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

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 51142 | Gene type: protein coding

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

CHCH: CHCH domain (114 - 146)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02599 CHCHD2 Human Pre-designed siRNA Set A Pre-designed Sets / 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