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FLASH GENE

Symbol

MUC2

contributors: mct/npt - updated : 11-06-2008

HGNC name	mucin 2, oligomeric mucus/gel-forming
HGNC id	7512

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	anonymous DNA segment
SPECIAL FEATURE	component of a cluster, opposite orientation
text	clustered to chromosome 11p15.5 with three other secreted gel-forming mucins, MUC6, MUC5B, and MUC5AC
STRUCTURE	29.00 kb     49 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	cytosine-phosphate-guanine/HTF
	Binding site
text structure	binding sites for sp-family transcription factor

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	see INS , MUC6

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed MUC2 49 splicing 15728 540 5179 - Ahn, Semino-Mora (2008) MUC2-2 - splicing 326 - 109 - Sternberg MUC2-1 - splicing 1442 - 147 - Sternberg lacking the MUC2 TR2 repeat

EXPRESSION

Type	restricted

constitutive of

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   stomach         respiratory lung bronchi       Respiratory respiratory tract trachea       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining uroepithelium

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	expressed during embryonic development of the intestine, in a specific spatio-temporal pattern of expression

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an extended array of tandem repeats flanked by cysteine-rich subdomains
	cystine Knot domain (at C terminus)
	two VWF type D domain

conjugated

GlycoP

mono polymer

polymer

HOMOLOGY

interspecies

homolog to murine Muc2

Homologene

FAMILY

CATEGORY

secretory

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	involved in epithelial cell differentiation
	coating the epithelia of the intestines, airways and other mucus membrane containing organs, against particles and infections agents
	contribute in mucus formation by forming a tridimensional network via oligomerization domains to protect underlying epithelia against diverse injuries

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	glycoprotein constituent of membrane
	main protein component of intestinal mucus

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other	regulated by FOXA1, FOXA2
	regulated by histone H3 modification and DNA methylation in pancreatic cancer

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in epithelial ovarian cancer and in bladder cancer tumoral     --other   aberrant MUC2 expression in intestinal cancers and other intestinal disorders tumoral     --other   expression pattern of secreted mucins including MUC2 and MUC6 is altered apparently in gastric carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS