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

Gene ID: 4589, updated on 27-Nov-2024

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
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Genomic context

See MUC7 in Genome Data Viewer
Location:
4q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (70430492..70482997)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (73771521..73824025)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (71296209..71348714)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene submaxillary gland androgen regulated protein 3B Neighboring gene opiorphin prepropeptide Neighboring gene amelotin Neighboring gene ReSE screen-validated silencer GRCh37_chr4:71464845-71465050 Neighboring gene ameloblastin

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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

  1. NG_012348.2 RefSeqGene

    Range
    46707..57507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145006.2NP_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:141358
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  2. NM_001145007.2NP_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:141358
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  3. NM_152291.3NP_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:141358
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    70430492..70482997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415723.1XP_047271679.1  mucin-7 isoform X1

    UniProtKB/Swiss-Prot
    Q8TAX7, Q9UCD7, Q9UCD8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    73771521..73824025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350095.1XP_054206070.1  mucin-7 isoform X1

    UniProtKB/Swiss-Prot
    Q8TAX7, Q9UCD7, Q9UCD8