MUC12 mucin 12, cell surface associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUC12provided by HGNC
Official Full Name: mucin 12, cell surface associatedprovided by HGNC
Primary source: HGNC:HGNC:7510
See related: Ensembl:ENSG00000205277 MIM:604609; AllianceGenome:HGNC:7510
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: MUC11; MUC-11; MUC-12
Summary: This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]
Expression: Restricted expression toward colon (RPKM 48.0) See more
Orthologs: all
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Genomic context

Location:: 7q22.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100969565..101018936)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (102274808..102341752)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100612846..100662217)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

piRNA-1742 promotes renal cell carcinoma malignancy by regulating USP8 stability through binding to hnRNPU and thereby inhibiting MUC12 ubiquitination.
Title: piRNA-1742 promotes renal cell carcinoma malignancy by regulating USP8 stability through binding to hnRNPU and thereby inhibiting MUC12 ubiquitination.
The oncogenic role of MUC12 in RCC progression depends on c-Jun/TGF-beta signalling.
Title: The oncogenic role of MUC12 in RCC progression depends on c-Jun/TGF-β signalling.
Mucin12 is a protein that shows common antigenicity in both A. lumbricoides and its human host.
Title: Shared expression of mucin12 in Ascaris lumbricoides and the human small intestine.
Patients with active ulcerative colitis(UC) showed no significant expression of MUC12 gene in mucosa compared to the group of patients with UC in remission
Title: Differential Expression of MUC12, MUC16, and MUC20 in Patients with Active and Remission Ulcerative Colitis.
Multivariate analysis disclosed that MUC12 expression status was an independent prognostic factor in Stages II and III CRC (relative risk, 8.236; 95% confidence interval, 1.702-39.849 p = 0.009).
Title: MUC12 mRNA expression is an independent marker of prognosis in stage II and stage III colorectal cancer.
Reflux laryngitis is associated with down-regulation of mucin gene expression.
Title: Mucin gene expression in human laryngeal epithelia: effect of laryngopharyngeal reflux.

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Phenotypes

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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

D7S797E (e-PCR)
- UniSTS:45063

D7S3097 (e-PCR)
- UniSTS:186665

D7S3099 (e-PCR)
- UniSTS:186667

RH48096 (e-PCR)
- UniSTS:15677

GDB:4585235 (e-PCR)
- UniSTS:3930

GDB:4585389 (e-PCR)
- UniSTS:79458

D7S3180 (e-PCR)
- UniSTS:225963

SHGC-147897 (e-PCR)
- UniSTS:176078

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucin-12

Names: mucin-11

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.

Genomic

NG_053126.1 RefSeqGene

Range

4943..54314

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164462.2 → NP_001157934.1 mucin-12 precursor

Status: REVIEWED

Source sequence(s)

AC105446, AC254629

Consensus CDS

CCDS55139.1

UniProtKB/Swiss-Prot

Q9UKN1

Related

ENSP00000441929.1, ENST00000536621.6

Conserved Domains (1) summary

pfam01390
Location:5032 → 5119

SEA; SEA domain