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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含卷曲-卷曲-螺旋-卷曲-卷曲-螺旋结构域 2

种属: Homo sapiens

同用名: MNRR1; NS2TP; MIX17B; PARK22; C7orf17

基因 ID: 51142 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质属于一类真核 CX (9) C 蛋白质，其特征是四个半胱氨酸残基彼此间隔十个氨基酸。这些残基形成定义 CHCH 折叠的二硫键。为了应对压力，该蛋白质从线粒体膜间隙转移到细胞核，在那里它与细胞色素氧化酶 4I2 启动子中高度保守的 13 核苷酸氧反应元件结合，细胞色素氧化酶 4I2 是电子传递链末端酶的一个亚基。与重组信号序列结合蛋白 J 一致，该蛋白的结合在 4% 的氧气下激活氧反应元件。此外，已表明该蛋白是线粒体介导的细胞凋亡的负调节因子。响应于凋亡刺激，该蛋白的线粒体水平降低，使 BCL2 相关 X 蛋白寡聚化并激活半胱天冬酶级联。该基因的假基因存在于多条染色体上。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 2 月]

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 基因产物(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 蛋白结构

CHCH

CHCH: CHCH domain (114 - 146)

  • 0
  • 100
  • 151 a.a.
蛋白主名 其他名称

coiled-coil-helix-coiled-coil-helix domain-containing protein 2

16.7kD protein

CHCHD2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CHCHD2 Q9Y6H1 KRT40 Homo sapiens Q6A162
Validated Y2H
25416956
种属内
CHCHD2 Q9Y6H1 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Prey Pooling
25416956
种属内
CHCHD2 Q9Y6H1 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Array
25416956
种属内
CHCHD2 Q9Y6H1 EHMT2 Homo sapiens A2ABF9
Validated Y2H
25416956
种属内
CHCHD2 Q9Y6H1 EHMT2 Homo sapiens A2ABF9
Y2H Array
25416956
种属内
CHCHD2 Q9Y6H1 PBX4 Homo sapiens Q9BYU1
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 PBX4 Homo sapiens Q9BYU1
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 CTAG1A Homo sapiens P78358
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 CTAG1A Homo sapiens P78358
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 USP54 Homo sapiens Q70EL1-9
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 USP54 Homo sapiens Q70EL1-9
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 ADRA2C Homo sapiens P18825
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 ADRA2C Homo sapiens P18825
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 ZMYND12 Homo sapiens Q9H0C1
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 ZMYND12 Homo sapiens Q9H0C1
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 TSC1 Homo sapiens Q86WV8
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 TSC1 Homo sapiens Q86WV8
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 CHCHD10 Homo sapiens Q8WYQ3
Anti Tag CoIP
27499296
种属内
CHCHD2 Q9Y6H1 CHCHD10 Homo sapiens Q8WYQ3
Anti Tag CoIP
30530185
种属内
CHCHD2 Q9Y6H1 TRIM54 Homo sapiens Q9BYV2
Y2H Prey Pooling
25416956
种属内
CHCHD2 Q9Y6H1 TRIM54 Homo sapiens Q9BYV2
Validated Y2H
25416956
种属内
CHCHD2 Q9Y6H1 LHX4 Homo sapiens Q969G2
Validated Y2H
25416956
种属内
CHCHD2 Q9Y6H1 LHX4 Homo sapiens Q969G2
Y2H Array
31515488
种属内
CHCHD2 Q9Y6H1 LHX4 Homo sapiens Q969G2
Y2H Array
25416956
种属内
CHCHD2 Q9Y6H1 REL Homo sapiens Q04864
Validated Y2H
25416956
种属内
CHCHD2 Q9Y6H1 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
种属内
CHCHD2 Q9Y6H1 REL Homo sapiens Q04864
Y2H Array
25416956
种属内
CHCHD2 Q9Y6H1 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 P4HB Homo sapiens P07237
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 P4HB Homo sapiens P07237
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 TRIM42 Homo sapiens Q8IWZ5
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 TRIM42 Homo sapiens Q8IWZ5
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 TCF4 Homo sapiens P15884
Y2H Array
25416956
种属内
CHCHD2 Q9Y6H1 OIP5 Homo sapiens O43482
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 OIP5 Homo sapiens O43482
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 GOLGA2 Homo sapiens Q08379
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 GOLGA2 Homo sapiens Q08379
Validated Y2H
25416956
种属内
CHCHD2 Q9Y6H1 INCA1 Homo sapiens Q0VD86
Validated Y2H
25416956
种属内
CHCHD2 Q9Y6H1 INCA1 Homo sapiens Q0VD86
Y2H Array
25416956
种属内
CHCHD2 Q9Y6H1 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
25416956
种属内
CHCHD2 Q9Y6H1 CRYBA1 Homo sapiens P05813
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 CRYBA1 Homo sapiens P05813
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 POLDIP2 Homo sapiens Q9Y2S7
Anti Tag CoIP
27499296
种属内
CHCHD2 Q9Y6H1 POLDIP2 Homo sapiens Q9Y2S7
Anti Tag CoIP
33961781
种属内
CHCHD2 Q9Y6H1 POLDIP2 Homo sapiens Q9Y2S7
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 POLDIP2 Homo sapiens Q9Y2S7
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 PLEKHF2 Homo sapiens Q9H8W4
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 PLEKHF2 Homo sapiens Q9H8W4
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 IKZF3 Homo sapiens Q9UKT9
Y2H Array
31515488
种属内
CHCHD2 Q9Y6H1 IKZF3 Homo sapiens Q9UKT9
Validated Y2H
25416956
种属内
CHCHD2 Q9Y6H1 MIF4GD Homo sapiens A9UHW6-2
Y2H Prey Pooling
32296183
种属内
CHCHD2 Q9Y6H1 MIF4GD Homo sapiens A9UHW6-2
Y2H Array
32296183
种属内
CHCHD2 Q9Y6H1 KRT31 Homo sapiens Q15323
Y2H Array
25416956
种属间
CHCHD2 Q9Y6H1 P08563-PRO_0000041302 Rubella virus P08563-PRO_0000041302
IF
24955142
种属间
CHCHD2 Q9Y6H1 P08563-PRO_0000041302 Rubella virus P08563-PRO_0000041302
Pull Down
24955142
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02599 CHCHD2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CHCHD2 VGNC VGNC:54011
Mus musculus CHCHD2 MGD MGI:1261428
Rattus norvegicus CHCHD2 RGD RGD:1309819
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