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FLASH GENE

Symbol

FASTKD2

contributors: mct - updated : 24-03-2014

HGNC name	FAST kinase domains 2
HGNC id	29160

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ECMBA mitochondrial encephalomyopathy with asymmetrical brain atrophy
Location	2q33.3      Physical location : 207.630.111 - 207.660.909
Synonym name	related to cell cycle progression 2 protein
	KIAA0971
	FAST kinase domain-containing protein 2
Synonym symbol(s)	KIAA0971

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	30.80 kb     12 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_001136194 12 - 6945 NP_001129666 81 710 - Hillier (2005) NM_001136193 12 - 6930 NP_001129665 - 710 - - NM_014929 12 - 6837 NP_055744 - 710 - -

EXPRESSION

Type	ubiquitous

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 Cardiovascular vessel         Digestive esophagus       highly   pharynx       highly Lymphoid/Immune thymus         Nervous nerve       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Nervous

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal two potential traslation-initiation methionine residues
	C-terminal FAST kinase domain

HOMOLOGY

intraspecies

homolog to cell cycle progression 2 protein

Homologene

FAMILY

FAST kinase family, FASTKD family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria

basic FUNCTION	protein kinase activity, playing a role in mitochondrial apoptosis
	may be having a role in the finely-tuned regulation of heath production by mitochondria
	mitochondrial protein essential for cellular respiration
	DHX30 and DDX28 and FASTKD2 are required for mitochondrial ribosome biogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

cell & other

REGULATION

repressed by

DIF-1 complex, found to repress FASTKD2, a putative proapoptotic gene, in breast cancer cells (Pubmed 21444724)

Other

regulation of FASTKD2 by ITGB3BP and the DIF-1 complex acts is a novel death switch that selectively modulates apoptosis in breast cancer (Pubmed 21444724)

ASSOCIATED DISORDERS

corresponding disease(s)

ECMBA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         associated with COX deficiency in skeletal muscle

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS