Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CC2D2A

contributors: mct/npt - updated : 25-10-2011

HGNC name	coiled-coil and C2 domain containing 2A
HGNC id	29253

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COACH1 COACH syndrome 1 JBTS9 Joubert syndrome 9 MKS6 Meckel syndrome, type 6 MRRP mental retardation with retinitis pigmentosa
Location	4p15.33      Physical location : 15.471.488 - 15.603.180
Synonym name	Meckel syndrome, type 6
Synonym symbol(s)	KIAA1345, MKS6, JBTS9

DNA

TYPE	functioning gene
STRUCTURE	131.80 kb     38 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001164720 5 - 1542 - 111 - 2008 18513680 NM_001080522 38 - 5257 - 1620 - 2008 18513680 NM_020785 7 - 1682 - 122 - 2008 18513680

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 Digestive liver       highly Endocrine pancreas       highly Nervous nerve       highly Reproductive male system prostate     highly Respiratory lung       highly Urinary kidney       highly Visual eye retina     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a calcium binding domain (C2) domain from residue 1042-1202
	three coiled-coil domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	colocalizes at the basal bodies of cilia

basic FUNCTION	having an important role for neuronal development, disruption of which leads to developmental delay
	playing a critical role in cilia formation
	implicated in cilium/basal body function
	having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interteracting with CEP290 (having functions in the primary cilium/basal body protein network)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRRP , MKS6 , JBTS9 , COACH1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS