• Gene id: 1106

Gene Summary

• Gene Symbol: CHD2   Gene   UCSC   Ensembl
• Aliases: EEOC
• Gene name: chromodomain helicase DNA binding protein 2
• Alternate names: chromodomain-helicase-DNA-binding protein 2, ATP-dependent helicase CHD2, CHD-2,
• Gene location: 15q26.1 (56191338: 56357443)     Exons: 12     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 602119

SNPs

rs1406714

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.92918141C>A
NC_000015.10   g.92918141C>G
NC_000015.10   g.92918141C>T
NC_000015.9   g.93461371C>A
NC_000015.9   g.93461371C>G
NC_000015.9   g.93461371C>T
NG_012826.2   g.22821C>A
NG_012826.2   g.22821C>G
NG_012826.2   g.22821C>T
NG_012826.1   g.22821C>A

Protein Summary

• Protein general information: O14647  
  • Name: Chromodomain helicase DNA binding protein 2 (CHD 2) (EC 3.6.4.12) (ATP dependent helicase CHD2)
  • Length: 1828  
  • Mass: 211,344
• Sequence:

  MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESESAGSKS
  QPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRRGQRQLKKQEK
  WKQEPSEDEQEQGTSAESEPEQKKVKARRPVPRRTVPKPRVKKQPKTQRGKRKKQDSSDEDDDDDEAPKRQTRRR
  AAKNVSYKEDDDFETDSDDLIEMTGEGVDEQQDNSETIEKVLDSRLGKKGATGASTTVYAIEANGDPSGDFDTEK
  DEGEIQYLIKWKGWSYIHSTWESEESLQQQKVKGLKKLENFKKKEDEIKQWLGKVSPEDVEYFNCQQELASELNK
  QYQIVERVIAVKTSKSTLGQTDFPAHSRKPAPSNEPEYLCKWMGLPYSECSWEDEALIGKKFQNCIDSFHSRNNS
  KTIPTRECKALKQRPRFVALKKQPAYLGGENLELRDYQLEGLNWLAHSWCKNNSVILADEMGLGKTIQTISFLSY
  LFHQHQLYGPFLIVVPLSTLTSWQREFEIWAPEINVVVYIGDLMSRNTIREYEWIHSQTKRLKFNALITTYEILL
  KDKTVLGSINWAFLGVDEAHRLKNDDSLLYKTLIDFKSNHRLLITGTPLQNSLKELWSLLHFIMPEKFEFWEDFE
  EDHGKGRENGYQSLHKVLEPFLLRRVKKDVEKSLPAKVEQILRVEMSALQKQYYKWILTRNYKALAKGTRGSTSG
  FLNIVMELKKCCNHCYLIKPPEENERENGQEILLSLIRSSGKLILLDKLLTRLRERGNRVLIFSQMVRMLDILAE
  YLTIKHYPFQRLDGSIKGEIRKQALDHFNADGSEDFCFLLSTRAGGLGINLASADTVVIFDSDWNPQNDLQAQAR
  AHRIGQKKQVNIYRLVTKGTVEEEIIERAKKKMVLDHLVIQRMDTTGRTILENNSGRSNSNPFNKEELTAILKFG
  AEDLFKELEGEESEPQEMDIDEILRLAETRENEVSTSATDELLSQFKVANFATMEDEEELEERPHKDWDEIIPEE
  QRKKVEEEERQKELEEIYMLPRIRSSTKKAQTNDSDSDTESKRQAQRSSASESETEDSDDDKKPKRRGRPRSVRK
  DLVEGFTDAEIRRFIKAYKKFGLPLERLECIARDAELVDKSVADLKRLGELIHNSCVSAMQEYEEQLKENASEGK
  GPGKRRGPTIKISGVQVNVKSIIQHEEEFEMLHKSIPVDPEEKKKYCLTCRVKAAHFDVEWGVEDDSRLLLGIYE
  HGYGNWELIKTDPELKLTDKILPVETDKKPQGKQLQTRADYLLKLLRKGLEKKGAVTGGEEAKLKKRKPRVKKEN
  KVPRLKEEHGIELSSPRHSDNPSEEGEVKDDGLEKSPMKKKQKKKENKENKEKQMSSRKDKEGDKERKKSKDKKE
  KPKSGDAKSSSKSKRSQGPVHITAGSEPVPIGEDEDDDLDQETFSICKERMRPVKKALKQLDKPDKGLNVQEQLE
  HTRNCLLKIGDRIAECLKAYSDQEHIKLWRRNLWIFVSKFTEFDARKLHKLYKMAHKKRSQEEEEQKKKDDVTGG
  KKPFRPEASGSSRDSLISQSHTSHNLHPQKPHLPASHGPQMHGHPRDNYNHPNKRHFSNADRGDWQRERKFNYGG
  GNNNPPWGSDRHHQYEQHWYKDHHYGDRRHMDAHRSGSYRPNNMSRKRPYDQYSSDRDHRGHRDYYDRHHHDSKR
  RRSDEFRPQNYHQQDFRRMSDHRPAMGYHGQGPSDHYRSFHTDKLGEYKQPLPPLHPAVSDPRSPPSQKSPHDSK
  SPLDHRSPLERSLEQKNNPDYNWNVRKT

• Structural information:
  • Protein Domains: Chromo (261-353)
    Chromo (378-456)
    Helicase (496-666)
    Helicase (795-946)
  • Interpro: IPR016197  IPR000953  IPR023780  IPR023779  IPR025260   IPR014001  IPR001650  IPR027417  IPR000330  
  • Prosite: PS00598 PS50013 PS51192 PS51194
  • CDD: cd00024 cd00079
  • STRING: ENSP00000377747
• Other Databases: GeneCards:  CHD2  Malacards:  CHD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001046	core promoter sequence-specific DNA binding	ISS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0004003	ATP-dependent DNA helicase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007517	muscle organ development	ISS	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0042393	histone binding	ISS	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0060218	hematopoietic stem cell differentiation	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001046	core promoter sequence-specific DNA binding	IEA	molecular function
GO:0001046	core promoter sequence-specific DNA binding	IEA	molecular function
GO:0001046	core promoter sequence-specific DNA binding	ISS	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0004003	ATP-dependent DNA helicase activity	TAS	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0007517	muscle organ development	ISS	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0042393	histone binding	ISS	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0060218	hematopoietic stem cell differentiation	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0001046	core promoter sequence-specific DNA binding	ISS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0004003	ATP-dependent DNA helicase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0007517	muscle organ development	ISS	biological process
GO:0042393	histone binding	ISS	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Lennox-Gastaut syndrome	KEGG: H01813
Non obstructive azoospermia	MIK: 24549219
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
non-obstructive azoospermia (NOA)	MIK: 24549219
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24549219	non-obstructive azoospermia (NOA)	rs1406714 in CHD2, rs2126986 in GNAO1, rs7226979 in BCL2		3982 (1653 NOA cases, 2329 controls)	Male infertility	CHD2 GNAO1 and BCL2
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881