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FLASH GENE

Symbol

CACNA2D2

contributors: mct - updated : 05-03-2014

HGNC name	calcium channel, voltage-dependent, alpha 2/delta subunit 2
HGNC id	1400

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3p21.3      Physical location : 50.400.232 - 50.540.892
Synonym symbol(s)	KIAA0558

DNA

TYPE	functioning gene
STRUCTURE	5482.00 kb     38 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	pter - D3S582 - CCR5 - CLEC3B - MYL3 - MAP4 - PTHR1 - COL7A1 - IMPDH2 - GPX1 GPX1 - AMT - RHOA - APEH - GNAI2 - GNAT1 - CACNA2D2 - UBE1L - TKT - ALAS1 - D3S1578 - D3S1588 - cen
Authors	Gene Map (98)

regionally located

localized in a critical region for lung cancer

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed - - - 5460 129 1145 - Gao - - initiation site 5460 129 1145 - Gao - - initiation site 5280 - 1076 - Gao lacking the N terminal 70 first AAs

EXPRESSION

Type

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         Endocrine pancreas         Nervous brain         Reproductive male system testis       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	disulfide linked glycoprotein complex formed by an integral alpha 2 chain
	a delta chain embedded in the outer layer of the membrane

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

voltage-dependent calcium channel (VDCC), alpha 2-delta regulatory subunit

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the voltage gated calcium channel

INTERACTION

DNA

RNA

small molecule

protein

CACNA2D2 and KCNH8, appeared to be regulated by CTNNB1, although the binding of CTNNB1 to the regulatory sequences of these genes could not be confirmed

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

lung cancer

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutated in ducky mice with altered Purkinje cells