Reactome | UniProt:Q9Y6H1 CHCHD2

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UniProt:Q9Y6H1 CHCHD2 Show undefined attributes

chain	chain:1-151
checksum	5403662D8DB4FB86
comment	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).SUBUNIT Interacts with RBPJ.SUBCELLULAR LOCATION Mainly localized in the intermembrane space.INDUCTION Up-regulated by hypoxia (4% oxygen) (at protein level).POLYMORPHISM Mutations in CHCHD2 are rare, and might vary by ethnic origin.DISEASE The gene represented in this entry may be involved in disease pathogenesis.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:12438951] RefSeq:NP_057223.1 [DatabaseIdentifier:12279823] Pharos - Targets:Q9Y6H1 [DatabaseIdentifier:12257996] PRO:Q9Y6H1 [DatabaseIdentifier:12141521] PDB:9OYT [DatabaseIdentifier:12141520] PDB:9OYR [DatabaseIdentifier:12119486] OpenTargets:ENSG00000106153 [DatabaseIdentifier:11835034] HPA:ENSG00000106153-CHCHD2 [DatabaseIdentifier:11781911] GeneCards:CHCHD2 [DatabaseIdentifier:11739701] ENSEMBL:ENST00000395422 [DatabaseIdentifier:11617002] ENSEMBL:ENSP00000378812 [DatabaseIdentifier:11504760] ENSEMBL:ENSG00000106153
databaseName	UniProt
dbId	223358
description	recommendedName: Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 alternativeName: Aging-associated gene 10 protein alternativeName: HCV NS2 trans-regulated protein shortName: NS2TP
displayName	UniProt:Q9Y6H1 CHCHD2
geneName	CHCHD2 C7orf17 AAG10
identifier	Q9Y6H1
isSequenceChanged	false
keyword	3D-structure Activator Disulfide bond Mitochondrion Neurodegeneration Nucleus Parkinson disease Parkinsonism Proteomics identification Reference proteome Transcription
modified	[InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType	Protein
name	CHCHD2
otherIdentifier	11758099_x_at 11758127_s_at 1559993_PM_at 1559993_at 17057983 217720_PM_at 217720_at 2321908 2813517 2813518 2813519 3051930 3051931 3051932 3051933 3051934 3051935 3051936 3051937 3051938 3051941 3051942 3051943 3170119 3483169 51142 57076_at 8139758 A_23_P157405 A_24_P414980 GO:0005515 GO:0005634 GO:0005739 GO:0005758 GO:0006355 GO:0007005 GO:0034599 GO:0043467 GO:0043565 GO:0045944 GO:0140297 GO:1900037 GO:1905448 HMNXSV003037373 Hs2.406340.1.S1_3p_at ILMN_1815124 ILMN_2191681 PH_hs_0030014 PH_hs_0036790 TC07001408.hg g7705850_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-6800100] 2xHC-CHCHD2 [mitochondrial intermembrane space] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1307777] CHCHD2 [mitochondrial intermembrane space] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12705427] UCSC:Q9Y6H1 CHCHD2 [ReferenceDNASequence:12105379] OMIM:616244 CHCHD2 [ReferenceDNASequence:12084203] NCBI Gene:51142 CHCHD2 [ReferenceDNASequence:12000110] Monarch:51142 CHCHD2 [ReferenceDNASequence:11908465] KEGG:hsa:51142 CHCHD2 [ReferenceDNASequence:11813512] HGNC:21645 CHCHD2 [ReferenceDNASequence:11431250] dbSNP Gene:51142 CHCHD2 [ReferenceDNASequence:11405101] CTD Gene:51142 CHCHD2 [ReferenceDNASequence:11395078] COSMIC - genes:CHCHD2 CHCHD2 [ReferenceDNASequence:11370321] BioGPS Gene:51142 CHCHD2 [ReferenceDNASequence:ensembl:ENSG00000106153] ENSEMBL:ENSG00000106153 CHCHD2
referenceTranscript	[ReferenceRNASequence:12620467] RefSeq:NM_016139.4 CHCHD2
schemaClass	ReferenceGeneProduct
secondaryIdentifier	CHCH2_HUMAN Q498C3 Q6NZ50
sequenceLength	151
species	[Species:48887] Homo sapiens
stId	uniprot:Q9Y6H1
url	http://purl.uniprot.org/uniprot/Q9Y6H1

Referrals

(interactor)	[UndirectedInteraction:11294555] UniProt:Q9H2A9 <-> UniProt:Q9Y6H1 (IntAct) [UndirectedInteraction:11253185] UniProt:Q9Y3Y2 <-> UniProt:Q9Y6H1 (IntAct) [UndirectedInteraction:11244783] UniProt:Q12933 <-> UniProt:Q9Y6H1 (IntAct) [UndirectedInteraction:11226025] UniProt:P42858 <-> UniProt:Q9Y6H1 (IntAct) [UndirectedInteraction:11219715] UniProt:Q14739 <-> UniProt:Q9Y6H1 (IntAct) [UndirectedInteraction:11197911] UniProt:Q08379 <-> UniProt:Q9Y6H1 (IntAct) [UndirectedInteraction:11184617] UniProt:P07237 <-> UniProt:Q9Y6H1 (IntAct) [UndirectedInteraction:11150705] UniProt:P67809 <-> UniProt:Q9Y6H1 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-6800100] 2xHC-CHCHD2 [mitochondrial intermembrane space] [EntityWithAccessionedSequence:R-HSA-1307777] CHCHD2 [mitochondrial intermembrane space]
(referenceSequence)	[IntraChainCrosslinkedResidue:6800098] Intra-chain Crosslink via L-cystine (cross-link) at 134 and 144 [IntraChainCrosslinkedResidue:6800099] Intra-chain Crosslink via L-cystine (cross-link) at 144 and 134

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