KEGG   Homo sapiens (human): 1106
Entry
1106              CDS       T01001                                 
Symbol
CHD2, DEE94, EEOC
Name
(RefSeq) chromodomain helicase DNA binding protein 2
  KO
K20091  chromodomain-helicase-DNA-binding protein 2 [EC:5.6.2.-]
Organism
hsa  Homo sapiens (human)
Disease
H00606  Early infantile epileptic encephalopathy
H02360  Epileptic encephalopathy, childhood-onset
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    1106 (CHD2)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.-
     1106 (CHD2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromatin remodeling factors
   Other chromatin remodeling factors
    1106 (CHD2)
SSDB
Motif
Pfam: SNF2-rel_dom Chromo CDH1_2_SANT_HL1 DUF4208 Helicase_C ResIII
Other DBs
NCBI-GeneID: 1106
NCBI-ProteinID: NP_001262
OMIM: 602119
HGNC: 1917
Ensembl: ENSG00000173575
Pharos: O14647(Tbio)
UniProt: O14647
Position
15:92900324..93027996
AA seq 1828 aa
MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESS
ESQSESESESAGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPS
RFNIKEEASSGSESGSPKRRGQRQLKKQEKWKQEPSEDEQEQGTSAESEPEQKKVKARRP
VPRRTVPKPRVKKQPKTQRGKRKKQDSSDEDDDDDEAPKRQTRRRAAKNVSYKEDDDFET
DSDDLIEMTGEGVDEQQDNSETIEKVLDSRLGKKGATGASTTVYAIEANGDPSGDFDTEK
DEGEIQYLIKWKGWSYIHSTWESEESLQQQKVKGLKKLENFKKKEDEIKQWLGKVSPEDV
EYFNCQQELASELNKQYQIVERVIAVKTSKSTLGQTDFPAHSRKPAPSNEPEYLCKWMGL
PYSECSWEDEALIGKKFQNCIDSFHSRNNSKTIPTRECKALKQRPRFVALKKQPAYLGGE
NLELRDYQLEGLNWLAHSWCKNNSVILADEMGLGKTIQTISFLSYLFHQHQLYGPFLIVV
PLSTLTSWQREFEIWAPEINVVVYIGDLMSRNTIREYEWIHSQTKRLKFNALITTYEILL
KDKTVLGSINWAFLGVDEAHRLKNDDSLLYKTLIDFKSNHRLLITGTPLQNSLKELWSLL
HFIMPEKFEFWEDFEEDHGKGRENGYQSLHKVLEPFLLRRVKKDVEKSLPAKVEQILRVE
MSALQKQYYKWILTRNYKALAKGTRGSTSGFLNIVMELKKCCNHCYLIKPPEENERENGQ
EILLSLIRSSGKLILLDKLLTRLRERGNRVLIFSQMVRMLDILAEYLTIKHYPFQRLDGS
IKGEIRKQALDHFNADGSEDFCFLLSTRAGGLGINLASADTVVIFDSDWNPQNDLQAQAR
AHRIGQKKQVNIYRLVTKGTVEEEIIERAKKKMVLDHLVIQRMDTTGRTILENNSGRSNS
NPFNKEELTAILKFGAEDLFKELEGEESEPQEMDIDEILRLAETRENEVSTSATDELLSQ
FKVANFATMEDEEELEERPHKDWDEIIPEEQRKKVEEEERQKELEEIYMLPRIRSSTKKA
QTNDSDSDTESKRQAQRSSASESETEDSDDDKKPKRRGRPRSVRKDLVEGFTDAEIRRFI
KAYKKFGLPLERLECIARDAELVDKSVADLKRLGELIHNSCVSAMQEYEEQLKENASEGK
GPGKRRGPTIKISGVQVNVKSIIQHEEEFEMLHKSIPVDPEEKKKYCLTCRVKAAHFDVE
WGVEDDSRLLLGIYEHGYGNWELIKTDPELKLTDKILPVETDKKPQGKQLQTRADYLLKL
LRKGLEKKGAVTGGEEAKLKKRKPRVKKENKVPRLKEEHGIELSSPRHSDNPSEEGEVKD
DGLEKSPMKKKQKKKENKENKEKQMSSRKDKEGDKERKKSKDKKEKPKSGDAKSSSKSKR
SQGPVHITAGSEPVPIGEDEDDDLDQETFSICKERMRPVKKALKQLDKPDKGLNVQEQLE
HTRNCLLKIGDRIAECLKAYSDQEHIKLWRRNLWIFVSKFTEFDARKLHKLYKMAHKKRS
QEEEEQKKKDDVTGGKKPFRPEASGSSRDSLISQSHTSHNLHPQKPHLPASHGPQMHGHP
RDNYNHPNKRHFSNADRGDWQRERKFNYGGGNNNPPWGSDRHHQYEQHWYKDHHYGDRRH
MDAHRSGSYRPNNMSRKRPYDQYSSDRDHRGHRDYYDRHHHDSKRRRSDEFRPQNYHQQD
FRRMSDHRPAMGYHGQGPSDHYRSFHTDKLGEYKQPLPPLHPAVSDPRSPPSQKSPHDSK
SPLDHRSPLERSLEQKNNPDYNWNVRKT
NT seq 5487 nt   +upstreamnt  +downstreamnt
atgatgagaaataaggacaaaagccaagaggaggacagttcgctacacagcaatgcatcg
agtcactcagcctctgaagaagcttcgggttcagactcaggcagtcagtcggaaagtgag
cagggaagtgatccaggaagtggacatggcagcgagtcgaacagcagctctgaatcttct
gagagtcagtcggaatctgagagcgaatcagcaggttccaaatcccagccagtcctccca
gaagccaaagagaagccagcctctaagaaggaacggatagctgatgtgaagaagatgtgg
gaagaatatcctgatgtttatggggtcaggcggtcaaaccgaagcagacaagaaccatcg
cgatttaatattaaggaagaggcaagtagcgggtctgagagtgggagcccaaaaagaaga
ggccagaggcagctgaaaaaacaagaaaaatggaaacaggaaccctcagaagatgaacag
gaacaaggcaccagtgcagagagtgagccagaacaaaaaaaagtaaaagccagaagacct
gtccccagaagaacagtgcccaaacctcgtgttaaaaagcagccgaagactcagcgtgga
aagagaaaaaagcaagattcttctgatgaggatgatgatgatgacgaagctcccaaaagg
cagactcgtcgaagagcggctaaaaacgttagttacaaagaagatgatgactttgagact
gactcagatgatctcattgaaatgactggagaaggagttgatgaacagcaagataatagt
gaaactattgaaaaggtcttagattcaagactgggaaagaaaggagccactggagcatct
actactgtatatgcgattgaagctaatggcgaccctagtggtgactttgacactgaaaag
gatgaaggtgaaatccagtacctcatcaagtggaagggttggtcttacatccacagcaca
tgggagagtgaagaatccttacagcaacagaaagtgaagggcctaaaaaaactagagaac
ttcaagaaaaaagaggacgaaatcaaacaatggttagggaaagtttctcctgaagatgta
gaatatttcaattgccaacaggagctggcttcagagttgaataaacagtatcagatagta
gaaagagtaatagctgtgaagacaagtaaatctacattgggtcaaacagattttccagct
catagtcggaagccggcaccctcaaatgagcccgaatatctatgtaaatggatgggactc
ccctattcagagtgtagctgggaagatgaagccctcattggaaagaaattccagaattgc
attgacagcttccacagtaggaacaactcaaaaaccatcccaacaagagaatgcaaggcc
ctgaagcagagaccacgatttgtagctttaaagaaacaacctgcatatttaggaggggag
aatctggaacttcgagattatcagctagaaggtctaaactggctagctcattcctggtgc
aaaaataatagtgtaatccttgctgatgaaatgggcctaggaaagaccatccagaccata
tcattcctctcctacctgttccaccaacaccagctgtatggcccctttcttatagtcgtc
cctttatccaccctcacctcatggcagagagagtttgaaatctgggcaccagagattaac
gtagtggtttacataggtgacctgatgagcagaaatacgatacgggaatatgaatggatt
cattcccaaaccaaaagattgaagttcaacgcacttataacaacatatgagatcctcttg
aaagataagactgtgctgggcagtattaactgggcctttctgggagtggatgaagcccat
cggttgaagaatgatgactctttattgtataaaactctgattgatttcaagtccaaccat
aggctcctgattacggggacccctcttcagaattccctcaaagagctctggtccttgctg
cactttattatgccggagaagtttgaattttgggaagattttgaagaagaccatgggaag
gggagagaaaatggctaccagagtcttcataaggtgctagagcctttccttctccggaga
gtcaaaaaagatgtggagaaatcccttcctgctaaagtggaacagattctcagggtggag
atgtcagcccttcagaaacagtattacaagtggattctgaccaggaattacaaggctctt
gccaaaggaacaagaggcagcacatctggttttcttaatattgtgatggaactgaaaaaa
tgttgcaaccactgctatctgattaaaccccctgaagaaaatgaaagggaaaatggacag
gagattcttctgtccctcataaggagcagtgggaagttgattttattagacaaactgttg
acaagacttcgagaaagggggaatcgagtgcttatcttctctcagatggtgagaatgttg
gatatcctggctgaatacctaactattaaacactatcctttccagcgtctggatggttcc
atcaagggagaaatccgaaaacaggcactggaccacttcaatgcagatgggtctgaggac
ttctgtttcctgctctcgacaagggctggtggcctgggaatcaatttggcttcagcggac
acagtcgtcatctttgactctgactggaacccccagaatgacttgcaggcacaagcccga
gcgcatagaattggtcaaaagaagcaggtaaatatttaccgcttagttacaaaggggact
gtggaggaggagatcatagaacgggccaaaaagaagatggtattagatcatctggtgatt
cagcgcatggacaccactggccggacgatcctggaaaacaactcaggaaggtccaactca
aatccttttaataaagaagagctgacagctattttgaaatttggagcagaggatctcttc
aaagaactggaaggggaggaatcagaacctcaggaaatggatatagatgaaattttgcgg
ttggctgaaacgagagagaatgaagtgtcaacaagtgcaacagatgaacttctatcacag
tttaaggttgccaactttgcaacaatggaagatgaagaagagctagaagagcgtcctcac
aaggactgggatgagatcattccagaggaacaaaggaaaaaagtagaggaggaagagcgg
cagaaggagctagaagaaatttatatgctgcctcgaattcggagttccactaaaaaggct
cagacaaatgacagtgactctgacactgagtctaagaggcaggcccagagatcctctgct
tctgagagtgaaacggaagactctgatgatgacaagaagccaaagcgcagagggcgtccg
aggagtgtgcggaaggacctcgtggagggatttactgatgcagagatccgaaggttcatc
aaggcttataagaagtttggtctccctcttgaacggctggagtgcatagcacgtgatgct
gagctggtagataagtcggtggcagatctgaagcgcctgggtgaactgatccacaacagc
tgtgtgtcagcaatgcaggaatacgaagagcagctgaaagaaaatgccagcgagggaaaa
ggaccagggaaaaggagaggtccaacaatcaagatatccggagttcaggttaatgtgaaa
tccattatccaacatgaagaggagtttgagatgctgcataaatctatccctgtggaccct
gaagaaaaaaaaaaatactgcttaacctgtcgtgtcaaagctgcacattttgatgtagag
tggggggtggaagatgattctcgcctgttgctggggatttatgaacatggctatggaaac
tgggagttaattaaaacagacccagagcttaaattaactgacaaaattctgccggtggag
acagataaaaagcctcaggggaagcagctacagacccgagcggattacttgttgaagctg
ctcagaaagggtctggagaagaagggggctgtgacaggtggggaagaggccaaattaaag
aagcggaagcctcgggtaaagaaggaaaacaaagtgcccaggctgaaagaggagcatgga
attgagctttcatctcctaggcattcagataatccatcagaagagggagaagtgaaagat
gatggcttggaaaaaagtccaatgaaaaaaaaacagaagaagaaagagaacaaggagaac
aaggagaaacaaatgagttctaggaaagacaaagaaggggacaaggaaagaaagaagtca
aaagataagaaagagaagcctaaaagtggtgatgccaaatcttcgagtaaatcaaagcga
tctcagggtcctgtccatattacagcaggaagtgaacctgtccccattggagaggatgag
gatgatgatctggaccaggagacattcagcatatgtaaggagaggatgaggcccgtgaaa
aaggcactgaaacagctcgacaaacctgacaaggggctcaacgtgcaagaacagctggaa
cacacccggaactgcctgctgaaaatcggagaccggatagccgagtgccttaaagcctac
tcagatcaggagcacatcaaactctggaggaggaacctatggatttttgtttccaagttt
acagaatttgatgctcgaaaactgcataagttatacaagatggctcataagaaaaggtct
caagaagaagaggagcaaaagaagaaagacgacgtgactgggggtaagaaaccatttcgt
ccagaggcctcaggctccagccgggactctctgatatctcagtcccatacctcacacaac
cttcaccctcagaagcctcatttgcctgcctcccatggcccacagatgcatggacaccca
agagataactacaatcaccccaacaagagacacttcagtaatgcagatcgaggagactgg
cagagggaaagaaagttcaactatggtggtggcaacaacaatccaccatggggaagcgac
aggcaccatcagtatgagcagcactggtacaaggaccaccattatggggaccggcgacat
atggatgcccaccgttccggaagctatcgacccaacaacatgtccagaaagaggccttat
gaccagtacagcagtgaccgagaccaccggggacacagagattattatgacaggcaccat
catgactccaagcggaggagatccgatgaatttaggcctcaaaattaccaccagcaggat
ttccgacgaatgtctgatcaccgccccgctatgggctaccatggccagggaccctcagac
cattaccgctctttccacacagataaactgggggaatataaacagcctctacccccattg
caccctgcagtctcagatcctcgctcacccccttctcagaaatctcctcacgattccaag
tcacccctggatcataggtctcctttggagagatcactagaacagaaaaacaacccagat
tataactggaatgttcggaaaacataa

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