Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1106
Gene name Gene Name - the full gene name approved by the HGNC.
Chromodomain helicase DNA binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHD2
Synonyms (NCBI Gene) Gene synonyms aliases
DEE94, EEOC
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2272457 C>G,T Pathogenic, benign Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs3210462 C>T Pathogenic Stop gained, genic downstream transcript variant, coding sequence variant
rs143043614 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs146691368 C>A,T Likely-pathogenic, pathogenic Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs186163798 C>T Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT043970 hsa-miR-378a-5p CLASH 23622248
MIRT042664 hsa-miR-196b-5p CLASH 23622248
MIRT042397 hsa-miR-450a-5p CLASH 23622248
MIRT440951 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440951 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000785 Component Chromatin IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
GO:0003677 Function DNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602119 1917 ENSG00000173575
Protein
UniProt ID O14647
Protein name Chromodomain-helicase-DNA-binding protein 2 (CHD-2) (EC 3.6.4.-) (ATP-dependent helicase CHD2)
Protein function ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00385 Chromo 261 344 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF00385 Chromo 378 447 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF00176 SNF2_N 438 768 SNF2 family N-terminal domain Family
PF00271 Helicase_C 791 905 Helicase conserved C-terminal domain Family
PF18375 CDH1_2_SANT_HL1 1129 1218 CDH1/2 SANT-Helical linker 1 Domain
PF13907 DUF4208 1459 1554 Domain of unknown function (DUF4208) Domain
Sequence
MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESS
ESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPS
RFNIKEEASSGSESGSPKRRGQRQLKKQEKWKQEPSEDEQEQGTSAESEPEQKKVKARRP
VPRRTVPKPRVKKQPKTQRGKRKKQDSSDEDDDDDEAPKRQTRRRAAKNVSYKEDDDFET
DSDDLIEMTGEGVDEQQDNSETIEKVLDSRLGKKGATGASTTVYAIEANGDPSGDFDTEK
DEGEIQYLIKWKGWSYIHSTWESEESLQQQKVKGLKKLENFKKK
EDEIKQWLGKVSPEDV
EYFNCQQELASELNKQYQIVERVIAVKTSKSTLGQTDFPAHSRKPAPSNEPEYLCKWMGL
PYSECSWEDEALIGKKF
QNCIDSFHSRNNSKTIPTRECKALKQRPRFVALKKQPAYLGGE
NLELRDYQLEGLNWLAHSWCKNNSVILADEMGLGKTIQTISFLSYLFHQHQLYGPFLIVV
PLSTLTSWQREFEIWAPEINVVVYIGDLMSRNTIREYEWIHSQTKRLKFNALITTYEILL
KDKTVLGSINWAFLGVDEAHRLKNDDSLLYKTLIDFKSNHRLLITGTPLQNSLKELWSLL
HFIMPEKFEFWEDFEEDHGKGRENGYQSLHKVLEPFLLRRVKKDVEKSLPAKVEQILRVE
MSALQKQYYKWILTRNYKALAKGTRGSTSGFLNIVMELKKCCNHCYLI
KPPEENERENGQ
EILLSLIRSSGKLILLDKLLTRLRERGNRVLIFSQMVRMLDILAEYLTIKHYPFQRLDGS
IKGEIRKQALDHFNADGSEDFCFLLSTRAGGLGINLASADTVVIFDSDWNPQNDLQAQAR
AHRIG
QKKQVNIYRLVTKGTVEEEIIERAKKKMVLDHLVIQRMDTTGRTILENNSGRSNS
NPFNKEELTAILKFGAEDLFKELEGEESEPQEMDIDEILRLAETRENEVSTSATDELLSQ
FKVANFATMEDEEELEERPHKDWDEIIPEEQRKKVEEEERQKELEEIYMLPRIRSSTKKA
QTNDSDSDTESKRQAQRSSASESETEDSDDDKKPKRRGRPRSVRKDLVEGFTDAEIRRFI
KAYKKFGLPLERLECIARDAELVDKSVADLKRLGELIHNSCVSAMQEYEEQLKENASEGK
GPGKRRGPTIKISGVQVN
VKSIIQHEEEFEMLHKSIPVDPEEKKKYCLTCRVKAAHFDVE
WGVEDDSRLLLGIYEHGYGNWELIKTDPELKLTDKILPVETDKKPQGKQLQTRADYLLKL
LRKGLEKKGAVTGGEEAKLKKRKPRVKKENKVPRLKEEHGIELSSPRHSDNPSEEGEVKD
DGLEKSPMKKKQKKKENKENKEKQMSSRKDKEGDKERKKSKDKKEKPKSGDAKSSSKSKR
SQGPVHITAGSEPVPIGEDEDDDLDQETFSICKERMRPVKKALKQLDKPDKGLNVQEQLE
HTRNCLLKIGDRIAECLKAYSDQEHIKLWRRNLWIFVSKFTEFDARKLHKLYKM
AHKKRS
QEEEEQKKKDDVTGGKKPFRPEASGSSRDSLISQSHTSHNLHPQKPHLPASHGPQMHGHP
RDNYNHPNKRHFSNADRGDWQRERKFNYGGGNNNPPWGSDRHHQYEQHWYKDHHYGDRRH
MDAHRSGSYRPNNMSRKRPYDQYSSDRDHRGHRDYYDRHHHDSKRRRSDEFRPQNYHQQD
FRRMSDHRPAMGYHGQGPSDHYRSFHTDKLGEYKQPLPPLHPAVSDPRSPPSQKSPHDSK
SPLDHRSPLERSLEQKNNPDYNWNVRKT
Sequence length 1828
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy 94 rs397514739, rs1555442889, rs1596427937, rs869312705, rs1596443241, rs1555439036, rs397514740, rs773860345, rs3210462, rs886041628, rs1596429174, rs1555437851, rs398122998, rs1555440885, rs1596456893
View all (46 more)
N/A
Mental retardation intellectual disability rs1555439545 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lennox-Gastaut Syndrome Lennox-Gastaut syndrome N/A N/A GenCC
Myoclonic-Astatic Epilepsy myoclonic-astatic epilepsy N/A N/A GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 34011927
Autism Spectrum Disorder Associate 32887689, 37366052
Autistic Disorder Associate 24768552, 25418537, 31677157
Brain Diseases Associate 23708187, 23934111, 25672921, 29190809, 31677157, 35627293
Carcinoma Hepatocellular Associate 30043858
Colorectal Neoplasms Associate 17390049
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 31914951
Developmental Disabilities Associate 24768552, 28867142
Disease Associate 32887689
Drug Resistant Epilepsy Associate 34979672