Gene Gene information from NCBI Gene database.
Entrez ID 1106
Gene name Chromodomain helicase DNA binding protein 2
Gene symbol CHD2
Synonyms (NCBI Gene)
DEE94EEOC
Chromosome 15
Chromosome location 15q26.1
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
SNPs SNP information provided by dbSNP.
105
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.
703
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602119 1917 ENSG00000173575
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
47
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Pathogenic rs2505447123 RCV003127238
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior Pathogenic rs749969667 RCV001251208
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHD2-related disorder Pathogenic; Likely pathogenic rs749969667, rs864309547, rs2505446613, rs772889877, rs1567149946, rs1555445685, rs752940775 RCV000845032
RCV004530209
RCV004527842
RCV004528045
RCV004534429
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complex neurodevelopmental disorder Pathogenic; Likely pathogenic rs749969667, rs1567149946, rs2053779726, rs2053970405 RCV001265377
RCV001265452
RCV001265376
RCV001265454
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations