CHCHD2 - coiled-coil-helix-coiled-coil-helix domain containing 2 Gene

Also Known as MNRR1; NS2TP; MIX17B; PARK22; C7orf17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51142

About CHCHD2

Cytogenetic location: 7p11.2 Genomic coordinates (GRCh38): 7:56,101,573-56,106,476 (from NCBI)

This gene has 2 transcripts (splice variants), 280 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 189.5), bone marrow (RPKM 102.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten Amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated Apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the Caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

CHCHD2 Products (2)

mRNA	Protein	Name
NM_001320327.2	NP_001307256.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 2 precursor isoform 1
NM_016139.4	NP_057223.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 2 precursor isoform 2

CHCHD2 Protein Structure

CHCH

0
100
151 a.a.

Protein Preferred Names	Protein Names
coiled-coil-helix-coiled-coil-helix domain-containing protein 2	16.7kD protein

CHCHD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHCHD2	Q9Y6H1	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
Intra	CHCHD2	Q9Y6H1	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Prey Pooling	25416956
Intra	CHCHD2	Q9Y6H1	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Array	25416956
Intra	CHCHD2	Q9Y6H1	EHMT2	Homo sapiens	A2ABF9	Validated Y2H	25416956
Intra	CHCHD2	Q9Y6H1	EHMT2	Homo sapiens	A2ABF9	Y2H Array	25416956
Intra	CHCHD2	Q9Y6H1	PBX4	Homo sapiens	Q9BYU1	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	PBX4	Homo sapiens	Q9BYU1	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	CTAG1A	Homo sapiens	P78358	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	CTAG1A	Homo sapiens	P78358	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	USP54	Homo sapiens	Q70EL1-9	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	USP54	Homo sapiens	Q70EL1-9	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	ADRA2C	Homo sapiens	P18825	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	ADRA2C	Homo sapiens	P18825	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	ZMYND12	Homo sapiens	Q9H0C1	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	ZMYND12	Homo sapiens	Q9H0C1	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	TSC1	Homo sapiens	Q86WV8	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	TSC1	Homo sapiens	Q86WV8	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	CHCHD10	Homo sapiens	Q8WYQ3	Anti Tag CoIP	27499296
Intra	CHCHD2	Q9Y6H1	CHCHD10	Homo sapiens	Q8WYQ3	Anti Tag CoIP	30530185
Intra	CHCHD2	Q9Y6H1	TRIM54	Homo sapiens	Q9BYV2	Y2H Prey Pooling	25416956
Intra	CHCHD2	Q9Y6H1	TRIM54	Homo sapiens	Q9BYV2	Validated Y2H	25416956
Intra	CHCHD2	Q9Y6H1	LHX4	Homo sapiens	Q969G2	Validated Y2H	25416956
Intra	CHCHD2	Q9Y6H1	LHX4	Homo sapiens	Q969G2	Y2H Array	31515488
Intra	CHCHD2	Q9Y6H1	LHX4	Homo sapiens	Q969G2	Y2H Array	25416956
Intra	CHCHD2	Q9Y6H1	REL	Homo sapiens	Q04864	Validated Y2H	25416956
Intra	CHCHD2	Q9Y6H1	REL	Homo sapiens	Q04864	Y2H Prey Pooling	25416956
Intra	CHCHD2	Q9Y6H1	REL	Homo sapiens	Q04864	Y2H Array	25416956
Intra	CHCHD2	Q9Y6H1	TRAF2	Homo sapiens	Q12933	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	TRAF2	Homo sapiens	Q12933	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	P4HB	Homo sapiens	P07237	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	P4HB	Homo sapiens	P07237	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	TRIM42	Homo sapiens	Q8IWZ5	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	TRIM42	Homo sapiens	Q8IWZ5	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	TCF4	Homo sapiens	P15884	Y2H Array	25416956
Intra	CHCHD2	Q9Y6H1	OIP5	Homo sapiens	O43482	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	OIP5	Homo sapiens	O43482	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	GOLGA2	Homo sapiens	Q08379	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	GOLGA2	Homo sapiens	Q08379	Validated Y2H	25416956
Intra	CHCHD2	Q9Y6H1	INCA1	Homo sapiens	Q0VD86	Validated Y2H	25416956
Intra	CHCHD2	Q9Y6H1	INCA1	Homo sapiens	Q0VD86	Y2H Array	25416956
Intra	CHCHD2	Q9Y6H1	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	25416956
Intra	CHCHD2	Q9Y6H1	CRYBA1	Homo sapiens	P05813	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	CRYBA1	Homo sapiens	P05813	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	POLDIP2	Homo sapiens	Q9Y2S7	Anti Tag CoIP	27499296
Intra	CHCHD2	Q9Y6H1	POLDIP2	Homo sapiens	Q9Y2S7	Anti Tag CoIP	33961781
Intra	CHCHD2	Q9Y6H1	POLDIP2	Homo sapiens	Q9Y2S7	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	POLDIP2	Homo sapiens	Q9Y2S7	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	IKZF3	Homo sapiens	Q9UKT9	Y2H Array	31515488
Intra	CHCHD2	Q9Y6H1	IKZF3	Homo sapiens	Q9UKT9	Validated Y2H	25416956
Intra	CHCHD2	Q9Y6H1	MIF4GD	Homo sapiens	A9UHW6-2	Y2H Prey Pooling	32296183
Intra	CHCHD2	Q9Y6H1	MIF4GD	Homo sapiens	A9UHW6-2	Y2H Array	32296183
Intra	CHCHD2	Q9Y6H1	KRT31	Homo sapiens	Q15323	Y2H Array	25416956
Cross	CHCHD2	Q9Y6H1	P08563-PRO_0000041302	Rubella virus	P08563-PRO_0000041302	IF	24955142
Cross	CHCHD2	Q9Y6H1	P08563-PRO_0000041302	Rubella virus	P08563-PRO_0000041302	Pull Down	24955142

