelium	IMP	17058067
GO:0042803	Function	Protein homodimerization activity	IDA	11278439
GO:0071944	Component	Cell periphery	IEA

Other IDs

• MIM: 612181
• HGNC: 7511
• e!Ensembl: ENSG00000173702

Protein

• UniProt ID: Q9H3R2
• Protein name: Mucin-13 (MUC-13) (Down-regulated in colon cancer 1)
• Protein function: Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01390	SEA	214 → 323	SEA domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in epithelial tissues, particularly those of the gastrointestinal and respiratory tracts, such as large intestine and trachea, followed by kidney, small intestine, appendix and stomach. {ECO:0000269|PubMed:11278439}.
• Sequence:

  MKAIIHLTLLALLSVNTATNQGNSADAVTTTETATSGPTVAAADTTETNFPETASTTANT
  PSFPTATSPAPPIISTHSSSTIPTPAPPIISTHSSSTIPIPTAADSESTTNVNSLATSDI
  ITASSPNDGLITMVPSETQSNNEMSPTTEDNQSSGPPTGTALLETSTLNSTGPSNPCQDD
  PCADNSLCVKLHNTSFCLCLEGYYYNSSTCKKGKVFPGKISVTVSETFDPEEKHSMAYQD
  LHSEITSLFKDVFGTSVYGQTVILTVSTSLSPRSEMRADDKFVNVTIVTILAETTSDNEK
  TVTEKINKAIRSSSSNFLNYDLTLRCDYYGCNQTADDCLNGLACDCKSDLQRPNPQSPFC
  VASSLKCPDACNAQHKQCLIKKSGGAPECACVPGYQEDANGNCQKCAFGYSGLDCKDKFQ
  LILTIVGTIAGIVILSMIIALIVTARSNNKTKHIEEENLIDEDFQNLKLRSTGFTNLGAE
  GSVFPKVRITASRDSQMQNPYSRHSSMPRPDY

• Sequence length: 512

Pathways

Reactome:

Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
Dectin-2 family
O-linked glycosylation of mucins
Termination of O-glycan biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NARCOLEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25277192, 27321183, 29352660		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15904467, 37116131	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	26323930	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29768245		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30700707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27321183, 29352660	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27911274	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19176398, 23708057, 25048476		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28191818, 31427737		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22914648, 24097071		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27399336, 31427737		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22914648, 24097071, 37116131	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31427737		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27911274, 28205224		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17058067		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	29768245		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37062177	Inhibit	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19176398, 23708057		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26323930	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29441861		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29441861		★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	32541515	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	17058067		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23149663, 29768245		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	20398667	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	27911274		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31837357		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29174628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19176398, 25048476		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25277192, 27507554, 29352660, 29467405		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15904467		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23149663, 25048476, 27321183, 27399336, 28205224, 29352660, 29467405, 29768245, 31427737, 31837357		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22914648, 24097071		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29768245		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32541515	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22914648, 26673820, 27507554, 27911274, 28205224, 29174628, 29352660, 29650332, 31427737		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19176398, 25048476		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	19176398		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27911274	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25277192, 27507554, 29352660, 29467405		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25277192, 27321183, 29352660		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	29467405		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27507554, 29352660, 30115565, 31927412	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28205224		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26323930		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15904467		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15904467	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20398667, 22048633, 28339011, 36700475, 37085819, 37978443	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17058067		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	29352660	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	29768245		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	29768245		★☆☆☆☆ Found in Text Mining only