Property Summary

NCBI Gene PubMed Count 28
Grant Count 6
R01 Count 1
Funding $410,233
PubMed Score 11.07
PubTator Score 53.18

Knowledge Summary

Patent

No data available

Expression

Pathway (1)

Gene RIF (13)

PMID Text
26895424 Results indicate a PARP1-dependent mechanism that regulates non-homologous end-joining through localized chromatin expansion and deposition of the histone variant H3.3 by CHD2 at DNA breaks promoting DNA repair.
26262932 CHD2 mutations are responsible in rare cases for generalized epilepsy with myoclonic-atonic seizures.
26031915 CHD2 is a cancer driver and has a role as chromatin remodeler in chronic lymphocytic leukemia.
25783594 CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome
25672921 The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy with marked photosensitivity.
25384982 Human CHD2 is a chromatin assembly ATPase regulated by its chromatin- and DNA-binding domains.
25297984 CHD1 and CHD2 act as positive regulators of HIV-1 gene expression.
24614520 Our findings suggest that CHD2 mutations are important in the etiological spectrum of Lennox-Gastaut syndrome.
24549219 Genetic variants of BCL2, GNAO1, and CHD2 are associated with non-obstructive azoospermia risk.
24207121 De novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.
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AA Sequence

MMRNKDKSQEEDSSLHSNASSHSASEEASGSDSGSQSESEQGSDPGSGHGSESNSSSESSESQSESESES      1 - 70
AGSKSQPVLPEAKEKPASKKERIADVKKMWEEYPDVYGVRRSNRSRQEPSRFNIKEEASSGSESGSPKRR     71 - 140
GQRQLKKQEKWKQEPSEDEQEQGTSAESEPEQKKVKARRPVPRRTVPKPRVKKQPKTQRGKRKKQDSSDE    141 - 210
DDDDDEAPKRQTRRRAAKNVSYKEDDDFETDSDDLIEMTGEGVDEQQDNSETIEKVLDSRLGKKGATGAS    211 - 280
TTVYAIEANGDPSGDFDTEKDEGEIQYLIKWKGWSYIHSTWESEESLQQQKVKGLKKLENFKKKEDEIKQ    281 - 350
WLGKVSPEDVEYFNCQQELASELNKQYQIVERVIAVKTSKSTLGQTDFPAHSRKPAPSNEPEYLCKWMGL    351 - 420
PYSECSWEDEALIGKKFQNCIDSFHSRNNSKTIPTRECKALKQRPRFVALKKQPAYLGGENLELRDYQLE    421 - 490
GLNWLAHSWCKNNSVILADEMGLGKTIQTISFLSYLFHQHQLYGPFLIVVPLSTLTSWQREFEIWAPEIN    491 - 560
VVVYIGDLMSRNTIREYEWIHSQTKRLKFNALITTYEILLKDKTVLGSINWAFLGVDEAHRLKNDDSLLY    561 - 630
KTLIDFKSNHRLLITGTPLQNSLKELWSLLHFIMPEKFEFWEDFEEDHGKGRENGYQSLHKVLEPFLLRR    631 - 700
VKKDVEKSLPAKVEQILRVEMSALQKQYYKWILTRNYKALAKGTRGSTSGFLNIVMELKKCCNHCYLIKP    701 - 770
PEENERENGQEILLSLIRSSGKLILLDKLLTRLRERGNRVLIFSQMVRMLDILAEYLTIKHYPFQRLDGS    771 - 840
IKGEIRKQALDHFNADGSEDFCFLLSTRAGGLGINLASADTVVIFDSDWNPQNDLQAQARAHRIGQKKQV    841 - 910
NIYRLVTKGTVEEEIIERAKKKMVLDHLVIQRMDTTGRTILENNSGRSNSNPFNKEELTAILKFGAEDLF    911 - 980
KELEGEESEPQEMDIDEILRLAETRENEVSTSATDELLSQFKVANFATMEDEEELEERPHKDWDEIIPEE    981 - 1050
QRKKVEEEERQKELEEIYMLPRIRSSTKKAQTNDSDSDTESKRQAQRSSASESETEDSDDDKKPKRRGRP   1051 - 1120
RSVRKDLVEGFTDAEIRRFIKAYKKFGLPLERLECIARDAELVDKSVADLKRLGELIHNSCVSAMQEYEE   1121 - 1190
QLKENASEGKGPGKRRGPTIKISGVQVNVKSIIQHEEEFEMLHKSIPVDPEEKKKYCLTCRVKAAHFDVE   1191 - 1260
WGVEDDSRLLLGIYEHGYGNWELIKTDPELKLTDKILPVETDKKPQGKQLQTRADYLLKLLRKGLEKKGA   1261 - 1330
VTGGEEAKLKKRKPRVKKENKVPRLKEEHGIELSSPRHSDNPSEEGEVKDDGLEKSPMKKKQKKKENKEN   1331 - 1400
KEKQMSSRKDKEGDKERKKSKDKKEKPKSGDAKSSSKSKRSQGPVHITAGSEPVPIGEDEDDDLDQETFS   1401 - 1470
ICKERMRPVKKALKQLDKPDKGLNVQEQLEHTRNCLLKIGDRIAECLKAYSDQEHIKLWRRNLWIFVSKF   1471 - 1540
TEFDARKLHKLYKMAHKKRSQEEEEQKKKDDVTGGKKPFRPEASGSSRDSLISQSHTSHNLHPQKPHLPA   1541 - 1610
SHGPQMHGHPRDNYNHPNKRHFSNADRGDWQRERKFNYGGGNNNPPWGSDRHHQYEQHWYKDHHYGDRRH   1611 - 1680
MDAHRSGSYRPNNMSRKRPYDQYSSDRDHRGHRDYYDRHHHDSKRRRSDEFRPQNYHQQDFRRMSDHRPA   1681 - 1750
MGYHGQGPSDHYRSFHTDKLGEYKQPLPPLHPAVSDPRSPPSQKSPHDSKSPLDHRSPLERSLEQKNNPD   1751 - 1820
YNWNVRKT                                                                 1821 - 1828
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Text Mined References (35)

PMID Year Title
26895424 2016 PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining.
26262932 2015 CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.
26031915 2015 Mutations in CHD2 cause defective association with active chromatin in chronic lymphocytic leukemia.
25783594 2015 CHD2 variants are a risk factor for photosensitivity in epilepsy.
25672921 2015 CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
25416956 2014 A proteome-scale map of the human interactome network.
25384982 2015 Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains.
25297984 2014 CHD1 and CHD2 are positive regulators of HIV-1 gene expression.
24614520 2014 CHD2 mutations in Lennox-Gastaut syndrome.
24549219 2014 Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk.
More...