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Parkinson Disease 22, Autosomal Dominant	PARK22 Parkinson'S Disease 22 Autosomal Dominant Parkinson'S Disease 22 Parkinson Disease 22
Tremor, Hereditary Essential, 3	ETM3 Essential Tremor 3 Essential Tremor, Hereditary, 3 Hereditary Essential Tremor 3
Aging
Parkinson Disease 21	PARK21 Parkinson'S Disease 21 Parkinson Disease, Type 21
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Essential Tremor	Benign Essential Tremor Familial Tremor Hereditary Essential Tremor Essential Hereditary Tremor Shaky Hand Syndrome Benign Essential Tremor Syndrome Tremor Hereditary Essential Essential Tremor, Susceptibility To Tremor, Hereditary Essential
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Early-Onset Parkinson'S Disease	Early-Onset Parkinson Disease
Dementia, Lewy Body	Lewy Body Dementia Lewy Body Disease Diffuse Lewy Body Disease Dementia With Lewy Bodies DLB Autosomal Dominant Diffuse Lewy Body Disease Cortical Lewy Body Disease Dementia, Lewy Body, Susceptibility To Lewy Body Dementia, Susceptibility To Senile Dementia Of The Lewy Body Type Dementia Of The Lewy Body Type Lbd Diffuse Lewy Body Disease With Gaze Palsy Dysphasic Dementia Hereditary Lewy Body Type Senile Dementia Lewy Body Variant Of Alzheimer Disease Lewy Bodies Lewy Body Dlbd - [Diffuse Lewy Body Disease] Clbd - [Cortical Lewy Body Disease]
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02599	CHCHD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CHCHD2	VGNC	VGNC:54011
Mus musculus	CHCHD2	MGD	MGI:1261428
Rattus norvegicus	CHCHD2	RGD	RGD:1309819
Others	CHCHD2	NCBI