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FLASH GENE

Symbol

COX20

contributors: mct - updated : 30-04-2013

HGNC name	Cox2 chaperone homolog (S. cerevisiae)
HGNC id	26970

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AHMU ataxia and muscle hypotonia
Location	1q44      Physical location : -
Synonym name	protein FAM36A
	family with sequence similarity 36, member A
	cytochrome c oxidase protein 20 homolog
Synonym symbol(s)	FLJ43269, FAM36A

DNA

TYPE	functioning gene
STRUCTURE	9.72 kb     4 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_198076 4 - 2632 NP_932342 - 118 - 2012 22678713

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       moderately Digestive intestine small intestine     highly   liver       predominantly   stomach       moderately Lymphoid/Immune lymph node       highly Nervous brain       moderately Reproductive female system uterus cervix   highly   male system prostate     moderately Respiratory lung       moderately Urinary bladder       moderately   kidney       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	hydrophilic domains located in the intermembrane space
	C-terminus is substantially protected from proteinase K by the outer mitochondrial membrane

HOMOLOGY

interspecies	ortholog to rattus Fam36a_predicted
	ortholog to fungal complex IV assembly factor COX20

Homologene

FAMILY

FAM36 family

CATEGORY

chaperone/stress , enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
text	integral inner membrane protein

basic FUNCTION	acts as a membrane-bound chaperone necessary for cleavage of COX2 and for interaction of the mature protein with other subunits of cytochrome oxidase in a later step of the assembly process
	control the coordinate assembly process to prevent potentially harmful redox reactions of unassembled or misassembled subunits
	serves as a substrate-specific cofactor during proteolysis and modulates the initial interaction of nonassembled COX2 with the protease
	required for efficient export of the COX2 C-tail
	COX20 chaperone has important roles in leader peptide processing, C-tail export, and stabilization of COX2
	involvement of FAM36A in complex IV function
	function in complex IV assembly

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts by co-immune precipitation with COX18, and this interaction requires the presence of COX2
	COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AHMU

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS