MUC13 mucin 13, cell surface associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUC13provided by HGNC
Official Full Name: mucin 13, cell surface associatedprovided by HGNC
Primary source: HGNC:HGNC:7511
See related: Ensembl:ENSG00000173702 MIM:612181; AllianceGenome:HGNC:7511
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DRCC1; MUC-13
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]
Expression: Biased expression in duodenum (RPKM 317.3), small intestine (RPKM 271.9) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (124905442..124934751, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (127630861..127660325, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (124624289..124653595, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MUC13 negatively regulates tight junction proteins and intestinal epithelial barrier integrity via protein kinase C.
Title: MUC13 negatively regulates tight junction proteins and intestinal epithelial barrier integrity via protein kinase C.
MUC13 drives cancer aggressiveness and metastasis through the YAP1-dependent pathway.
Title: MUC13 drives cancer aggressiveness and metastasis through the YAP1-dependent pathway.
Long noncoding RNA BBOX1-AS1 promotes the progression of gastric cancer by regulating the miR-361-3p/Mucin 13 signaling axis.
Title: Long noncoding RNA BBOX1-AS1 promotes the progression of gastric cancer by regulating the miR-361-3p/Mucin 13 signaling axis.
MUC13 promotes intrahepatic cholangiocarcinoma progression via EGFR/PI3K/AKT pathways.
Title: MUC13 promotes intrahepatic cholangiocarcinoma progression via EGFR/PI3K/AKT pathways.
Biophysical changes caused by altered MUC13 expression in pancreatic cancer cells.
Title: Biophysical changes caused by altered MUC13 expression in pancreatic cancer cells.
Cyst fluid MUC13 expression was significantly greater in high-risk intraductal papillary mucinous neoplasms.
Title: Transmembrane mucin MUC13 distinguishes intraductal papillary mucinous neoplasms from non-mucinous cysts and is associated with high-risk lesions.
High MUC13 expression is associated with colitis-associated colorectal tumors.
Title: MUC13 promotes the development of colitis-associated colorectal tumors via β-catenin activity.
Nuclear MUC13 expression positively correlated with nodal metastasis, invasion of cancer to peripheral tissues and poor patient survival in pancreatic ductal adenocarcinoma.
Title: Clinical significance of MUC13 in pancreatic ductal adenocarcinoma.
Overexpression of MUC13 plays a critical role in the development and progression of hepatocellular carcinoma by activating Wnt signaling.
Title: Overexpression of MUC13, a Poor Prognostic Predictor, Promotes Cell Growth by Activating Wnt Signaling in Hepatocellular Carcinoma.
The results suggest that MUC13 overexpression and loss of expression of AGR2 may predict the progression of Intraductal papillary mucinous neoplasm and an unfavorable prognosis in patients with Intraductal papillary mucinous neoplasm
Title: Clinicopathological and prognostic significance of MUC13 and AGR2 expression in intraductal papillary mucinous neoplasms of the pancreas.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

MUC13_1868 (e-PCR)
- UniSTS:280859

SHGC-155142 (e-PCR)
- UniSTS:183732

SHGC-155143 (e-PCR)
- UniSTS:183733

SHGC-77291 (e-PCR)
- UniSTS:45564

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in maintenance of gastrointestinal epithelium	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucin-13

Names: down-regulated in colon cancer 1; mucin 13, epithelial transmembrane

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.