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FLASH GENE

Symbol

CCDC39

contributors: mct - updated : 15/09/2008

HGNC name	coiled-coil domain containing 39
HGNC id	25244

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ICS16 immotile cilia syndrome 16
Location	3q26.33      Physical location : 180.331.796 - 180.397.283
Synonym symbol(s)	DKFZp434A128

DNA

TYPE	functioning gene
STRUCTURE	65.50 kb     20 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_181426 20 - 3848 NP_852091 - 941 - 2013 23255504

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

coiled-coil domain

HOMOLOGY

Homologene

FAMILY

CATEGORY

motor/contractile , unknown/unspecified

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
text	localizes to ciliary axonemes

basic FUNCTION	localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex
	axonemal protein whose absence results in failure to correctly assemble DNALI1-containing inner dynein arm complexes, the DRC and the radial spokes, thereby causing axonemal disorganization and dyskinetic beating

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ICS16

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS