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FLASH GENE

Symbol

CDH7

contributors: - updated : 31-03-2007

HGNC name	cadherin 7, type 2
HGNC id	1766

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHARGE CHARGE syndrome DUP8Q12 chromosome 8q12 duplication, including CHD7
Location	18q22.1      Physical location : 63.417.487 - 63.548.174
Genatlas name	BH-cadherin chicken cadherin 7-like
Synonym symbol(s)	CDH7L1, CADH-7

DNA

TYPE	functioning gene
STRUCTURE	130.00 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D18S1148 - CDH20 - D18S60 - PDB2 - D18S42 - D18S68 - D18S483 - CDH7 ,CDH19 - D18S828 - qter
Authors	Kremmidiotis (98),Kools (00)

RNA

TRANSCRIPTS	type	messenger

text	with two alternatively spliced isoforms

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant b - splicing 2828 - 785 - Moore exon 1b variant a - splicing 2728 - 785 - Moore exon 1a

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 Cardiovascular heart         Nervous brain         Reproductive male system testis         male system prostate

cell lineage
cell lines	the minor expressed in several cancer lines
fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal hydrophobic domain
	five extracellular cadherin repeats with four cysteines in the most proximal (MPED)
	a transmembrane segment
	a highly conserved cytoplasmic tail required for interactions

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION

plasma membrane,junction,tight

basic FUNCTION	transmembrane glycoprotein component of adherens junction, putatively involved in synaptic adhesion
	cell-cell or cell-extra-cellular matrix interactions
	involved in axon outgrowth and guidance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	hemophilic,calcium dependent interactions
	interacting by its C terminus with the cytoskeleton via beta-catenin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DUP8Q12 , CHARGE

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in colorectal cancer with favourable prognostic factor for disease-free survival

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS