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FLASH GENE

Symbol

MUC4

contributors: np/mct - updated : 11-03-2011

HGNC name	mucin 4, cell surface associated
HGNC id	7514

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	65.51 kb     25 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	repetitive sequence   other
text structure	VNTR

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	five secreted and two membrane associated alternative use of cassette exons, exon skipping or use of cryptic splice donor/acceptor sites

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018406 25 - 17123 NP_060876 - 5412 - 1995 8654841 also called variant 1/isoform a or sv0 NM_004532 24 - 4415 NP_004523 4.51 1176 - 1995 8654841 also called variant 4/isoform d or MUC4/Y NM_138297 23 - 4262 NP_612154 - 1125 - 1995 8654841 also called variant 5/isoform e or MUC4/X

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly   mouth       highly   pharynx       highly   stomach       highly Respiratory respiratory tract trachea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium

cells

System Cell Pubmed Species Stage Rna symbol Digestive goblet Respiratory goblet cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	variable tandem repeat (48bp) domain
	one cysteine residue (VNTR) in the N terminal region,giving after cleavage the two subunits MUC4A, MUC4B, MUC4- beta possessing two EGF-like domains
	a transmembrane sequence (1TM)
	a potential phosphorylation site

conjugated

GlycoP

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to rattus sialomucin

Homologene

FAMILY

CATEGORY

secretory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	involved in intestinal epithelial cell differentiation
	implicated in the integrity of the renewal of the epithelium
	potentiates neuregulin signaling by increasing the cell-surface populations of ERBB2 and ERBB3
	function as a modulator of cell signaling and provide mechanistic evidence for its role in pancreatic cancer progression
	plays a role in ovarian cancer cell motility, in part, by altering actin arrangement and potentiating ERRB2 downstream signalling in these cells (
	can act as a ligand/modulator for ERBB2, affecting its localization in polarized epithelial cells and its phosphorylation
	heterodimeric membrane mucin implicated in epithelial differentiation and tumor progression
	undergoes proteosomal degradation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ligand for Erb2 in cell signaling
	target gene of ETV4 in pancreatic cancer cells (a transactivator of the MUC4 promoter through the -216 and -2368 ETV4 binding sites of the MUC4 promoter)

cell & other

REGULATION

Other

regulated by TGFbeta, which represses the precursor cleavage

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in pancreatic carcinoma tumoral     --low   in ovarian epithelial cancer with increased cancer stage tumoral     --other   aberrantly expressed in 75p100 of pancreatic ductal adenocarcinomas tumoral     --over   in ovarian tumors and has a role in the invasiveness of OC cells tumoral     --over   in squamous cervical dysplasia and carcinomas

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	useful biological marker for the diagnosis of ductal adenocarcinomas
	lineage marker in benign cervical tissue
Therapy target
	System Type Disorder Pubmed cancer digestive oesophagus MUC1 and MUC4 may be attractive targets for the selection of treatment methods in oral squamous cell carcinoma (OSCC)

ANIMAL & CELL MODELS