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Aliases for MUC4 Gene

Aliases for MUC4 Gene

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

External Ids for MUC4 Gene

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 adenocarcinoma and limbal stem cell deficiency. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent, lubricant activity. An important paralog of this gene is SUSD2.

UniProtKB/Swiss-Prot 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 epithelilal cells segragates 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC4 Gene

Genomics for MUC4 Gene

Genomic Location for MUC4 Gene

Start:
195,746,765 bp from pter
End:
195,812,277 bp from pter
Size:
65,513 bases
Orientation:
Minus strand

Genomic View for MUC4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MUC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for MUC4 Gene

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
    SequenceCaution:
    • Sequence=AAA63230.1; Type=Miscellaneous discrepancy; Note=May be derived from an intron translation.; Evidence={ECO:0000305}; Sequence=CAC14139.1; Type=Frameshift; Positions=1171; Evidence={ECO:0000305}; Sequence=CAC14141.1; Type=Frameshift; Positions=1256; Evidence={ECO:0000305};

neXtProt entry for MUC4 Gene

Proteomics data for MUC4 Gene at MOPED

Post-translational modifications for MUC4 Gene

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

No data available for DME Specific Peptides for MUC4 Gene

Domains for MUC4 Gene

Gene Families for MUC4 Gene

HGNC:

Protein Domains for MUC4 Gene

UniProtKB/Swiss-Prot:

MUC4_HUMAN
Domain:
  • Contains 1 AMOP domain.:
    • Q99102
  • Contains 2 EGF-like domains.:
    • Q99102
  • Contains 1 NIDO domain.:
    • Q99102
  • Contains 1 VWFD domain.:
    • Q99102
genes like me logo Genes that share domains with MUC4: view

Function for MUC4 Gene

Molecular function for MUC4 Gene

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
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 epithelilal cells segragates 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 Ontology (GO) - Molecular Function for MUC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005176 ErbB-2 class receptor binding TAS 10024507
GO:0005515 protein binding --
GO:0030197 extracellular matrix constituent, lubricant activity NAS 10920259
genes like me logo Genes that share ontologies with MUC4: view

Phenotypes for MUC4 Gene

GenomeRNAi human phenotypes for MUC4:
genes like me logo Genes that share phenotypes with MUC4: view

miRNA for MUC4 Gene

miRTarBase miRNAs that target MUC4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for MUC4 Gene COMPARTMENTS Subcellular localization image for MUC4 gene
Compartment Confidence
extracellular 5
plasma membrane 5
golgi apparatus 4
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MUC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix NAS 10920259
GO:0005615 extracellular space IDA 16502470
GO:0005796 Golgi lumen TAS --
GO:0005887 integral component of plasma membrane TAS 10024507
GO:0016020 membrane NAS 10920259
genes like me logo Genes that share ontologies with MUC4: view

Pathways for MUC4 Gene

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

Gene Ontology (GO) - Biological Process for MUC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation --
GO:0006493 protein O-linked glycosylation TAS --
GO:0007160 cell-matrix adhesion IEA --
GO:0016266 O-glycan processing TAS --
GO:0030277 maintenance of gastrointestinal epithelium IMP 17058067
genes like me logo Genes that share ontologies with MUC4: view

Compounds for MUC4 Gene

(12) Novoseek inferred chemical compound relationships for MUC4 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 32.7 18
tyrosine 20.6 7
trastuzumab 11.6 3
progesterone 10.1 7
oligonucleotide 9.59 1
genes like me logo Genes that share compounds with MUC4: view

Transcripts for MUC4 Gene

Unigene Clusters for MUC4 Gene

Mucin 4, cell surface associated:
Representative Sequences:

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
ECgene alternative splicing isoforms for
MUC4

Expression for MUC4 Gene

mRNA expression in normal human tissues for MUC4 Gene

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

This gene is overexpressed in Colon - Transverse (18.7), Esophagus - Mucosa (6.8), Minor Salivary Gland (5.8), Prostate (5.1), and Vagina (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MUC4 Gene

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.
genes like me logo Genes that share expressions with MUC4: view

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 37
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MUC4 37
  • 49 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Muc4 16
Muc4 37
  • 30 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUC4 37
  • 28 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MUC4 37
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves MUC4 37
  • 11 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MUC4 37
  • 27 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MUC4 37
  • 22 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31004 37
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F54D1.6 37
  • 8 (a)
ManyToMany
K03H1.5 37
  • 12 (a)
ManyToMany
R09E10.5 37
  • 9 (a)
ManyToMany
Species with no ortholog for MUC4:
  • 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)

Paralogs for MUC4 Gene

Paralogs for MUC4 Gene

Pseudogenes.org Pseudogenes for MUC4 Gene

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

Variants for MUC4 Gene

Sequence variations from dbSNP and Humsavar for MUC4 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs365279 -- 195,784,903(-) TCTTC(A/C/T)TGTCA intron-variant, missense, reference
rs366624 -- 195,812,523(+) GACGC(A/G)CGGCA upstream-variant-2KB
rs366648 -- 195,812,531(+) GCAGA(C/T)CCCAG upstream-variant-2KB
rs371683 -- 195,754,897(+) tccat(A/G)tatgt intron-variant
rs372245 -- 195,762,770(-) ccggg(C/T)gcgtg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv878138 CNV Gain 21882294
dgv1549e1 CNV Complex 17122850
nsv428430 CNV Gain+Loss 18775914
nsv878146 CNV Loss 21882294
nsv822408 CNV Gain 20364138
dgv905e199 CNV Deletion 23128226
essv12347 CNV CNV 17122850
dgv1551e1 CNV Complex 17122850
dgv1552e1 CNV Complex 17122850
dgv1553e1 CNV Complex 17122850
esv22821 CNV Gain+Loss 19812545
dgv1554e1 CNV Complex 17122850
dgv5368n71 CNV Gain 21882294
esv2429380 CNV Gain 19546169
nsv469606 CNV Complex 16826518
nsv471621 CNV Gain+Loss 15918152
esv32809 CNV Gain+Loss 17666407
nsv829825 CNV Loss 17160897
dgv5369n71 CNV Loss 21882294
nsv878159 CNV Gain 21882294
dgv1555e1 CNV Complex 17122850
esv2751988 CNV Gain 17911159
nsv822410 CNV Loss 20364138
nsv878160 CNV Gain 21882294
nsv821242 CNV Duplication 20802225
nsv878161 CNV Loss 21882294
nsv237230 CNV Loss 16902084
nsv819185 CNV Gain 19587683
nsv820414 CNV Duplication 20802225
nsv508978 CNV Insertion 20534489
esv2322856 CNV Deletion 18987734
esv2726491 CNV Deletion 23290073
esv3881 CNV Deletion 18987735
esv1459873 CNV Insertion 17803354
esv2660697 CNV Deletion 23128226
esv1453227 CNV Insertion 17803354
esv1585265 CNV Insertion 17803354
esv2726492 CNV Deletion 23290073
nsv4182 CNV Insertion 18451855
esv2726493 CNV Deletion 23290073
dgv907e199 CNV Deletion 23128226
esv2673724 CNV Deletion 23128226
esv1499327 CNV Insertion 17803354
esv1446731 CNV Insertion 17803354
nsv820930 CNV Duplication 20802225
esv29878 CNV Gain+Loss 19812545
esv1428839 CNV Insertion 17803354
esv2726494 CNV Deletion 23290073
nsv10382 CNV Gain+Loss 18304495
esv2726495 CNV Deletion 23290073
esv2726497 CNV Deletion 23290073
esv2726498 CNV Deletion 23290073
esv2678798 CNV Deletion 23128226
esv2726499 CNV Deletion 23290073
esv996857 CNV Deletion 20482838
esv1551542 CNV Deletion 17803354
esv2726500 CNV Deletion 23290073
nsv821422 CNV Deletion 20802225
esv2726501 CNV Deletion 23290073
esv2726502 CNV Deletion 23290073
esv2726503 CNV Deletion 23290073
nsv820583 CNV Deletion 20802225
esv988686 CNV Gain 20482838
esv2726504 CNV Deletion 23290073
nsv515002 CNV Complex 21397061
esv1966404 CNV Deletion 18987734
esv2726505 CNV Deletion 23290073
esv2726506 CNV Deletion 23290073
esv2726508 CNV Deletion 23290073
esv2726509 CNV Deletion 23290073
esv2726510 CNV Deletion 23290073
esv2742218 CNV Deletion 23290073
esv2726511 CNV Deletion 23290073
esv989398 CNV Deletion 20482838
esv2726512 CNV Deletion 23290073
esv1010595 CNV Insertion 20482838
esv1318167 CNV Insertion 17803354
esv988433 CNV Deletion 20482838
esv2726513 CNV Deletion 23290073
dgv1556e1 CNV Complex 17122850
dgv5370n71 CNV Loss 21882294

Relevant External Links for MUC4 Gene

HapMap Linkage Disequilibrium report
MUC4
Human Gene Mutation Database (HGMD)
MUC4

Disorders for MUC4 Gene

(3) University of Copenhagen DISEASES for MUC4 Gene

(53) Novoseek inferred disease relationships for MUC4 Gene

Disease -log(P) Hits PubMed IDs
adenocarcinoma 62.4 48
pancreatic cancer 58.8 42
metaplasia 56.3 8
pancreatic tumor 53.1 15
biliary tract cancer 46 1

Relevant External Links for MUC4

Genetic Association Database (GAD)
MUC4
Human Genome Epidemiology (HuGE) Navigator
MUC4
genes like me logo Genes that share disorders with MUC4: view

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

Publications for MUC4 Gene

  1. Complete sequence of the human mucin MUC4: a putative cell membrane- associated mucin. (PMID: 10024507) Moniaux N. … Aubert J.-P. (Biochem. J. 1999) 3 4 23
  2. Human MUC4 mucin cDNA and its variants in pancreatic carcinoma. (PMID: 10920259) Choudhury A. … Batra S.K. (J. Biochem. 2000) 3 4 23
  3. Alternative splicing generates a family of putative secreted and membrane-associated MUC4 mucins. (PMID: 10880978) Moniaux N. … Aubert J.-P. (Eur. J. Biochem. 2000) 3 4 23
  4. MUC4 expression is a novel prognostic factor in patients with invasive ductal carcinoma of the pancreas. (PMID: 16049287) Saitou M. … Yonezawa S. (J. Clin. Pathol. 2005) 3 4 23
  5. MUC4 gene polymorphism and expression in women with implantation failure. (PMID: 16807280) Koscinski I. … Buisine M.P. (Hum. Reprod. 2006) 3 23 49

Products for MUC4 Gene

Sources for MUC4 Gene

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