MUC6 mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUC6provided by HGNC
Official Full Name: mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:7517
See related: Ensembl:ENSG00000184956 MIM:158374; AllianceGenome:HGNC:7517
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: MUC-6
Summary: This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016]
Annotation information: Annotation category: suggests misassembly
Expression: Biased expression in stomach (RPKM 174.6) and duodenum (RPKM 41.3) See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (1012823..1036718, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (1071738..1106614, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (1012823..1036718, complement)

Chromosome 11 - NC_000011.10 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 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?

Pattern of MUC6 expression across 119 different tumor types: A tissue microarray study on 15 412 tumors.
Title: Pattern of MUC6 expression across 119 different tumor types: A tissue microarray study on 15 412 tumors.
Evaluation of MUC1, MUC2, MUC5AC, and MUC6 Expression Differences in Lung Adenocarcinoma Subtypes by Using a Final Immunoreactivity Score (FIRS).
Title: Evaluation of MUC1, MUC2, MUC5AC, and MUC6 Expression Differences in Lung Adenocarcinoma Subtypes by Using a Final Immunoreactivity Score (FIRS).
MUC6 expression is a preferable prognostic marker for invasive mucinous adenocarcinoma of the lung.
Title: MUC6 expression is a preferable prognostic marker for invasive mucinous adenocarcinoma of the lung.
Glycosylation of MUC6 by alpha1,4-linked N-acetylglucosamine enhances suppression of pancreatic cancer malignancy.
Title: Glycosylation of MUC6 by α1,4-linked N-acetylglucosamine enhances suppression of pancreatic cancer malignancy.
Calponin and MUC6 complement inhibin as diagnostic immunomarkers of serous cystadenoma in endoscopic ultrasound-guided aspiration/biopsy specimens.
Title: Calponin and MUC6 complement inhibin as diagnostic immunomarkers of serous cystadenoma in endoscopic ultrasound-guided aspiration/biopsy specimens.
Diffuse expression of MUC6 defines a distinct clinicopathological subset of pulmonary invasive mucinous adenocarcinoma.
Title: Diffuse expression of MUC6 defines a distinct clinicopathological subset of pulmonary invasive mucinous adenocarcinoma.
Regulation of MUC6 Methylation Correlates with Progression of Gastric Cancer.
Title: Regulation of MUC6 Methylation Correlates with Progression of Gastric Cancer.
Associations between the expression of mucins (MUC1, MUC2, MUC5AC and MUC6) and clinicopathologic parameters of human breast carcinomas.
Title: Associations between the expression of mucins (MUC1, MUC2, MUC5AC and MUC6) and clinicopathologic parameters of human breast carcinomas.
Long noncoding RNA CASC2 suppresses pancreatic cancer cell growth and progression by regulating the miR24/MUC6 axis.
Title: Long non‑coding RNA CASC2 suppresses pancreatic cancer cell growth and progression by regulating the miR‑24/MUC6 axis.
We found evidence of late-onset Alzheimer disease-associated genetic polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another gene: AP2A2
Title: Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene.

Submit: New GeneRIF Correction See all GeneRIFs (59)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in maintenance of gastrointestinal epithelium	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucin-6

Names: gastric mucin-6

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_052845.1 RefSeqGene

Range

4989..28884

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005961.3 → NP_005952.2 mucin-6 precursor

See identical proteins and their annotated locations for NP_005952.2

Status: REVIEWED

Source sequence(s)

AC139749

Consensus CDS

CCDS44513.1

UniProtKB/Swiss-Prot

O15329, Q14394, Q2TUQ5, Q4L207, Q6W4X9, Q8N8I1, Q8NAK1

Related

ENSP00000406861.2, ENST00000421673.7

Conserved Domains (8) summary

PHA03255
Location:2188 → 2343

PHA03255; BDLF3; Provisional

smart00041
Location:2351 → 2434

CT; C-terminal cystine knot-like domain (CTCK)

smart00215
Location:359 → 403

VWC_out; von Willebrand factor (vWF) type C domain

smart00216
Location:386 → 549

VWD; von Willebrand factor (vWF) type D domain

pfam00094
Location:868 → 1017

VWD; von Willebrand factor type D domain

pfam01826
Location:302 → 357

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:1057 → 1127

C8; C8 domain

cl17735
Location:829 → 886

VWC; von Willebrand factor type C domain