MUC3A mucin 3A, cell surface associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUC3Aprovided by HGNC
Official Full Name: mucin 3A, cell surface associatedprovided by HGNC
Primary source: HGNC:HGNC:7513
See related: Ensembl:ENSG00000169894 MIM:158371; AllianceGenome:HGNC:7513
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MUC3; MUC-3A
Summary: The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]
Annotation information: Annotation category: suggests misassembly
Expression: Biased expression in duodenum (RPKM 17.8), small intestine (RPKM 15.8) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100949534..100968347)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (102189627..102215508)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100547166..100611620)

Chromosome 7 - NC_000007.14 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?

Decoding the expression pattern of MUC3A in gastric adenocarcinoma: unveiling the key to successful immunotherapy.
Title: Decoding the expression pattern of MUC3A in gastric adenocarcinoma: unveiling the key to successful immunotherapy.
MUC3A promotes the progression of colorectal cancer through the PI3K/Akt/mTOR pathway.
Title: MUC3A promotes the progression of colorectal cancer through the PI3K/Akt/mTOR pathway.
MUC3A induces PD-L1 and reduces tyrosine kinase inhibitors effects in EGFR-mutant non-small cell lung cancer.
Title: MUC3A induces PD-L1 and reduces tyrosine kinase inhibitors effects in EGFR-mutant non-small cell lung cancer.
MUC3A promotes non-small cell lung cancer progression via activating the NFkappaB pathway and attenuates radiosensitivity.
Title: MUC3A promotes non-small cell lung cancer progression via activating the NFκB pathway and attenuates radiosensitivity.
KIAA1429 promotes the progression of lung adenocarcinoma by regulating the m6A level of MUC3A.
Title: KIAA1429 promotes the progression of lung adenocarcinoma by regulating the m6A level of MUC3A.
inspection showed that MSLN (Mesothelin), ANTXR1 (TEM8), and MUC3A are the probable targets of CAR T cell therapy in gastric adenocarcinoma.
Title: MSLN (Mesothelin), ANTXR1 (TEM8), and MUC3A are the potent antigenic targets for CAR T cell therapy of gastric adenocarcinoma.
MUC3A may have a role in poor prognosis in localized clear-cell renal cell carcinoma
Title: Increased expression of MUC3A is associated with poor prognosis in localized clear-cell renal cell carcinoma.
DNA hypomethylation in the 5'-flanking region of the MUC3A gene plays an important role in MUC3A expression in carcinomas of various organs.
Title: Promoter hypomethylation contributes to the expression of MUC3A in cancer cells.
Data show that special stains for mucin did not distinguish pseudocysts from neoplastic mucinous cysts.
Title: Pseudocyst of the pancreas: the role of cytology and special stains for mucin.
Data show that the diagnostic sensitivity for mucin was 60%, and the specificity for mucin was 100%.
Title: A technique to improve diagnostic information from fine-needle aspirations: immunohistochemistry on cytoscrape.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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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Markers

D7S3100 (e-PCR)
- UniSTS:186668

D7S3096 (e-PCR)
- UniSTS:225943

MUC3 (e-PCR)
- UniSTS:38133

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in 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-3A

Names: intestinal mucin; mucin 3, intestinal

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.

mRNA and Protein(s)

NM_005960.2 → NP_005951.1 mucin-3A precursor

Status: VALIDATED

Source sequence(s)

AB038784, AC254629, BI005786

Consensus CDS

CCDS78262.1

UniProtKB/Swiss-Prot

A6NP22, O14650, O14651, O43418, O43421, Q02505, Q02506, Q6W763, Q9H3Q7, Q9UKW9, Q9UN93, Q9UN94, Q9UN95

Related

ENSP00000368771.5, ENST00000379458.9

Conserved Domains (2) summary

cd00055
Location:2958 → 2998

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam01390
Location:3031 → 3115

SEA; SEA domain