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FLASH GENE

Symbol

CCDC78

contributors: mct - updated : 06-09-2012

HGNC name	coiled-coil domain containing 78
HGNC id	14153

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMAC congenital myopathy with prominent internal nuclei, atypical cores
Location	16p13.3      Physical location : 772.582 - 776.473
Synonym name	chromosome 16 open reading frame 25
Synonym symbol(s)	C16orf25, JFP10, FLJ34512

DNA

TYPE	functioning gene
STRUCTURE	3.89 kb     14 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_001031737 14 - 1611 NP_001026907 48.4 438 - 2001 11157797 isoform 1 variant 2 - - 3454 - 347 - 2001 11157797 isoform 2

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 Digestive stomach       moderately Reproductive female system uterus     moderately Respiratory lung       moderately Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

coiled-coil domain

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

basic FUNCTION

potential importance for the regulation of essential muscle function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMAC

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS