CHD8 - chromodomain helicase DNA binding protein 8 Gene

Also Known as IDDAM; AUTS18; HELSNF1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57680

About CHD8

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:21,385,199-21,456,123 (from NCBI)

This gene has 24 transcripts (splice variants), 202 orthologues, 30 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 8.8) and 25 other tissues.

Summary

This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]

CHD8 Products (2)

mRNA	Protein	Name
NM_001170629.2	NP_001164100.1	chromodomain-helicase-DNA-binding protein 8 isoform 1
NM_020920.4	NP_065971.2	chromodomain-helicase-DNA-binding protein 8 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	18378692	GOA
enables ATP-dependent chromatin remodeler activity	IDA IDA: Inferred from direct assay	18378692	GOA
enables DNA binding	IMP IMP: Inferred from mutant phenotype	18378692	GOA
enables beta-catenin binding	IDA IDA: Inferred from direct assay	18378692	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	22083958	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	17938208	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15960975	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	24998929	GOA
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	18378692	GOA
involved in digestive tract development	IMP IMP: Inferred from mutant phenotype	24998929	GOA
involved in mRNA processing	IMP IMP: Inferred from mutant phenotype	36537238	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	18378692	GOA
acts upstream of or within negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	22083958	GOA
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	18378692	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	25294932	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	17938208	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	17938208	GOA
involved in positive regulation of transcription by RNA polymerase III	IMP IMP: Inferred from mutant phenotype	17938208	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MLL1 complex	IDA IDA: Inferred from direct assay	15960975	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18378692	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	18378692	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHD8 Protein Structure

Chromo

SNF2_N

Helicase_C

BRK

0
400
800
1200
1600
2000
2400
2581 a.a.

Protein Preferred Names	Protein Names
chromodomain-helicase-DNA-binding protein 8	ATP-dependent helicase CHD8

CHD8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHD8	Q9HCK8	ASH2L	Homo sapiens	Q9UBL3	Anti Tag CoIP	20085832
Intra	CHD8	Q9HCK8	WDR5	Homo sapiens	P61964	Anti Tag CoIP	20085832
Intra	CHD8	Q9HCK8	RBBP5	Homo sapiens	Q15291	Anti Tag CoIP	20085832
Intra	CHD8	Q9HCK8	ACOT7	Homo sapiens	O00154	Crosslink	26949739

Cross: Cross-species interaction Intra: Intraspecies interaction

CHD8 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86813	CHD8 Antibody (YA6506)	WB, ICC/IF, IHC-P, IP, ChIP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder With Autism And Macrocephaly	Autism, Susceptibility To, 18 IDDAM Autism 18, Formerly Autism, Susceptibility To, 18, Formerly Auts18, Formerly Autism 18 AUTS18
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Overgrowth Syndrome	Overgrowth Congenital Malformation Syndromes Involving Early Overgrowth
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Rare Genetic Intellectual Disability
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Schizophrenia 8	SCZD8 Schizophrenia Susceptibility Locus, Chromosome 18-Related Schizophrenia 8 With Or Without An Affective Disorder
Helsmoortel-Van Der Aa Syndrome	HVDAS Mrd28 Adnp Syndrome Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28 Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder Mental Retardation, Autosomal Dominant 28, Formerly Mrd28, Formerly Autosomal Dominant Mental Retardation 28 Adnp-Related Intellectual Disability And Autism Spectrum Disorder Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
Macrocephaly/Autism Syndrome	Macrocephaly-Autism Syndrome Macrocephaly-Intellectual Disability-Autism Syndrome MCEPHAS
Syndromic X-Linked Intellectual Disability Nascimento Type	Mental Retardation, X-Linked Syndromic, Nascimento-Type X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Non-Syndromic X-Linked Intellectual Disability 93	Mrx93 X-Linked Mental Retardation With Macrocephaly
Intellectual Developmental Disorder, Autosomal Dominant 23	MRD23 Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency Mental Retardation, Autosomal Dominant 23 Autosomal Dominant Non-Syndromic Intellectual Disability 23 Autosomal Dominant Intellectual Developmental Disorder 23 Autosomal Dominant Mental Retardation 23 Mental Retardation, Autosomal Dominant, Type 23
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Vulvar Melanoma	Malignant Melanoma Of Vulva
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Tatton-Brown-Rahman Syndrome	TBRS Dnmt3a Overgrowth Syndrome Tatton-Brown-Rahman Overgrowth Syndrome Dos Dnmt3a-Related Overgrowth Syndrome Doid:0112339 Dose
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Weaver Syndrome	Wss Weaver-Smith Syndrome WVS Weaver-Like Syndrome Weaver-Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Syndrome Camptodactyly - Overgrowth - Unusual Facies Ezh2 Related Overgrowth Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly Weaver Smith Syndrome Weaver Like Syndrome Weaver Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Weaver Syndrome 1 Weaver Syndrome 2 Wvs1 Wvs2
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Specific Developmental Disorder
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Syndromic Intellectual Disability
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02613	CHD8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CHD8	VGNC	VGNC:39206
Felis catus	CHD8	VGNC	VGNC:60849
Bos taurus	CHD8	VGNC	VGNC:27283
Mus musculus	CHD8	MGD	MGI:1915022
Macaca mulatta	CHD8	VGNC	VGNC:71060
Rattus norvegicus	CHD8	RGD	RGD:620696
Others	CHD8	NCBI