MUC5B mucin 5B, oligomeric mucus/gel-forming [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUC5Bprovided by HGNC
Official Full Name: mucin 5B, oligomeric mucus/gel-formingprovided by HGNC
Primary source: HGNC:HGNC:7516
See related: Ensembl:ENSG00000117983 MIM:600770; AllianceGenome:HGNC:7516
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: MG1; MUC5; MUC9; MUC-5B
Summary: This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]
Expression: Biased expression in gall bladder (RPKM 56.3), colon (RPKM 19.6) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 49

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (1223066..1262172)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (1294310..1333348)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (1244296..1283402)

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
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?

Sialylated keratan sulfates on MUC5B are Siglec-8 ligands in the human esophagus.
Title: Sialylated keratan sulfates on MUC5B are Siglec-8 ligands in the human esophagus.
Hyposecretion of cervical MUC5B is related to preterm birth in pregnant women after cervical excisional surgery.
Title: Hyposecretion of cervical MUC5B is related to preterm birth in pregnant women after cervical excisional surgery.
Association of MUC5B promoter polymorphism with interstitial lung changes after COVID-19: A preliminary observation.
Title: Association of MUC5B promoter polymorphism with interstitial lung changes after COVID-19: A preliminary observation.
Elucidating the molecular role of MUC5B in progressive lung adenocarcinoma: Prospects for early diagnosis.
Title: Elucidating the molecular role of MUC5B in progressive lung adenocarcinoma: Prospects for early diagnosis.
The Presence of T Allele (rs35705950) of the MUC5B Gene Predicts Lower Baseline Forced Vital Capacity and Its Subsequent Decline in Patients with Hypersensitivity Pneumonitis.
Title: The Presence of T Allele (rs35705950) of the MUC5B Gene Predicts Lower Baseline Forced Vital Capacity and Its Subsequent Decline in Patients with Hypersensitivity Pneumonitis.
The association between MUC5AC and MUC5B genes expression and remodeling progression in severe neutrophilic asthma: A direct relationship.
Title: The association between MUC5AC and MUC5B genes expression and remodeling progression in severe neutrophilic asthma: A direct relationship.
MUC5B, telomere length and longitudinal quantitative interstitial lung changes: the MESA Lung Study.
Title: MUC5B, telomere length and longitudinal quantitative interstitial lung changes: the MESA Lung Study.
MUC5B rs35705950 minor allele associates with older age and better survival in idiopathic pulmonary fibrosis.
Title: MUC5B rs35705950 minor allele associates with older age and better survival in idiopathic pulmonary fibrosis.
Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?
Title: Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?
Salivary film thickness and MUC5B levels at various intra-oral surfaces.
Title: Salivary film thickness and MUC5B levels at various intra-oral surfaces.

Submit: New GeneRIF Correction See all GeneRIFs (172)

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
Interstitial lung disease 2 MedGen: C5561926 OMIM: 178500 GeneReviews: Pulmonary Fibrosis Predisposition Overview	Compare labs

EBI GWAS Catalog

Description
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mucin 5B, oligomeric mucus/gel-forming (MUC5B) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Salivary agglutinin and mucin, as well as several lower-molecular-weight proteins interact with HIV-1 to strip gp120 from the virus	PubMed

Go to the HIV-1, Human Interaction Database

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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction 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
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucin-5B

Names: cervical mucin MUC5B; high molecular weight salivary mucin MG1; mucin 5, subtype B, tracheobronchial; mucin MG1; sublingual gland mucin

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_031880.1 RefSeqGene

Range

5002..44108

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002458.3 → NP_002449.2 mucin-5B precursor

See identical proteins and their annotated locations for NP_002449.2

Status: REVIEWED

Source sequence(s)

AC061979

Consensus CDS

CCDS44515.2

UniProtKB/Swiss-Prot

O00447, O00573, O14985, O15494, O95291, O95451, Q14881, Q99552, Q9HC84, Q9UE28

UniProtKB/TrEMBL

A7Y9J9

Related

ENSP00000436812.1, ENST00000529681.5

Conserved Domains (9) summary

smart00041
Location:5660 → 5742

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

smart00214
Location:5523 → 5586

VWC; von Willebrand factor (vWF) type C domain

smart00215
Location:387 → 432

VWC_out; von Willebrand factor (vWF) type C domain

smart00216
Location:884 → 1041

VWD; von Willebrand factor (vWF) type D domain

smart00832
Location:615 → 685

C8; This domain contains 8 conserved cysteine residues

pfam01826
Location:329 → 385

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:5290 → 5351

C8; C8 domain

pfam13330
Location:1789 → 1878

Mucin2_WxxW; Mucin-2 protein WxxW repeating region

pfam17061
Location:2675 → 2860

PARM; PARM