CHCHD2
entrez
51142
canonical
uniprot
Q9Y6H1
canonical
ensembl
ENSG00000106153
resolver
ensp
ENSP00000378812
resolver
ensp
ENSP00000765471
resolver
enst
ENST00000395422
resolver
genesymbol
CHCHD2
resolver
genesymbol_syn
C7orf17
resolver
hgnc
HGNC:21645
resolver
uniprot
Q498C3
resolver
uniprot
Q6NZ50
resolver
uniprot_entry
CHCH2_HUMAN
resolver
uniprot_sec
Q498C3
resolver
uniprot_sec
Q6NZ50
resolver
amino_acid_sequence
MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTLGHAITGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQFLECAQNQGDIKLCEGFNEVLKQCRLANGLA
uniprot
proteins
disease_involvement
DISEASE: Parkinson disease 22 (PARK22) [MIM:616710]: An autosomal dominant form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO:0000269|PubMed:25662902}. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
function
FUNCTION: Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen) (PubMed:23303788). {ECO:0000269|PubMed:23303788}.
uniprot
proteins
mass_dalton
15513
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23303788
uniprot
proteins
pubmed
25662902
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26067113
uniprot
proteins
pubmed
26561290
uniprot
proteins
sequence_length
151
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23303788}. Mitochondrion {ECO:0000269|PubMed:25662902}. Mitochondrion intermembrane space {ECO:0000269|PubMed:25662902}. Note=Mainly localized in the intermembrane space. {ECO:0000269|PubMed:25662902}.
uniprot
proteins