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FLASH GENE

Symbol

C12orf4

contributors: mct - updated : 16-01-2019

HGNC name	chromosome 12 open reading frame 4
HGNC id	1184

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRT66 mental retardation, autosomal recessive 66
Location	12p13.32      Physical location : 4.596.910 - 4.647.637
Synonym name	hypothetical protein LOC57102
Synonym symbol(s)	DKFZP762P1013, FLJ21158, FLJ23899

DNA

TYPE	functioning gene
STRUCTURE	50.78 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map

see FGF6

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020374 14 - 3868 NP_065107 63.7 552 - 2017 27311568 NM_001352962 12 - 3551 NP_001339891 - 268 - 2017 27311568 NM_001346157 12 - 3529 NP_001333086 - 336 - 2017 27311568 NM_001346156 13 - 3658 NP_001333085 - 379 - 2017 27311568 NM_001346155 13 - 3724 NP_001333084 - 509 - 2017 27311568 NM_001304811 14 - 3860 NP_001291740 - 552 - 2017 27311568 NM_001346153 14 - 3732 NP_001333082 - 509 - 2017 27311568

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to Drosophila CG9986
	homolog to C.elegans C55A6.10

Homologene

FAMILY

DUF2362 family, macro clan/superfamily

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	is a cytoplasmic protein implicated in the early signaling events following FCER1A-induced cell activation
	plays a role in the early signaling events following FCER1A-induced cell activation
	is implicated in the early events of the cell degranulation pathway
	involvement in mast cell degranulation
	possible role for C12ORF4 in ADP-ribosylation signaling in asthma and related inflammatory diseases

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRT66

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS