The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycop... See more...

Aliases for MUC4 Gene

Aliases for MUC4 Gene

  • Mucin 4, Cell Surface Associated 2 3 5
  • Pancreatic Adenocarcinoma Mucin 3 4
  • Ascites Sialoglycoprotein 3 4
  • Mucin 4, Tracheobronchial 2 3
  • Tracheobronchial Mucin 3 4
  • Testis Mucin 3 4
  • Mucin-4 3 4
  • MUC-4 3 4
  • ASGP 3 4
  • HSA276359 3

External Ids for MUC4 Gene

Previous GeneCards Identifiers for MUC4 Gene

  • GC03P191251
  • GC03P195544
  • GC03M196882
  • GC03M196801
  • GC03M196963
  • GC03M195473
  • GC03M192745

Summaries for MUC4 Gene

Entrez Gene Summary for MUC4 Gene

  • The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

GeneCards Summary for MUC4 Gene

MUC4 (Mucin 4, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC4 include Filamentary Keratitis and Biliary Tract Cancer. Among its related pathways are Metabolism of proteins and CLEC7A (Dectin-1) signaling. Gene Ontology (GO) annotations related to this gene include ErbB-2 class receptor binding and extracellular matrix constituent, lubricant activity. An important paralog of this gene is SUSD2.

UniProtKB/Swiss-Prot Summary for MUC4 Gene

  • May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and in its ability to act as an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site-specific phosphorylation of the ERBB2 'Tyr-1248'. In polarized epithelial cells segregates ERBB2 and other ERBB receptors and prevents ERBB2 from acting as a coreceptor. The interaction with ERBB2 leads to enhanced expression of CDKN1B. The formation of a MUC4-ERBB2-ERBB3-NRG1 complex leads to down-regulation of CDKN1B, resulting in repression of apoptosis and stimulation of proliferation.

Gene Wiki entry for MUC4 Gene

Additional gene information for MUC4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MUC4 Gene

Genomics for MUC4 Gene

GeneHancer (GH) Regulatory Elements for MUC4 Gene

Promoters and enhancers for MUC4 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
GH03J195808 Promoter/Enhancer 1 Ensembl dbSUPER 500.7 +0.8 772 0.4 ZNF623 ZBTB11 ZNF426 ZFP64 ZNF34 ZBTB33 ZNF781 ZFP69B ZNF518A ZNF555 MUC4 lnc-TNK2-8 ENSG00000271662 MUC20P1 SDHAP2 SDHAP1 RNF168 lnc-TNK2-9
GH03J195811 Promoter/Enhancer 0.9 EPDnew dbSUPER 500.7 +0.0 24 0.1 CTBP1 EZH2 KLF13 SKIL FOXK2 PRDM10 JUND ZEB2 SP1 KLF1 MUC4 lnc-TNK2-8 lnc-TNK2-9
GH03J195914 Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 35.7 -103.0 -102975 1.7 ZNF217 CTCF MYC USF1 FOS ZFX ZIC2 CLOCK TARDBP REST lnc-TNK2-3 MUC4 ENSG00000271662 MUC20-OT1 RF00017-4220 lnc-TNK2-4 ENSG00000260261
GH03J196077 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17.5 -268.7 -268728 5.4 EP300 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC USF1 POLR2G TFRC SDHAP1 MUC20-OT1 SDHAP2 WDR53 UBXN7-AS1 RNF168 MUC4 UBXN7 TM4SF19-AS1
GH03J196107 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.7 -298.1 -298102 7.7 ZNF217 CTCF NRF1 USF1 PHB2 TEAD4 ZIC2 CLOCK ZBTB11 AFF1 MUC4 PIGX ENSG00000231443 TFRC RNU7-18P ENSG00000271662 ENSG00000260261 MUC20-OT1 ENSG00000231464 MUC20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUC4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUC4

Top Transcription factor binding sites by QIAGEN in the MUC4 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA

Genomic Locations for MUC4 Gene

Genomic Locations for MUC4 Gene
chr3:195,746,765-195,811,973
(GRCh38/hg38)
Size:
65,209 bases
Orientation:
Minus strand
chr3:195,473,636-195,539,148
(GRCh37/hg19)
Size:
65,513 bases
Orientation:
Minus strand

Genomic View for MUC4 Gene

Genes around MUC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for MUC4 Gene

  • Protein details for MUC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99102-MUC4_HUMAN
    Recommended name:
    Mucin-4
    Protein Accession:
    Q99102
    Secondary Accessions:
    • O95938
    • Q9GZM2
    • Q9GZV6
    • Q9H481
    • Q9H482
    • Q9H483
    • Q9H484
    • Q9H485
    • Q9H486
    • Q9H487
    • Q9H4D6
    • Q9H4D8
    • Q9NPJ0
    • Q9NY09
    • Q9NY75
    • Q9NY76
    • Q9NY77
    • Q9NY78
    • Q9NY79
    • Q9NY80
    • Q9NY81

    Protein attributes for MUC4 Gene

    Size:
    2169 amino acids
    Molecular mass:
    231518 Da
    Quaternary structure:
    • A heterodimeric complex, composed of a mucin-4 alpha chain and a cysteine-rich transmembrane mucin-4 beta chain. Mucin-4 beta chain interacts with ERBB2 via the EGF-like domain 1. In nonpolarized cells, associates with ERBB2 and ERBB3 (By similarity).
    Miscellaneous:
    • Expression is a very useful predictor of poor prognosis in patients with invasive ductal carcinoma and intrahepatic cholangiocarcinoma, mass forming type (IDC,ICC-MF). Patients with IDC or ICC-MF who have high MUC4 expression had a worse survival rate than those with low MUC4 expression.
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 7]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 8]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 9]: Dubious isoform produced through aberrant splice sites.
    • [Isoform 11]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 12]: May be preferentially expressed in tumor tissues.
    • [Isoform 13]: May be preferentially expressed in tumor tissues.
    • [Isoform 15]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 16]: Dubious isoform produced through aberrant splice sites.
    • [Isoform 17]: Dubious isoform produced through aberrant splice sites.
    SequenceCaution:
    • Sequence=AAA63230.1; Type=Miscellaneous discrepancy; Note=May be derived from an intron translation.; Evidence={ECO:0000305}; Sequence=CAC14139.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAC14141.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for MUC4 Gene

Post-translational modifications for MUC4 Gene

  • Proteolytically cleaved into 2 chains, mucin-4 alpha chain and mucin-4 beta chain.
  • mucrnin-4 alpha chain is highly O-glycosylated.
  • mucin-4 beta chain is predominantly N-glycosylated.
  • Glycosylation at Thr161, Asn235, Asn260, Asn1472, Ser453, Thr454, Thr458, Ser461, Thr466, Thr467, Asn1525, Asn1544, Asn1553, Asn1588, Asn1609, Asn1632, Asn1659, Asn622, Asn1685, Asn1703, Asn1739, Asn1754, Asn1802, Asn1809, Asn1857, Asn1876, Asn1942, Asn1949, and Asn2049
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MUC4_HUMAN (374)

No data available for DME Specific Peptides for MUC4 Gene

Domains & Families for MUC4 Gene

Gene Families for MUC4 Gene

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

Protein Domains for MUC4 Gene

Suggested Antigen Peptide Sequences for MUC4 Gene

GenScript: Design optimal peptide antigens:
  • Tracheobronchial mucin (MUC4_HUMAN)
  • Mucin 4 (O75456_HUMAN)
  • Mucin (O76037_HUMAN)
  • Mucin 4 (Q9UK75_HUMAN)
  • Mucin 4 (Q9UP82_HUMAN)
genes like me logo Genes that share domains with MUC4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MUC4 Gene

Function for MUC4 Gene

Molecular function for MUC4 Gene

UniProtKB/Swiss-Prot Function:
May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and in its ability to act as an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site-specific phosphorylation of the ERBB2 'Tyr-1248'. In polarized epithelial cells segregates ERBB2 and other ERBB receptors and prevents ERBB2 from acting as a coreceptor. The interaction with ERBB2 leads to enhanced expression of CDKN1B. The formation of a MUC4-ERBB2-ERBB3-NRG1 complex leads to down-regulation of CDKN1B, resulting in repression of apoptosis and stimulation of proliferation.
GENATLAS Biochemistry:
mucin 4,homolog of rat sialomucin,tracheobronchial,involved in intestinal epithelial cell differentiation,expressed in ovarian epithelial cancer,decreasing with increased cancer stage,ligand for Erb2 in cell signaling

Phenotypes From GWAS Catalog for MUC4 Gene

Gene Ontology (GO) - Molecular Function for MUC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005176 ErbB-2 class receptor binding IEA --
GO:0030197 extracellular matrix constituent, lubricant activity NAS,IEA 10920259
genes like me logo Genes that share ontologies with MUC4: view
genes like me logo Genes that share phenotypes with MUC4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MUC4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC4 Gene

Localization for MUC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC4 Gene

Membrane; Single-pass membrane protein. Secreted. Note=Isoforms lacking the Cys-rich region, EGF-like domains and transmembrane region are secreted. Secretion occurs by splicing or proteolytic processing.
[Mucin-4 beta chain]: Cell membrane; Single-pass membrane protein.
[Mucin-4 alpha chain]: Secreted.
[Isoform 3]: Cell membrane; Single-pass membrane protein.
[Isoform 11]: Secreted.
[Isoform 15]: Secreted.
[Isoform 17]: Cell membrane; Single-pass membrane protein.

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 MUC4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 4
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for MUC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,HDA 16502470
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10024507
genes like me logo Genes that share ontologies with MUC4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUC4 Gene

Pathways & Interactions for MUC4 Gene

genes like me logo Genes that share pathways with MUC4: view

SIGNOR curated interactions for MUC4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MUC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion IEA --
GO:0010469 regulation of signaling receptor activity IEA --
GO:0010669 epithelial structure maintenance IEA --
genes like me logo Genes that share ontologies with MUC4: view

Drugs & Compounds for MUC4 Gene

(7) Drugs for MUC4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MUC4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MUC4: view

Transcripts for MUC4 Gene

mRNA/cDNA for MUC4 Gene

6 REFSEQ mRNAs :
37 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUC4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - -
SP9: - - - - - - - -
SP10:
SP11:
SP12:
SP13:

ExUns: 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9: - - -
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for MUC4 Gene

GeneLoc Exon Structure for
MUC4

Expression for MUC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MUC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUC4 Gene

This gene is overexpressed in Colon - Transverse (x18.7), Esophagus - Mucosa (x6.8), Minor Salivary Gland (x5.8), Prostate (x5.1), and Vagina (x4.6).

Protein differential expression in normal tissues from HIPED for MUC4 Gene

This gene is overexpressed in Nasal epithelium (23.6), Milk (22.2), and Cervix (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MUC4 Gene



Protein tissue co-expression partners for MUC4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUC4

SOURCE GeneReport for Unigene cluster for MUC4 Gene:

Hs.369646

mRNA Expression by UniProt/SwissProt for MUC4 Gene:

Q99102-MUC4_HUMAN
Tissue specificity: Expressed in the thymus, thyroid, lung, trachea, esophagus, stomach, small intestine, colon, testis, prostate, ovary, uterus, placenta, and mammary and salivary glands. Expressed in carcinomas arising from some of these epithelia, such as lung cancers, squamous cell carcinomas of the upper aerodigestive tract, mammary carcinomas, biliary tract, colon, and cervix cancers. Minimally or not expressed in the normal pancreas or chronic pancreatitis, but is highly expressed in pancreatic tumors and pancreatic tumor cell lines.

Evidence on tissue expression from TISSUES for MUC4 Gene

  • Intestine(4.8)
  • Lung(4.6)
  • Stomach(3)
  • Pancreas(2.1)
  • Nervous system(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with MUC4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MUC4 Gene

Orthologs for MUC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MUC4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MUC4 31
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUC4 31
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUC4 31
  • 48 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Muc4 31
  • 30 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUC4 31
  • 28 (a)
OneToOne
chicken
(Gallus gallus)
Aves MUC4 31
  • 11 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUC4 31
  • 27 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MUC4 31
  • 22 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31004 31
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K03H1.5 31
  • 12 (a)
ManyToMany
R09E10.5 31
  • 9 (a)
ManyToMany
F54D1.6 31
  • 8 (a)
ManyToMany
Species where no ortholog for MUC4 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)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • 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)

Evolution for MUC4 Gene

ENSEMBL:
Gene Tree for MUC4 (if available)
TreeFam:
Gene Tree for MUC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUC4: view image

Paralogs for MUC4 Gene

Paralogs for MUC4 Gene

(1) SIMAP similar genes for MUC4 Gene using alignment to 17 proteins:

  • MUC4_HUMAN
  • E7ENC5_HUMAN
  • E7EQG8_HUMAN
  • E7EQT2_HUMAN
  • E7ERK0_HUMAN
  • E7ETT5_HUMAN
  • E7EUL9_HUMAN
  • E7EW47_HUMAN
  • E7EWN1_HUMAN
  • E9PDY6_HUMAN
  • H0Y2Y1_HUMAN
  • H7BXN7_HUMAN
  • H7BZI3_HUMAN
  • O75456_HUMAN
  • O76037_HUMAN
  • Q9UK75_HUMAN
  • Q9UP82_HUMAN
genes like me logo Genes that share paralogs with MUC4: view

Variants for MUC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUC4 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708776 Benign: not provided 195,750,916(-) C/T MISSENSE_VARIANT
755266 Likely Benign: not provided 195,761,590(-) G/A INTRON_VARIANT
760451 Likely Benign: not provided 195,764,168(-) C/T INTRON_VARIANT
780435 Benign: not provided 195,750,908(-) G/A SYNONYMOUS_VARIANT
rs199497031 Benign: not specified 195,783,070(-) A/C MISSENSE_VARIANT,NO_SEQUENCE_ALTERATION,GENIC_UPSTREAM_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for MUC4 Gene

Structural Variations from Database of Genomic Variants (DGV) for MUC4 Gene

Variant ID Type Subtype PubMed ID
dgv2683n106 OTHER inversion 24896259
dgv2686n106 CNV deletion 24896259
dgv2885e59 CNV duplication 20981092
dgv2886e59 CNV duplication 20981092
dgv2887e59 CNV duplication 20981092
dgv2888e59 CNV duplication 20981092
dgv5014n100 CNV gain 25217958
dgv5015n100 CNV loss 25217958
dgv5019n100 CNV gain+loss 25217958
dgv5021n100 CNV gain+loss 25217958
dgv5022n100 CNV gain 25217958
dgv5023n100 CNV loss 25217958
dgv5027n100 CNV loss 25217958
dgv5028n100 CNV gain+loss 25217958
dgv5029n100 CNV gain 25217958
dgv5032n100 CNV gain 25217958
dgv5033n100 CNV loss 25217958
dgv5034n100 CNV gain 25217958
dgv905e199 CNV deletion 23128226
dgv907e199 CNV deletion 23128226
esv1010595 CNV insertion 20482838
esv1318167 CNV insertion 17803354
esv1428839 CNV insertion 17803354
esv1446731 CNV insertion 17803354
esv1453227 CNV insertion 17803354
esv1459873 CNV insertion 17803354
esv1499327 CNV insertion 17803354
esv1551542 CNV deletion 17803354
esv1585265 CNV insertion 17803354
esv1966404 CNV deletion 18987734
esv22821 CNV gain+loss 19812545
esv2322856 CNV deletion 18987734
esv2429380 CNV gain 19546169
esv2660697 CNV deletion 23128226
esv2673724 CNV deletion 23128226
esv2678798 CNV deletion 23128226
esv2726491 CNV deletion 23290073
esv2726492 CNV deletion 23290073
esv2726493 CNV deletion 23290073
esv2726494 CNV deletion 23290073
esv2726495 CNV deletion 23290073
esv2726497 CNV deletion 23290073
esv2726498 CNV deletion 23290073
esv2726499 CNV deletion 23290073
esv2726500 CNV deletion 23290073
esv2726501 CNV deletion 23290073
esv2726502 CNV deletion 23290073
esv2726503 CNV deletion 23290073
esv2726504 CNV deletion 23290073
esv2726505 CNV deletion 23290073
esv2726506 CNV deletion 23290073
esv2726508 CNV deletion 23290073
esv2726509 CNV deletion 23290073
esv2726510 CNV deletion 23290073
esv2726511 CNV deletion 23290073
esv2726512 CNV deletion 23290073
esv2726513 CNV deletion 23290073
esv2742218 CNV deletion 23290073
esv2751988 CNV gain 17911159
esv2759213 CNV gain+loss 17122850
esv2760775 CNV gain+loss 21179565
esv2763776 CNV gain+loss 21179565
esv29878 CNV gain+loss 19812545
esv32809 CNV gain+loss 17666407
esv3336793 CNV duplication 20981092
esv3378792 CNV duplication 20981092
esv3384520 CNV duplication 20981092
esv3420725 CNV duplication 20981092
esv3428535 CNV duplication 20981092
esv3563161 CNV deletion 23714750
esv3563163 CNV deletion 23714750
esv3569213 CNV loss 25503493
esv3599250 CNV loss 21293372
esv3881 CNV loss 18987735
esv3893850 CNV gain 25118596
esv988433 CNV deletion 20482838
esv988686 CNV gain 20482838
esv989398 CNV deletion 20482838
esv996857 CNV deletion 20482838
nsv1001387 CNV gain 25217958
nsv1005193 CNV loss 25217958
nsv1006165 CNV gain 25217958
nsv1006229 CNV gain 25217958
nsv1007562 CNV gain 25217958
nsv1009523 CNV gain 25217958
nsv10382 CNV gain+loss 18304495
nsv1068315 OTHER inversion 25765185
nsv1078527 CNV duplication 25765185
nsv1078528 CNV duplication 25765185
nsv1116019 CNV insertion 24896259
nsv1117950 CNV deletion 24896259
nsv1117951 CNV deletion 24896259
nsv1117953 CNV deletion 24896259
nsv1121618 CNV deletion 24896259
nsv1121619 CNV deletion 24896259
nsv1122467 CNV deletion 24896259
nsv1125791 CNV tandem duplication 24896259
nsv1130805 CNV deletion 24896259
nsv1130807 CNV deletion 24896259
nsv1131753 CNV deletion 24896259
nsv1139806 CNV duplication 24896259
nsv1141448 CNV duplication 24896259
nsv1144561 CNV deletion 24896259
nsv1151617 CNV deletion 26484159
nsv1151958 CNV insertion 26484159
nsv1153989 CNV duplication 26484159
nsv237230 CNV deletion 16902084
nsv4182 CNV insertion 18451855
nsv428430 CNV gain+loss 18775914
nsv469606 CNV gain+loss 16826518
nsv471621 CNV gain+loss 15918152
nsv508978 CNV insertion 20534489
nsv515002 CNV gain 21397061
nsv593022 CNV gain 21841781
nsv593054 CNV loss 21841781
nsv593055 CNV loss 21841781
nsv819185 CNV gain 19587683
nsv820414 CNV duplication 20802225
nsv820583 CNV deletion 20802225
nsv820930 CNV duplication 20802225
nsv821242 CNV duplication 20802225
nsv821422 CNV deletion 20802225
nsv822408 CNV gain 20364138
nsv822410 CNV loss 20364138
nsv829825 CNV loss 17160897
nsv950303 CNV duplication 24416366
nsv950304 CNV deletion 24416366
nsv950305 CNV deletion 24416366
nsv956252 CNV deletion 24416366
nsv956295 CNV deletion 24416366

