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

    Gene ID: 4584, updated on 5-Mar-2024

    Summary

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    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

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    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_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 549, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26394 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100525101-100526058 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100526059-100527015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100531037-100531538 Neighboring gene ribosomal protein S29 pseudogene 15 Neighboring gene uncharacterized LOC105375431 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:100541229-100541778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100546705-100547685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100547686-100548665 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:100548721-100549266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100551103-100551603 Neighboring gene uncharacterized LOC124900622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18473 Neighboring gene mucin 12, cell surface associated Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100640603-100641456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100641457-100642309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100658552-100659220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26396 Neighboring gene Sharpr-MPRA regulatory region 8701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26397 Neighboring gene MUC12 antisense RNA 1 Neighboring gene mucin 17, cell surface associated Neighboring gene RN7SK pseudogene 54

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. MUC3A promotes the progression of colorectal cancer through the PI3K/Akt/mTOR pathway. Su W, et al. BMC Cancer, 2022 Jun 2. PMID 35655161, Free PMC Article
    2. MUC3A promotes non-small cell lung cancer progression via activating the NFκB pathway and attenuates radiosensitivity. Sun Y, et al. Int J Biol Sci, 2021. PMID 34326691, Free PMC Article
    3. Increased expression of MUC3A is associated with poor prognosis in localized clear-cell renal cell carcinoma. Niu T, et al. Oncotarget, 2016 Aug 2. PMID 27374181, Free PMC Article
    4. Promoter hypomethylation contributes to the expression of MUC3A in cancer cells. Kitamoto S, et al. Biochem Biophys Res Commun, 2010 Jun 25. PMID 20510874
    5. Pseudocyst of the pancreas: the role of cytology and special stains for mucin. Gonzalez Obeso E, et al. Cancer, 2009 Apr 25. PMID 19365837

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100949534..100968347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      102189627..102215508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02505.3 GenPept UniProtKB/Swiss-Prot:Q02505

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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