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FLASH GENE

Symbol

CACNA2D4

contributors: mct - updated : 02-05-2013

HGNC name	calcium channel, voltage-dependent, alpha 2/delta subunit 4
HGNC id	20202

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RCD4 retinal cone dystrophy 4
Location	12p13.33      Physical location : 1.901.123 - 2.027.870
Genatlas name	candidate gene for retinal disease 6
Synonym name	voltage-gated calcium channel alpha(2)delta-4 subunit
Synonym symbol(s)	CGRD6

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	co-localized with CACNA1C gene
STRUCTURE	126.75 kb     41 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	four alternatively spliced transcripts with 2 different N-termini and 2 different C-termini

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed CACNA2D4 I2 - - 5272 - 911 - Qin NM_172364 41 - 5343 NP_758952 - 1137 - Qin CACNA2D4 I3 - - 5298 - 1122 - Qin

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 Endocrine adrenal gland         Lymphoid/Immune spleen       highly nervous brain diencephalon       Visual eye retina fovea   highly   eye retina macula   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	von Willebrand factor (vWF)type A domain
	a Cache domain

mono polymer

heteromer , dimer

isoforms

Precursor

alpha-2 and delta subunits are proteolytically processed from a precursor form

HOMOLOGY

interspecies

homolog to murine T30256

intraspecies	homolog to CACNA1D1
	homolog to CACNA1D2
	homolog to CACNA1D3

Homologene

FAMILY

CATEGORY

unknown/unspecified , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	integral membrane protein

basic FUNCTION	regulatory subunit that alters the properties of CACNA1A
	calcium channel protein wich plays an important role in excitation-contraction coupling
	increasde the Ca2+ influx

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	the l-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma
	alpha-2 and delta forms heterodimers that are disulfide-linked

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RCD4

Susceptibility

to late onset bipolar disorder

Variant & Polymorphism insertion/deletion	In creasing the risk of late onset bipolar disorder

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS