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Aliases for MUC3A Gene

Aliases for MUC3A Gene

  • Mucin 3A, Cell Surface Associated 2 3 5
  • MUC-3A 3 4
  • MUC3 3 4
  • Mucin 3A, Intestinal 2
  • Mucin 3, Intestinal 3
  • Intestinal Mucin-3A 4
  • Intestinal Mucin 3
  • Mucin-3A 3

External Ids for MUC3A Gene

Previous HGNC Symbols for MUC3A Gene

  • MUC3

Previous GeneCards Identifiers for MUC3A Gene

  • GC07U990056
  • GC07P100161
  • GC07P100196
  • GC07Ph99598
  • GC07Ph99599
  • GC07Ph99600
  • GC07P100385
  • GC07P100549
  • GC07P100550

Summaries for MUC3A Gene

Entrez Gene Summary for MUC3A Gene

  • 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]

GeneCards Summary for MUC3A Gene

MUC3A (Mucin 3A, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC3A include Cap Polyposis and Colorectal Cancer 1. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent, lubricant activity. An important paralog of this gene is MUC17.

UniProtKB/Swiss-Prot for MUC3A Gene

  • Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved in ligand binding and intracellular signaling.

Gene Wiki entry for MUC3A Gene

Additional gene information for MUC3A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC3A Gene

Genomics for MUC3A Gene

GeneHancer (GH) Regulatory Elements for MUC3A Gene

Promoters and enhancers for MUC3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J100948 Enhancer 0.8 Ensembl ENCODE 650.7 +0.8 761 2.2 RXRA MAX REST RAD21 SP1 IKZF1 HNF4G CTBP2 HNF4A MUC3A ACHE MOSPD3 LOC102724094 LOC105375431
GH07J100894 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 13.5 -52.7 -52710 4.6 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B ZNF143 SP3 REST ZNF592 ACHE MOSPD3 ENSG00000242798 PPP1R35 SRRT MEPCE SLC12A9 MUC3A TRIP6 ZNF3
GH07J100873 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.2 -73.8 -73811 2.9 CLOCK MLX DMAP1 YY1 E2F8 ZNF143 SP3 NFYC ZC3H11A MEF2D SRRT PIR40651 TRIM4 ZNF3 GIGYF1 PPP1R35 STAG3L5P PCOLCE PILRB ENSG00000242798
GH07J100886 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 13.2 -59.8 -59789 5.2 CLOCK DMAP1 E2F8 ZNF143 ZNF263 SP3 MEF2D GLIS1 NBN NR2C1 GC07M100887 UFSP1 TRIM4 SRRT GIGYF1 PPP1R35 ZNF3 ENSG00000242798 AP4M1 STAG3L5P
GH07J101098 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11 +152.9 152904 6.4 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 GIGYF1 SRRT STAG3L5P SERPINE1 VGF NAT16 PCOLCE ENSG00000242798 PPP1R35 MUC12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC3A on UCSC Golden Path with GeneCards custom track

Genomic Locations for MUC3A Gene

Genomic Locations for MUC3A Gene
chr7:100,949,117-100,968,347
(GRCh38/hg38)
Size:
19,231 bases
Orientation:
Plus strand
chr7:100,547,187-100,611,619
(GRCh37/hg19)
Size:
64,433 bases
Orientation:
Plus strand

Genomic View for MUC3A Gene

Genes around MUC3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC3A Gene

Proteins for MUC3A Gene

  • Protein details for MUC3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02505-MUC3A_HUMAN
    Recommended name:
    Mucin-3A
    Protein Accession:
    Q02505
    Secondary Accessions:
    • A6NP22
    • O14650
    • O14651
    • O43418
    • O43421
    • Q02506
    • Q6W763
    • Q9H3Q7
    • Q9UKW9
    • Q9UN93
    • Q9UN94
    • Q9UN95

    Protein attributes for MUC3A Gene

    Size:
    3323 amino acids
    Molecular mass:
    345127 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA63772.1; Type=Miscellaneous discrepancy; Note=This sequence is incomplete at 5 and 3 ends and extensively differs from that shown.; Evidence={ECO:0000305}; Sequence=AAA63773.1; Type=Miscellaneous discrepancy; Note=This sequence is incomplete at 5 and 3 ends and extensively differs from that shown.; Evidence={ECO:0000305}; Sequence=AAC02271.1; Type=Frameshift; Positions=1535, 1542, 1548; Evidence={ECO:0000305};

    Alternative splice isoforms for MUC3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUC3A Gene

Post-translational modifications for MUC3A Gene

Other Protein References for MUC3A Gene

No data available for DME Specific Peptides for MUC3A Gene

Domains & Families for MUC3A Gene

Gene Families for MUC3A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for MUC3A Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MUC3A: view

No data available for UniProtKB/Swiss-Prot for MUC3A Gene

Function for MUC3A Gene

Molecular function for MUC3A Gene

UniProtKB/Swiss-Prot Function:
Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved in ligand binding and intracellular signaling.

Phenotypes From GWAS Catalog for MUC3A Gene

Gene Ontology (GO) - Molecular Function for MUC3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 10405327
GO:0030197 extracellular matrix constituent, lubricant activity NAS 9334251
genes like me logo Genes that share ontologies with MUC3A: view
genes like me logo Genes that share phenotypes with MUC3A: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC3A Gene

Localization for MUC3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC3A Gene

Isoform 1: Membrane; Single-pass membrane protein.
Isoform 2: Secreted.
Isoform 3: Secreted.
Isoform 4: Secreted.
Isoform 5: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUC3A gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
nucleus 3
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MUC3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 9334251
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10405327
genes like me logo Genes that share ontologies with MUC3A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUC3A Gene

Pathways & Interactions for MUC3A Gene

genes like me logo Genes that share pathways with MUC3A: view

Interacting Proteins for MUC3A Gene

Selected Interacting proteins: Q02505-MUC3A_HUMAN for MUC3A Gene via IID

Gene Ontology (GO) - Biological Process for MUC3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with MUC3A: view

No data available for SIGNOR curated interactions for MUC3A Gene

Drugs & Compounds for MUC3A Gene

(7) Drugs for MUC3A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for MUC3A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MUC3A: view

Transcripts for MUC3A Gene

mRNA/cDNA for MUC3A Gene

(6) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MUC3A Gene

Mucin 3A, cell surface associated:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUC3A Gene

No ASD Table

Relevant External Links for MUC3A Gene

GeneLoc Exon Structure for
MUC3A
ECgene alternative splicing isoforms for
MUC3A

Expression for MUC3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUC3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC3A Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x19.5), Colon - Transverse (x9.9), Liver (x8.1), and Prostate (x5.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUC3A Gene



NURSA nuclear receptor signaling pathways regulating expression of MUC3A Gene:

MUC3A

SOURCE GeneReport for Unigene cluster for MUC3A Gene:

Hs.744422

mRNA Expression by UniProt/SwissProt for MUC3A Gene:

Q02505-MUC3A_HUMAN
Tissue specificity: Broad specificity; small intestine, colon, colonic tumors, heart, liver, thymus, prostate, pancreas and gall bladder.

