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

CHD2 - chromodomain helicase DNA binding protein 2 Gene

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

Also known as EEOC; DEE94

Gene ID: 1106 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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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  • 1828 a.a.
Protein Preferred Names Protein Names

chromodomain-helicase-DNA-binding protein 2

ATP-dependent helicase CHD2

Related Diseases

Diseases Alias
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
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-RS02607 CHD2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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