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FLASH GENE

Symbol

PCDH19

contributors: mct/npt - updated : 19-11-2019

HGNC name	protocadherin 19
HGNC id	14270

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Cardiovascular heart       highly Nervous brain limbic system hippocampus   highly Mus musculus   brain diencephalon amygdala     Mus musculus   brain diencephalon hypothalamus     Mus musculus Reproductive female system uterus     highly Respiratory respiratory tract trachea

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal sequence,
	a transmembrane domain and a cytoplasmic region with conserved CM1 and CM2 domains
	six extracellular cadherin domains
	a cytoplasmic tail

conjugated

GlycoP

isoforms

Precursor

HOMOLOGY

interspecies

homolog to murine Pcdh19 protocadherin 19

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
	intracellular
	intracellular,nuclear envelope,int
text	integral plasma membrane, putatively localized at the synaptic junction

basic FUNCTION	cadherin-related neuronal receptor, putatively involved in the specificity of neuronal connections
	PCDH19 and CDH2 function together to regulate cell adhesion and to mediate morphogenetic movements during brain development
	has likely a role in instructing the apico-basal polarity of the progenitor cells, thus regulating the development of a properly organized human brain
	role of PCDH19 in determining cell adhesion affinities during cortical development

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,
	Ca2+

protein	adhesion by the PCDH19-CDH2 complex was unaffected by mutations that disrupt CDH2 homophilic binding but was inhibited by a mutation in PCDH19
	EOMES coordinates likely neurogenesis expansion and precise microcircuit assembly via PCDH19 in the mammalian cortex

cell & other

cell cell homophilic interaction

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EFMR

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS