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FLASH GENE

Symbol

PCDHGA11

contributors: mct - updated : 11-05-2012

HGNC name	protocadherin gamma subfamily A, 11
HGNC id	8698

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q31.3      Physical location : 140.800.536 - 140.892.546
Synonym name	protocadherin, cadherin related neuronal receptor, gamma A11, in the gamma cluster
Synonym symbol(s)	PCDHVGA11, PCDH-GAMMA-A11

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, component of a cluster
text	component of PCDHG@, subfamily A
STRUCTURE	92.01 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

the first large exon corresponding to the variable region A11 of the gamma cluster encodes the N terminal extracellular transmembrane domains, the three small last exons corresponding the constant region of the gamma cluster encode the C terminal cytoplasmic domain (identical for each protein in the cluster)

MAPPING

cloned

Y

linked

Y

status

provisional

Map	cen - PCDHGA1 - PCDHGA2 - PCDHGA3 - PCDHGB1 - PCDHGA4 - PCDHGB2 - PCDHGA5 - PCDHGB3 - PCDHGA6 - PCDHGA7 - PCDHGB4 - PCDHGA8 - PCDHGB5 - PCDHGA9 - PCDHGB6 - PCDHGA10 - PCDHGB7 - PCDHGA11 - PCDHGA12 - PCDHGC3 - PCDHGC4 - PCDHGC5 - qter
Authors	Wu (01)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018914 4 - 4872 NP_061737 98.6 935 - 2001 11230163 variable region A11 and constant region of gamma cluster NM_032091 1 - 3117 NP_114480 88.6 837 - 2001 11230163 terminating downstream intron 1,putatively secreted NM_032092 4 - 4317 NP_114481 78.8 750 - 2001 11230163

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

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six extracellular cadherin repeats
	a transmembrane segment encoded by a unique exon
	a cytoplasmic tail identical for each protein in the cluster

conjugated

GlycoP

isoforms

Precursor

HOMOLOGY

interspecies

homolog to murine Pcdhga11 protocadherin gamma subfamily A,11

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 membrane protein type I, localized at the synaptic junction

basic FUNCTION

cadherin-related neuronal receptor, putatively involved specific neuronal connections

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

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

cytoplasmic domain putatively connecting to intermediate filaments

cell & other

cells expressing 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 hypermethylation in astrocytomas (WHO grades II and III), glioblastomas (WHO grade IV), and glioma cell lines

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS