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FLASH GENE

Symbol

HEPACAM

contributors: mct/npt - updated : 18-12-2015

HGNC name	hepatocyte cell adhesion molecule
HGNC id	26361

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MLC2B megalencephalic leukoencephalopathy with subcortical cysts 2B MLCH megalencephalic leukoencephalopathy with subcortical cysts, HEPACAM related
Location	11q24.2      Physical location : 124.789.147 - 124.806.308
Synonym name	associated with liver cancer, cancer susceptibility gene
	protein hepaCAM
Synonym symbol(s)	FLJ25530, HEPN1, GlialCAM

DNA

TYPE	functioning gene
STRUCTURE	17.16 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152722 7 - 3563 NP_689935 46 416 - 2005 15885354

EXPRESSION

Type	restricted

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 liver         Homo sapiens Nervous brain         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

extracellular domain possesses several potential N- and O-glycosylation sites (Gaudry 2008), and is necessary for its targeting to cell junctions, as well as for interactions with itself and MLC1 and CLCN2

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

HEPACAM family, immunoglobulin superfamily

CATEGORY

adhesion , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	localization of HEPACAM in lipid rafts/caveolae

basic FUNCTION	Ig-like transmembrane glycoprotein, involved in cell adhesion and growth control
	immunoglobulin-like cell adhesion molecule that promotes cell-extracellular matrix (ECM) interactions including cell adhesion and motility
	intact protein is critical for establishing a stable physical association with the actin cytoskeleton (association important for modulating HEPACAM-mediated cell adhesion and motility)
	has different functions not only related to its adhesive nature, and defects in these functions lead to neurological disease
	suppressive roles of HEPACAM in non-small cell lung cancer (NSCLC)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	MLC1 and HEPACAM form homo- and hetero-complexes

INTERACTION

DNA

RNA

small molecule

protein	interaction with CAV1 (partially localized in the lipid rafts/caveolae and interacts with CAV1 through its first immunoglobulin domain
	HEPACAM targets CLCN2 to cell junctions, increases CLCN2 mediated currents, and changes its functional properties
	role of HEPACAM in facilitating the biosynthetic maturation and cell surface expression of MLC1
	is crucial for proper localization of HEPACAM and CLCN2, and for changing CLCN2 currents
	is necessary for the correct targeting of MLC1 to the membrane at cell junctions
	HEPACAM works as an auxiliary subunit of the chloride channel CLCN2, regulating its targeting to cell-cell junctions and modifying its functional properties

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MLCH , MLC2B

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   hepatocellular carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer lung   restoring the function of HEPACAM in non-small cell lung cancer might be a promising strategy for the therapy cancer reproductive prostate may be a potential therapeutic target for prostate cancer

ANIMAL & CELL MODELS