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FLASH GENE

Symbol

C12orf65

contributors: npt/shn - updated : 27-06-2019

HGNC name	chromosome 12 open reading frame 65
HGNC id	26784

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BEHRS2 Behr syndrome 2 COFD7 Combined oxidative phosphorylation deficiency 7 SPG55 spastic paraplegia type 55
Location	12q24.31      Physical location : 123.717.843 - 123.742.506
Synonym name	probable peptide chain release factor C12orf65, mitochondrial
Synonym symbol(s)	FLJ38663, My030, COXPD7, SPG55

DNA

TYPE	functioning gene
STRUCTURE	24.64 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D12S1349 - D12S1603 - C12orf65 - D12S378 - D12S1612 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152269 3 - 1692 NP_689482 18.7 166 - - NM_001194995 3 - 1901 NP_001181924 18.7 166 - - NM_001143905 3 - 1608 NP_001137377 18.7 166 - -

EXPRESSION

Type

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 pharynx         Endocrine parathyroid         Lymphoid/Immune thymus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to LOC100910427, Rattus norvegicus
	ortholog to 2810006K23Rik, Mus musculus
	ortholog to C12H12orf65, Pan troglodytes

Homologene

FAMILY

prokaryotic/mitochondrial release factor family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	may be a soluble matrix protein that does not associate with the mitochondrial ribosome, so it could perhaps play a role in processing peptidyl-tRNAs that have been prematurely released during polypeptide elongation
	might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation
	participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis
	involved in mitochondrial translation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COFD7 , SPG55 , BEHRS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS