MUC7 mucin 7, secreted [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUC7provided by HGNC
Official Full Name: mucin 7, secretedprovided by HGNC
Primary source: HGNC:HGNC:7518
See related: Ensembl:ENSG00000171195 MIM:158375; AllianceGenome:HGNC:7518
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: MG2
Summary: This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]
Expression: Restricted expression toward salivary gland (RPKM 5748.3) See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (70430492..70482997)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (73771521..73824025)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (71296209..71348714)

Chromosome 4 - NC_000004.12 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?

Diagnostic accuracy of MUC7 expression for bladder cancer: A systematic review and meta-analysis.
Title: Diagnostic accuracy of MUC7 expression for bladder cancer: A systematic review and meta-analysis.
MUC7 VNTR polymorphism and association with bronchial asthma in Egyptian children.
Title: MUC7 VNTR polymorphism and association with bronchial asthma in Egyptian children.
Streptococcus oralis Employs Multiple Mechanisms of Salivary Mucin Binding That Differ Between Strains.
Title: Streptococcus oralis Employs Multiple Mechanisms of Salivary Mucin Binding That Differ Between Strains.
Mucins 5b and 7 and secretory IgA in the oral acquired pellicle of children with caries and caries-free children.
Title: Mucins 5b and 7 and secretory IgA in the oral acquired pellicle of children with caries and caries-free children.
The comparative inhibitory potency of salivary mucins against human immunodeficiency virus type 1.
Title: The comparative inhibitory potency of salivary mucins against human immunodeficiency virus type 1.
These data suggest a chemokine driven alteration of MUC7 glycosylation in patients with burning mouth syndrome.
Title: Reduced sialyl-Lewis(x) on salivary MUC7 from patients with burning mouth syndrome.
reduced salivary concentration linked to dental caries
Title: MUC7 Level As A New Saliva Risk Factor For Dental Caries In Adult Patients.
The genotypic polymorphisms of IL-1beta -511 and +3954, and of MUC7 VNTR, had no direct associations with the development of BMS. However, the T allele of IL-1beta -511 may increase the risk of BMS by increasing psychological asthenia.
Title: Polymorphisms of interleukin-1β and MUC7 genes in burning mouth syndrome.
High expression of MUC7 is associated with clear-cell renal cell carcinoma.
Title: High mucin-7 expression is an independent predictor of adverse clinical outcomes in patients with clear-cell renal cell carcinoma.
A capsule-free mutant of S. pneumoniae TIGR4 binds to salivary proteins, most prominently to mucin MUC7, but that this binding was not mediated through PsrP or recognition of sialic acid.
Title: Absence of capsule reveals glycan-mediated binding and recognition of salivary mucin MUC7 by Streptococcus pneumoniae.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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

Associated conditions

Description	Tests
Inherited susceptibility to asthma MedGen: C1869116 OMIM: 600807 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

G59358 (e-PCR)
- UniSTS:136523

SHGC-14753 (e-PCR)
- UniSTS:28865

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucin-7

Names: MUC-7; apo-MG2; mucin 7, salivary; mucin MG2; salivary mucin-7

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_012348.2 RefSeqGene

Range

46707..57507

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145006.2 → NP_001138478.1 mucin-7 precursor

See identical proteins and their annotated locations for NP_001138478.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Transcript variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC106884, AC108518

Consensus CDS

CCDS3541.1

UniProtKB/Swiss-Prot

Q8TAX7, Q9UCD7, Q9UCD8

Related

ENSP00000407422.1, ENST00000413702.5

Conserved Domains (1) summary

PRK12323
Location:141 → 358

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_001145007.2 → NP_001138479.1 mucin-7 precursor

See identical proteins and their annotated locations for NP_001138479.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal non-coding exon, hence has a different 5' UTR compared to transcript variant 1. Transcript variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC108518

Consensus CDS

CCDS3541.1

UniProtKB/Swiss-Prot

Q8TAX7, Q9UCD7, Q9UCD8

Related

ENSP00000400585.1, ENST00000456088.5

Conserved Domains (1) summary

PRK12323
Location:141 → 358

PRK12323; DNA polymerase III subunits gamma and tau; Provisional
NM_152291.3 → NP_689504.2 mucin-7 precursor

See identical proteins and their annotated locations for NP_689504.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the shortest transcript and has a different 5' UTR compared to transcript variant 1. Transcript variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC108518

Consensus CDS

CCDS3541.1

UniProtKB/Swiss-Prot

Q8TAX7, Q9UCD7, Q9UCD8

Related

ENSP00000302021.5, ENST00000304887.6

Conserved Domains (1) summary

PRK12323
Location:141 → 358

PRK12323; DNA polymerase III subunits gamma and tau; Provisional