Evidence on tissue expression from TISSUES for MUC3A Gene

  • Intestine(4.6)
genes like me logo Genes that share expression patterns with MUC3A: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC3A Gene

Orthologs for MUC3A Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUC3A 34 33
  • 97.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia A630081J09Rik 34 33
  • 75.2 (n)
OneToOne
Muc3a 16
cow
(Bos Taurus)
Mammalia MUC3A 34
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUC3A 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUC3A 34
  • 20 (a)
OneToOne
Species where no ortholog for MUC3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MUC3A Gene

ENSEMBL:
Gene Tree for MUC3A (if available)
TreeFam:
Gene Tree for MUC3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUC3A: view image

Paralogs for MUC3A Gene

Paralogs for MUC3A Gene

(3) SIMAP similar genes for MUC3A Gene using alignment to 9 proteins:

  • MUC3A_HUMAN
  • A6NP22_HUMAN
  • H0Y6M1_HUMAN
  • I0EZ65_HUMAN
  • I0EZ66_HUMAN
  • I0EZ67_HUMAN
  • I0EZ73_HUMAN
  • J3QST7_HUMAN
  • Q9H3Q6_HUMAN
genes like me logo Genes that share paralogs with MUC3A: view

Variants for MUC3A Gene

Sequence variations from dbSNP and Humsavar for MUC3A Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000036022 -- 100,956,196(+) A/G coding_sequence_variant, missense_variant
rs1000057068 -- 100,949,598(+) T/C 5_prime_UTR_variant
rs1000407277 -- 100,956,000(+) C/T coding_sequence_variant, synonymous_variant
rs1001138345 -- 100,966,250(+) G/T intron_variant
rs1001161346 -- 100,961,506(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MUC3A Gene

Variant ID Type Subtype PubMed ID
dgv3626n106 CNV duplication 24896259
dgv3627n106 CNV deletion 24896259
esv1312787 CNV insertion 17803354
esv2535777 CNV insertion 19546169
esv2734888 CNV deletion 23290073
esv2734897 CNV deletion 23290073
esv2759547 CNV gain+loss 17122850
esv2865902 CNV insertion 24192839
esv3409852 CNV insertion 20981092
esv6119 CNV loss 19470904
nsv1076627 CNV duplication 25765185
nsv1114991 CNV deletion 24896259
nsv1137275 CNV deletion 24896259
nsv1140826 CNV deletion 24896259
nsv1140827 CNV deletion 24896259
nsv1151058 CNV duplication 26484159
nsv428181 CNV gain+loss 18775914
nsv511361 CNV loss 21212237
nsv819208 CNV loss 19587683
nsv831074 CNV loss 17160897

Variation tolerance for MUC3A Gene

Gene Damage Index Score: 13.88; 95.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUC3A Gene

Human Gene Mutation Database (HGMD)
MUC3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC3A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC3A Gene

Disorders for MUC3A Gene

MalaCards: The human disease database

(6) MalaCards diseases for MUC3A Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cap polyposis
  • cap inflammatory polyposis
colorectal cancer 1
  • colorectal cancer, susceptibility to, 1
clear cell renal cell carcinoma
  • clear cell carcinoma of kidney
cystic fibrosis
  • cf
inflammatory bowel disease
  • inflammatory bowel diseases
- elite association - COSMIC cancer census association via MalaCards
Search MUC3A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MUC3A

genes like me logo Genes that share disorders with MUC3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC3A Gene

Publications for MUC3A Gene

  1. The MUC3 gene encodes a transmembrane mucin and is alternatively spliced. (PMID: 10405327) Williams SJ … McGuckin MA (Biochemical and biophysical research communications 1999) 3 4 22 58
  2. MUC3 human intestinal mucin. Analysis of gene structure, the carboxyl terminus, and a novel upstream repetitive region. (PMID: 9334251) Gum JR … Kim YS (The Journal of biological chemistry 1997) 3 4 22 58
  3. Molecular cloning of cDNAs derived from a novel human intestinal mucin gene. (PMID: 2393399) Gum JR … Kim YS (Biochemical and biophysical research communications 1990) 2 3 4 58
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58
  5. Initiation of transcription of the MUC3A human intestinal mucin from a TATA-less promoter and comparison with the MUC3B amino terminus. (PMID: 12958310) Gum JR … Kim YS (The Journal of biological chemistry 2003) 3 4 58

Products for MUC3A Gene

Sources for MUC3A Gene

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