Variation tolerance for MUC4 Gene

Gene Damage Index Score: 26.01; 99.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUC4 Gene

Human Gene Mutation Database (HGMD)
MUC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MUC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC4 Gene

Disorders for MUC4 Gene

MalaCards: The human disease database

(36) MalaCards diseases for MUC4 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MUC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MUC4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MUC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC4 Gene

Publications for MUC4 Gene

  1. MUC4 gene polymorphism and expression in women with implantation failure. (PMID: 16807280) Koscinski I … Buisine MP (Human reproduction (Oxford, England) 2006) 3 23 41 54
  2. MUC4 expression and its relation to ErbB2 expression, apoptosis, proliferation, differentiation, and tumor stage in non-small cell lung cancer (NSCLC). (PMID: 16814944) Karg A … Uçvet A (Pathology, research and practice 2006) 3 4 23 54
  3. MUC4 expression and localization in gastrointestinal tract and skin of human embryos. (PMID: 16914178) Zhang J … Carraway KL (Tissue & cell 2006) 3 4 23 54
  4. MUC4 expression is a novel prognostic factor in patients with invasive ductal carcinoma of the pancreas. (PMID: 16049287) Saitou M … Yonezawa S (Journal of clinical pathology 2005) 3 4 23 54
  5. Human MUC4 mucin cDNA and its variants in pancreatic carcinoma. (PMID: 10920259) Choudhury A … Batra SK (Journal of biochemistry 2000) 3 4 23 54

Products for MUC4 Gene

Sources for MUC4 Gene