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CHD2 - chromodomain helicase DNA binding protein 2 Gene

Also Known as EEOC; DEE94

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1106

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

SNF2_N

Helicase_C

DUF4208

0
300
600
900
1200
1500
1828 a.a.

Protein Preferred Names	Protein Names
chromodomain-helicase-DNA-binding protein 2	ATP-dependent helicase CHD2

CHD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02607	CHD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04017	DSCAM Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CHD2	NCBI