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FLASH GENE

Symbol

C2CD4A

contributors: mct - updated : 16-05-2018

HGNC name	C2 calcium dependent domain containing 4A
HGNC id	33627

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	15q22.2      Physical location : 62.359.175 - 62.363.109
Synonym name	nuclear localized factor 1
	family with sequence similarity 148, member A
Synonym symbol(s)	NFL1, DKFZp686O2263, FAM148A

DNA

TYPE	functioning gene
STRUCTURE	3.94 kb     2 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_207322 2 - 3461 NP_997205 39 369 - Oh (2005)

EXPRESSION

Type

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 pancreas exocrine           stomach       highly Endocrine pancreas

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

FAM148 family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus

basic FUNCTION

C2CD4A and C2CD4B were both identified as inflammation-responsive genes in endothelial cells, suggesting that they could indeed be co-regulated

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to type 2 diabetes

Variant & Polymorphism other

rs7163757 contributes to genetic risk of islet dysfunction and T2D by increasing NFAT-mediated islet enhancer activity and modulating C2CD4B, and possibly C2CD4A

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS