CHD2

Protein identityUniProt · HPA

UniProt accession

O14647

Gene

CHD2

Ensembl

ENSG00000173575

Chromosome

15

Canonical length

1828 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI 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 of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1828 residues, UniProt reviewed canonical sequence.

>O14647|CHD2
     1  MMRNKDKSQE EDSSLHSNAS SHSASEEASG SDSGSQSESE QGSDPGSGHG SESNSSSESS
    61  ESQSESESES AGSKSQPVLP EAKEKPASKK ERIADVKKMW EEYPDVYGVR RSNRSRQEPS
   121  RFNIKEEASS GSESGSPKRR GQRQLKKQEK WKQEPSEDEQ EQGTSAESEP EQKKVKARRP
   181  VPRRTVPKPR VKKQPKTQRG KRKKQDSSDE DDDDDEAPKR QTRRRAAKNV SYKEDDDFET
   241  DSDDLIEMTG EGVDEQQDNS ETIEKVLDSR LGKKGATGAS TTVYAIEANG DPSGDFDTEK
   301  DEGEIQYLIK WKGWSYIHST WESEESLQQQ KVKGLKKLEN FKKKEDEIKQ WLGKVSPEDV
   361  EYFNCQQELA SELNKQYQIV ERVIAVKTSK STLGQTDFPA HSRKPAPSNE PEYLCKWMGL
   421  PYSECSWEDE ALIGKKFQNC IDSFHSRNNS KTIPTRECKA LKQRPRFVAL KKQPAYLGGE
   481  NLELRDYQLE GLNWLAHSWC KNNSVILADE MGLGKTIQTI SFLSYLFHQH QLYGPFLIVV
   541  PLSTLTSWQR EFEIWAPEIN VVVYIGDLMS RNTIREYEWI HSQTKRLKFN ALITTYEILL
   601  KDKTVLGSIN WAFLGVDEAH RLKNDDSLLY KTLIDFKSNH RLLITGTPLQ NSLKELWSLL
   661  HFIMPEKFEF WEDFEEDHGK GRENGYQSLH KVLEPFLLRR VKKDVEKSLP AKVEQILRVE
   721  MSALQKQYYK WILTRNYKAL AKGTRGSTSG FLNIVMELKK CCNHCYLIKP PEENERENGQ
   781  EILLSLIRSS GKLILLDKLL TRLRERGNRV LIFSQMVRML DILAEYLTIK HYPFQRLDGS
   841  IKGEIRKQAL DHFNADGSED FCFLLSTRAG GLGINLASAD TVVIFDSDWN PQNDLQAQAR
   901  AHRIGQKKQV NIYRLVTKGT VEEEIIERAK KKMVLDHLVI QRMDTTGRTI LENNSGRSNS
   961  NPFNKEELTA ILKFGAEDLF KELEGEESEP QEMDIDEILR LAETRENEVS TSATDELLSQ
  1021  FKVANFATME DEEELEERPH KDWDEIIPEE QRKKVEEEER QKELEEIYML PRIRSSTKKA
  1081  QTNDSDSDTE SKRQAQRSSA SESETEDSDD DKKPKRRGRP RSVRKDLVEG FTDAEIRRFI
  1141  KAYKKFGLPL ERLECIARDA ELVDKSVADL KRLGELIHNS CVSAMQEYEE QLKENASEGK
  1201  GPGKRRGPTI KISGVQVNVK SIIQHEEEFE MLHKSIPVDP EEKKKYCLTC RVKAAHFDVE
  1261  WGVEDDSRLL LGIYEHGYGN WELIKTDPEL KLTDKILPVE TDKKPQGKQL QTRADYLLKL
  1321  LRKGLEKKGA VTGGEEAKLK KRKPRVKKEN KVPRLKEEHG IELSSPRHSD NPSEEGEVKD
  1381  DGLEKSPMKK KQKKKENKEN KEKQMSSRKD KEGDKERKKS KDKKEKPKSG DAKSSSKSKR
  1441  SQGPVHITAG SEPVPIGEDE DDDLDQETFS ICKERMRPVK KALKQLDKPD KGLNVQEQLE
  1501  HTRNCLLKIG DRIAECLKAY SDQEHIKLWR RNLWIFVSKF TEFDARKLHK LYKMAHKKRS
  1561  QEEEEQKKKD DVTGGKKPFR PEASGSSRDS LISQSHTSHN LHPQKPHLPA SHGPQMHGHP
  1621  RDNYNHPNKR HFSNADRGDW QRERKFNYGG GNNNPPWGSD RHHQYEQHWY KDHHYGDRRH
  1681  MDAHRSGSYR PNNMSRKRPY DQYSSDRDHR GHRDYYDRHH HDSKRRRSDE FRPQNYHQQD
  1741  FRRMSDHRPA MGYHGQGPSD HYRSFHTDKL GEYKQPLPPL HPAVSDPRSP PSQKSPHDSK
  1801  SPLDHRSPLE RSLEQKNNPD YNWNVRKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

65 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHD2.

Disease | AllUniProt

Conditions CHD2 is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 94 (DEE94) MIM:615369

Disease | GeneticClinVar

372 pathogenic / likely-pathogenic of 2,539 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy 94
• Inborn genetic diseases
• Intellectual disability
• CHD2-related disorder
• Seizure

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.07

gnomAD pLI

1

gnomAD missense Z

5.21

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• DNA damage response
• gene expression
• hematopoietic stem cell differentiation
• muscle organ development
• nucleosome organization

Molecular functions

• ATP binding
• ATP hydrolysis activity
• ATP-dependent chromatin remodeler activity
• chromatin binding
• DNA binding
• histone binding
• RNA binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• SNF2, N-terminal domain
• Chromo/chromo shadow domain
• Helicase, C-terminal domain-like
• Helicase superfamily 1/2, ATP-binding domain
• Chromo-like domain superfamily
• Chromo domain, conserved site
• Chromo domain
• Chromodomain-helicase-DNA-binding protein 1-like, C-terminal domain
• P-loop containing nucleoside triphosphate hydrolase
• SNF2-like, N-terminal domain superfamily
• CDH1/2, SANT-Helical linker 1
• SNF2/RAD5-like, C-terminal helicase domain
• ATP-dependent helicase CHD1-2/hrp3, HTH domain
• SNF2-related domain
• Helicase conserved C-terminal domain
• Chromo (CHRromatin Organisation MOdifier) domain
• Chromodomain-helicase-DNA-binding protein 1-like, C-terminal
• CDH1/2 SANT-Helical linker 1
• ATP-dependent helicase CHD1-2/hrp3 HTH domain

KeywordsUniProt

• ATP-binding
• Chromatin regulator
• DNA-binding
• Epilepsy
• Hydrolase
• Myogenesis
• Nucleotide-binding
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of CHD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MYOD1