2. Gene
  3. CHD2 - chromodomain helicase DNA binding protein 2 Gene

CHD2 - chromodomain helicase DNA binding protein 2 Gene

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

中文名称：染色体解旋酶 DNA 结合蛋白 2

种属: Homo sapiens

同用名: EEOC; DEE94

基因 ID: 1106 | 基因类型: protein coding

关于 CHD2

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:92,900,324-93,027,996 (from NCBI)

This gene has 34 transcripts (splice variants), 219 orthologues, 30 paralogues and is associated with 94 phenotypes. Ubiquitous expression in bone marrow (RPKM 26.2), thyroid (RPKM 13.2) and 25 other tissues.

功能概要

CHD 蛋白质家族的特征在于存在染色质 (染色质组织修饰剂) 结构域和 SNF2 相关解旋酶/ATP 酶结构域。 CHD 基因可能通过染色质结构的修饰来改变基因表达，从而改变转录装置对其染色体 DNA 模板的访问。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CHD2 基因产物(2)

mRNA Protein Name
NM_001042572.3 NP_001036037.1 chromodomain-helicase-DNA-binding protein 2 isoform 2
NM_001271.4 NP_001262.3 chromodomain-helicase-DNA-binding protein 2 isoform 1

CHD2 蛋白结构

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (263 - 330)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (378 - 447)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (487 - 767)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (826 - 905)

DUF4208

DUF4208: Domain of unknown function (DUF4208) (1459 - 1554)

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  • 1500
  • 1828 a.a.
蛋白主名 其他名称

chromodomain-helicase-DNA-binding protein 2

ATP-dependent helicase CHD2

CHD2 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
Intra CHD2 O14647 MID2 Homo sapiens Q9UJV3-2
Validated Y2H
25416956
Intra CHD2 O14647 MID2 Homo sapiens Q9UJV3-2
Y2H Prey Pooling
25416956
Intra CHD2 O14647 TEKT1 Homo sapiens Q969V4
Y2H Prey Pooling
25416956
Intra CHD2 O14647 BEND7 Homo sapiens Q8N7W2-2
Validated Y2H
25416956
Intra CHD2 O14647 TRIM41 Homo sapiens Q8WV44
Y2H
21516116
Intra CHD2 O14647 TRIM41 Homo sapiens Q8WV44
Y2H Prey Pooling
25416956
Intra CHD2 O14647 THAP1 Homo sapiens Q9NVV9
Validated Y2H
25416956
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
Developmental And Epileptic Encephalopathy 94

Epileptic Encephalopathy, Childhood-Onset

Eeoc

DEE94

Childhood Onset Epileptic Encephalopathy

Encephalopathy, Epileptic, Childhood-Onset
Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Sifrim-Hitz-Weiss Syndrome

SIHIWES

Sifrim-Hitz-Weiss Multiple Congenital Anomalies-Mental Retardation Syndrome
Epilepsy With Myoclonic-Atonic Seizures

Myoclonic Astatic Epilepsy

Doose Syndrome

Epilepsy With Myoclonic-Astatic Seizures

Epilepsy With Myoclono-Astatic Crisis

Myoclonic-Astatic Epilepsy

Emas

Mae

Myoclonic Atonic Epilepsy

Myoclonic-Astatic Epilepsy In Early Childhood
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
Chd2-Related Neurodevelopmental Disorders

Chd2 Myoclonic Encephalopathy

Chd2 Encephalopathy

Epileptic Encephalopathy, Childhood-Onset

Childhood-Onset Epileptic Encephalopathy

Eeoc
Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Prion Disease

Spongiform Encephalopathy

Transmissible Spongiform Encephalopathies

Prion Diseases

Prion Disease Pathway

Transmissible Spongiform Encephalopathy

Prion Induced Disorder

Prion Protein Disease

Inherited Human Transmissible Spongiform Encephalopathies

Prion Protein Diseases

Prion-Associated Disorders

Prion-Induced Disorders

Transmissible Dementias

Tses

Human Prion Disease

Tse

Encephalopathy, Transmissible Spongiform

Prion Disease, Susceptibility To

Spongiform Encephalopathies

Human Transmissible Spongiform Encephalopathies, Inherited
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
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-RS02607 CHD2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CHD2 VGNC VGNC:27278
Felis catus CHD2 VGNC VGNC:60844
Canis familiaris CHD2 VGNC VGNC:39200
Mus musculus CHD2 MGD MGI:2448567
Rattus norvegicus CHD2 RGD RGD:1310056
Macaca mulatta CHD2 VGNC VGNC:71028
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