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FLASH GENE

Symbol

PCDH9

contributors: mct - updated : 21-04-2020

HGNC name	protocadherin 9
HGNC id	8661

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	13q21.32      Physical location : 66.876.966 - 67.804.468
Synonym name	cadherin superfamily protein VR4-11

DNA

TYPE	functioning gene
STRUCTURE	927.50 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	cen - D13S300 - D13S137 - PCDH8 - D13S155 - D13S59 - PCDH9 - D13S288 - qter
Authors	Strehl (98)

RNA

TRANSCRIPTS	type	messenger

text	two or more mRNAs of different sizes expressed in a variety of tissues

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_203487 5 - 6227 NP_982354 - 1237 - 2017 28791409 NM_001318372 5 - 6101 NP_001305301 - 1195 - 2017 28791409 NM_020403 4 - 6125 NP_065136 - 1203 - 2017 28791409 NM_001318373 4 - 5999 NP_001305302 - 1161 - 2017 28791409 NM_001318374 2 - 28118 NP_001305303 - 1032 - 2017 28791409

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 Nervous brain       highly   brain forebrain cerebral lobe frontal   Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

Text	other tissues with a developmentally regulated expression pattern

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a signal peptide,six extracellular cadherin repeats and a transmembrane domain encoded by a large unique exon and a distinct cytoplasmic tail specifically interacting with tyrosine kinases

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Pcdh9 protocadherin 9

intraspecies

homolog to cadherin

Homologene

FAMILY	cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
	protocadherin subfamily

CATEGORY

adhesion , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane,junction
text	integral plasma membrane localized at the synaptic junction

basic FUNCTION	cadherin-related neuronal receptor,putatively involved in the specificity of neuronal connections
	may play specific roles in the establishment of selective synaptic connections of specific modality of cerebral cortex with other communicating brain regions such as the thalamus
	play likely roles in the wiring of neural circuit formation and maintenance through its adhesive and regulatory mechanism
	PCDH8, PCDH9, PCDH17 and PCDH20 genes are located around 13q21.1 and might be broadly involved in tumor suppression in a variety of tumors
	might be involved in formation of specific neural circuits during neural development
	PCDH9 is likely a novel risk gene for major depressive disorder (MDD)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system

text	playing a putative role in cell-cell interactions critical in the development of the central nervous system,mediating adhesion in synaptic junctions through lack-in process

PATHWAY

metabolism

signaling

signal transduction

cell-cell signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein

PCDH9 is a novel regulator of EMT by increasing the activity of GSK3B and inhibiting SNAI1

cell & other

cells expressing in the same protocadherin

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   by methylation of the PCDH9 promoter observed in 22p100 primary hepatocellular carcinoma (HCC), associated with a larger tumor size and a more pronounced intrahepatic dissemination tumoral     --low   during the development and progression of gastric cancer

Susceptibility

to major depressive disorder (MDD)

Variant & Polymorphism SNP	rs9540720 in the PCDH9 gene was genome-wide significantly associated with MDD

Candidate gene
Marker	PCDH9 could be a promising biomarker of the gastric cancer
Therapy target
	System Type Disorder Pubmed cancer digestive liver restored PCDH9 expression could inhibit cell proliferation of HCC cell lines via inducing cell cycle arrest at G0/G1 phase

ANIMAL & CELL MODELS