CHD8 - chromodomain helicase DNA binding protein 8 Gene

Homo sapiens

Also known as IDDAM; AUTS18; HELSNF1

Gene ID: 57680 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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