LOCUS       NP_001262               1828 aa            linear   PRI 28-APR-2025
DEFINITION  chromodomain-helicase-DNA-binding protein 2 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001262
VERSION     NP_001262.3
DBSOURCE    REFSEQ: accession NM_001271.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1828)
  AUTHORS   You,C., Xu,L., Zhu,L., Qiu,S., Xu,N., Wang,Y. and Yang,L.
  TITLE     Clinical analysis of five CHD2 gene mutations in Chinese children
            with epilepsy
  JOURNAL   Seizure 121, 38-44 (2024)
   PUBMED   39068850
  REMARK    GeneRIF: Clinical analysis of five CHD2 gene mutations in Chinese
            children with epilepsy.
REFERENCE   2  (residues 1 to 1828)
  AUTHORS   Cogliati,F., Straniero,L., Rimoldi,V., Masciadri,M., Perego,S.,
            Rinaldi,B., Milani,D., Gentilini,D., Larizza,L., Asselta,R.,
            Russo,S. and Bedeschi,M.F.
  TITLE     Low-grade parental gonosomal mosaicism in CHD2 siblings with
            Smith-Magenis-like syndrome
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 195 (6), e32976 (2024)
   PUBMED   38385826
  REMARK    GeneRIF: Low-grade parental gonosomal mosaicism in CHD2 siblings
            with Smith-Magenis-like syndrome.
REFERENCE   3  (residues 1 to 1828)
  AUTHORS   LaFlamme,C.W., Rastin,C., Sengupta,S., Pennington,H.E.,
            Russ-Hall,S.J., Schneider,A.L., Bonkowski,E.S., Almanza
            Fuerte,E.P., Allan,T.J., Zalusky,M.P., Goffena,J., Gibson,S.B.,
            Nyaga,D.M., Lieffering,N., Hebbar,M., Walker,E.V., Darnell,D.,
            Olsen,S.R., Kolekar,P., Djekidel,M.N., Rosikiewicz,W., McConkey,H.,
            Kerkhof,J., Levy,M.A., Relator,R., Lev,D., Lerman-Sagie,T.,
            Park,K.L., Alders,M., Cappuccio,G., Chatron,N., Demain,L.,
            Genevieve,D., Lesca,G., Roscioli,T., Sanlaville,D., Tedder,M.L.,
            Gupta,S., Jones,E.A., Weisz-Hubshman,M., Ketkar,S., Dai,H.,
            Worley,K.C., Rosenfeld,J.A., Chao,H.T., Neale,G., Carvill,G.L.,
            Wang,Z., Berkovic,S.F., Sadleir,L.G., Miller,D.E., Scheffer,I.E.,
            Sadikovic,B. and Mefford,H.C.
  CONSRTM   Undiagnosed Diseases Network; University of Washington Center for
            Rare Disease Research
  TITLE     Diagnostic utility of DNA methylation analysis in genetically
            unsolved pediatric epilepsies and CHD2 episignature refinement
  JOURNAL   Nat Commun 15 (1), 6524 (2024)
   PUBMED   39107278
  REMARK    GeneRIF: Diagnostic utility of DNA methylation analysis in
            genetically unsolved pediatric epilepsies and CHD2 episignature
            refinement.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1828)
  AUTHORS   Bao,Y., Wu,L., Liu,Y., Fan,C., Zhang,J. and Yang,J.
  TITLE     Role of CircCHD2 in the pathogenesis of gestational diabetes
            mellitus by regulating autophagy via miR-33b-3p/ULK1 axis
  JOURNAL   Placenta 145, 27-37 (2024)
   PUBMED   38039841
  REMARK    GeneRIF: Role of CircCHD2 in the pathogenesis of gestational
            diabetes mellitus by regulating autophagy via miR-33b-3p/ULK1 axis.
REFERENCE   5  (residues 1 to 1828)
  AUTHORS   Hu,P., Guo,J., Zhao,B., Zhang,Z., Zhu,J. and Liu,F.
  TITLE     CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis
  JOURNAL   J Environ Pathol Toxicol Oncol 41 (4), 1-10 (2022)
   PUBMED   36374958
  REMARK    GeneRIF: CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis.
REFERENCE   6  (residues 1 to 1828)
  AUTHORS   Zody,M.C., Garber,M., Sharpe,T., Young,S.K., Rowen,L., O'Neill,K.,
            Whittaker,C.A., Kamal,M., Chang,J.L., Cuomo,C.A., Dewar,K.,
            FitzGerald,M.G., Kodira,C.D., Madan,A., Qin,S., Yang,X., Abbasi,N.,
            Abouelleil,A., Arachchi,H.M., Baradarani,L., Birditt,B., Bloom,S.,
            Bloom,T., Borowsky,M.L., Burke,J., Butler,J., Cook,A.,
            DeArellano,K., DeCaprio,D., Dorris,L. 3rd, Dors,M., Eichler,E.E.,
            Engels,R., Fahey,J., Fleetwood,P., Friedman,C., Gearin,G.,
            Hall,J.L., Hensley,G., Johnson,E., Jones,C., Kamat,A., Kaur,A.,
            Locke,D.P., Madan,A., Munson,G., Jaffe,D.B., Lui,A., Macdonald,P.,
            Mauceli,E., Naylor,J.W., Nesbitt,R., Nicol,R., O'Leary,S.B.,
            Ratcliffe,A., Rounsley,S., She,X., Sneddon,K.M., Stewart,S.,
            Sougnez,C., Stone,S.M., Topham,K., Vincent,D., Wang,S.,
            Zimmer,A.R., Birren,B.W., Hood,L., Lander,E.S. and Nusbaum,C.
  TITLE     Analysis of the DNA sequence and duplication history of human
            chromosome 15
  JOURNAL   Nature 440 (7084), 671-675 (2006)
   PUBMED   16572171
REFERENCE   7  (residues 1 to 1828)
  AUTHORS   Hiller,M., Huse,K., Platzer,M. and Backofen,R.
  TITLE     Non-EST based prediction of exon skipping and intron retention
            events using Pfam information
  JOURNAL   Nucleic Acids Res 33 (17), 5611-5621 (2005)
   PUBMED   16204458
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 1828)
  AUTHORS   Johnson,J.M., Castle,J., Garrett-Engele,P., Kan,Z., Loerch,P.M.,
            Armour,C.D., Santos,R., Schadt,E.E., Stoughton,R. and
            Shoemaker,D.D.
  TITLE     Genome-wide survey of human alternative pre-mRNA splicing with exon
            junction microarrays
  JOURNAL   Science 302 (5653), 2141-2144 (2003)
   PUBMED   14684825
REFERENCE   9  (residues 1 to 1828)
  AUTHORS   Woodage,T., Basrai,M.A., Baxevanis,A.D., Hieter,P. and Collins,F.S.
  TITLE     Characterization of the CHD family of proteins
  JOURNAL   Proc Natl Acad Sci U S A 94 (21), 11472-11477 (1997)
   PUBMED   9326634
REFERENCE   10 (residues 1 to 1828)
  AUTHORS   Carvill,G.L. and Mefford,H.C.
  TITLE     CHD2-Related Neurodevelopmental Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26677509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF006514.1, DB121252.1,
            AC013394.12, DB111282.1, CT003638.1 and AA907775.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 28, 2006 this sequence version replaced NP_001262.2.
            
            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 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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394196.9/ ENSP00000377747.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1828
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..1828
                     /product="chromodomain-helicase-DNA-binding protein 2
                     isoform 1"
                     /EC_number="3.6.4.12"
                     /note="CHD-2; ATP-dependent helicase CHD2"
                     /calculated_mol_wt=211213
     Region          1..243
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Site            207
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Site            208
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Site            240
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O14647.2)"
     Site            242
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O14647.2)"
     Region          259..343
                     /region_name="CD1_tandem_CHD1-2_like"
                     /note="repeat 1 of the paired tandem chromodomains of
                     chromodomain helicase DNA-binding protein 1 and 2, and
                     similar proteins; cd18666"
                     /db_xref="CDD:349313"
     Site            order(261,311,313..314,318)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:349313"
     Region          376..447
                     /region_name="CD2_tandem_CHD1-2_like"
                     /note="repeat 2 of the paired tandem chromodomains of
                     chromodomain helicase DNA-binding protein 1 and 2, and
                     similar proteins; cd18661"
                     /db_xref="CDD:349308"
     Site            order(412,429)
                     /site_type="other"
                     /note="peptide binding site [polypeptide binding]"
                     /db_xref="CDD:349308"
     Region          464..700
                     /region_name="DEXHc_CHD2"
                     /note="DEAH-box helicase domain of the chromodomain
                     helicase DNA binding protein 2; cd18054"
                     /db_xref="CDD:350812"
     Region          468..>1021
                     /region_name="PLN03142"
                     /note="Probable chromatin-remodeling complex ATPase chain;
                     Provisional"
                     /db_xref="CDD:215601"
     Site            order(511..517,551,617..618)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:350812"
     Region          617..620
                     /region_name="DEAH box"
                     /note="propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Region          1030..1124
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Site            1085
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O14647.2)"
     Site            1087
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O14647.2)"
     Region          1130..1218
                     /region_name="CDH1_2_SANT_HL1"
                     /note="CDH1/2 SANT-Helical linker 1; pfam18375"
                     /db_xref="CDD:465731"
     Region          1331..1462
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Site            1365
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14647.2)"
     Site            1386
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14647.2)"
     Region          1464..1566
                     /region_name="CHD1 helical C-terminal domain (CHCT).
                     /evidence=ECO:0000250|UniProtKB:O14646"
                     /note="propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Region          1471..1553
                     /region_name="DUF4208"
                     /note="Domain of unknown function (DUF4208); pfam13907"
                     /db_xref="CDD:464035"
     Region          1556..1638
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Region          1680..1828
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O14647.2)"
     Site            1807
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (O14647.2)"
     CDS             1..1828
                     /gene="CHD2"
                     /gene_synonym="DEE94; EEOC"
                     /coded_by="NM_001271.4:573..6059"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10374.2"
                     /db_xref="GeneID:1106"
                     /db_xref="HGNC:HGNC:1917"
                     /db_xref="MIM:602119"
ORIGIN      
        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
//
