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O14647

- CHD2_HUMAN

UniProt

O14647 - CHD2_HUMAN

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Protein
Chromodomain-helicase-DNA-binding protein 2
Gene
CHD2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression By similarity.

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi509 – 5168ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ATP-dependent DNA helicase activity Source: ProtInc
  3. DNA binding Source: ProtInc
  4. core promoter sequence-specific DNA binding Source: UniProtKB
  5. histone binding Source: UniProtKB
  6. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. DNA duplex unwinding Source: GOC
  2. cellular response to DNA damage stimulus Source: Ensembl
  3. chromatin modification Source: UniProtKB-KW
  4. hematopoietic stem cell differentiation Source: Ensembl
  5. muscle organ development Source: UniProtKB
  6. regulation of transcription from RNA polymerase II promoter Source: ProtInc
  7. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Helicase, Hydrolase

Keywords - Biological processi

Myogenesis, Transcription, Transcription regulation

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 2 (EC:3.6.4.12)
Short name:
CHD-2
Alternative name(s):
ATP-dependent helicase CHD2
Gene namesi
Name:CHD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:1917. CHD2.

Subcellular locationi

Nucleus By similarity
Note: Binds to myogenic gene promoters By similarity.

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, childhood-onset (EEOC) [MIM:615369]: A severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti548 – 5481W → R in EEOC. 1 Publication
VAR_070209
Natural varianti823 – 8231L → P in EEOC. 1 Publication
VAR_070210

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi615369. phenotype.
Orphaneti1942. Epilepsy with myoclonic-astatic seizures.
2382. Lennox-Gastaut syndrome.
PharmGKBiPA26453.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 18281828Chromodomain-helicase-DNA-binding protein 2
PRO_0000080226Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei207 – 2071Phosphoserine2 Publications
Modified residuei208 – 2081Phosphoserine2 Publications
Modified residuei240 – 2401Phosphothreonine2 Publications
Modified residuei242 – 2421Phosphoserine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO14647.
PaxDbiO14647.
PRIDEiO14647.

PTM databases

PhosphoSiteiO14647.

Expressioni

Gene expression databases

ArrayExpressiO14647.
BgeeiO14647.
CleanExiHS_CHD2.
GenevestigatoriO14647.

Organism-specific databases

HPAiHPA053875.
HPA060744.
HPA060960.

Interactioni

Subunit structurei

Interacts with MYOD1. Interacts with histone H3.3 By similarity.

Protein-protein interaction databases

BioGridi107531. 7 interactions.
IntActiO14647. 6 interactions.
STRINGi9606.ENSP00000377747.

Structurei

3D structure databases

ProteinModelPortaliO14647.
SMRiO14647. Positions 261-446, 1129-1334.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini261 – 35393Chromo 1
Add
BLAST
Domaini378 – 45679Chromo 2
Add
BLAST
Domaini496 – 666171Helicase ATP-binding
Add
BLAST
Domaini795 – 946152Helicase C-terminal
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi617 – 6204DEAH box

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi13 – 7462Ser-rich
Add
BLAST
Compositional biasi121 – 13919Ser-rich
Add
BLAST
Compositional biasi966 – 1066101Glu-rich
Add
BLAST

Sequence similaritiesi

Contains 2 chromo domains.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG0553.
HOGENOMiHOG000207917.
HOVERGENiHBG005325.
InParanoidiO14647.
KOiK11367.
OMAiKRPYEQY.
OrthoDBiEOG7NPFSB.
PhylomeDBiO14647.
TreeFamiTF313461.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR023779. Chromodomain_CS.
IPR025260. DUF4208.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00385. Chromo. 2 hits.
PF13907. DUF4208. 1 hit.
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00298. CHROMO. 2 hits.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF54160. SSF54160. 2 hits.
PROSITEiPS00598. CHROMO_1. 2 hits.
PS50013. CHROMO_2. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O14647-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MMRNKDKSQE EDSSLHSNAS SHSASEEASG SDSGSQSESE QGSDPGSGHG     50
SESNSSSESS ESQSESESES AGSKSQPVLP EAKEKPASKK ERIADVKKMW 100
EEYPDVYGVR RSNRSRQEPS RFNIKEEASS GSESGSPKRR GQRQLKKQEK 150
WKQEPSEDEQ EQGTSAESEP EQKKVKARRP VPRRTVPKPR VKKQPKTQRG 200
KRKKQDSSDE DDDDDEAPKR QTRRRAAKNV SYKEDDDFET DSDDLIEMTG 250
EGVDEQQDNS ETIEKVLDSR LGKKGATGAS TTVYAIEANG DPSGDFDTEK 300
DEGEIQYLIK WKGWSYIHST WESEESLQQQ KVKGLKKLEN FKKKEDEIKQ 350
WLGKVSPEDV EYFNCQQELA SELNKQYQIV ERVIAVKTSK STLGQTDFPA 400
HSRKPAPSNE PEYLCKWMGL PYSECSWEDE ALIGKKFQNC IDSFHSRNNS 450
KTIPTRECKA LKQRPRFVAL KKQPAYLGGE NLELRDYQLE GLNWLAHSWC 500
KNNSVILADE MGLGKTIQTI SFLSYLFHQH QLYGPFLIVV PLSTLTSWQR 550
EFEIWAPEIN VVVYIGDLMS RNTIREYEWI HSQTKRLKFN ALITTYEILL 600
KDKTVLGSIN WAFLGVDEAH RLKNDDSLLY KTLIDFKSNH RLLITGTPLQ 650
NSLKELWSLL HFIMPEKFEF WEDFEEDHGK GRENGYQSLH KVLEPFLLRR 700
VKKDVEKSLP AKVEQILRVE MSALQKQYYK WILTRNYKAL AKGTRGSTSG 750
FLNIVMELKK CCNHCYLIKP PEENERENGQ EILLSLIRSS GKLILLDKLL 800
TRLRERGNRV LIFSQMVRML DILAEYLTIK HYPFQRLDGS IKGEIRKQAL 850
DHFNADGSED FCFLLSTRAG GLGINLASAD TVVIFDSDWN PQNDLQAQAR 900
AHRIGQKKQV NIYRLVTKGT VEEEIIERAK KKMVLDHLVI QRMDTTGRTI 950
LENNSGRSNS NPFNKEELTA ILKFGAEDLF KELEGEESEP QEMDIDEILR 1000
LAETRENEVS TSATDELLSQ FKVANFATME DEEELEERPH KDWDEIIPEE 1050
QRKKVEEEER QKELEEIYML PRIRSSTKKA QTNDSDSDTE SKRQAQRSSA 1100
SESETEDSDD DKKPKRRGRP RSVRKDLVEG FTDAEIRRFI KAYKKFGLPL 1150
ERLECIARDA ELVDKSVADL KRLGELIHNS CVSAMQEYEE QLKENASEGK 1200
GPGKRRGPTI KISGVQVNVK SIIQHEEEFE MLHKSIPVDP EEKKKYCLTC 1250
RVKAAHFDVE WGVEDDSRLL LGIYEHGYGN WELIKTDPEL KLTDKILPVE 1300
TDKKPQGKQL QTRADYLLKL LRKGLEKKGA VTGGEEAKLK KRKPRVKKEN 1350
KVPRLKEEHG IELSSPRHSD NPSEEGEVKD DGLEKSPMKK KQKKKENKEN 1400
KEKQMSSRKD KEGDKERKKS KDKKEKPKSG DAKSSSKSKR SQGPVHITAG 1450
SEPVPIGEDE DDDLDQETFS ICKERMRPVK KALKQLDKPD KGLNVQEQLE 1500
HTRNCLLKIG DRIAECLKAY SDQEHIKLWR RNLWIFVSKF TEFDARKLHK 1550
LYKMAHKKRS QEEEEQKKKD DVTGGKKPFR PEASGSSRDS LISQSHTSHN 1600
LHPQKPHLPA SHGPQMHGHP RDNYNHPNKR HFSNADRGDW QRERKFNYGG 1650
GNNNPPWGSD RHHQYEQHWY KDHHYGDRRH MDAHRSGSYR PNNMSRKRPY 1700
DQYSSDRDHR GHRDYYDRHH HDSKRRRSDE FRPQNYHQQD FRRMSDHRPA 1750
MGYHGQGPSD HYRSFHTDKL GEYKQPLPPL HPAVSDPRSP PSQKSPHDSK 1800
SPLDHRSPLE RSLEQKNNPD YNWNVRKT 1828
Length:1,828
Mass (Da):211,344
Last modified:December 12, 2006 - v2
Checksum:i13139D6059210F00
GO
Isoform 2 (identifier: O14647-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1719-1739: HHHDSKRRRSDEFRPQNYHQQ → YAKGCETPGANLCQELFLGRK
     1740-1828: Missing.

Note: No experimental confirmation available.

Show »
Length:1,739
Mass (Da):200,562
Checksum:i934528063B1A950E
GO
Isoform 3 (identifier: O14647-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     502-1828: Missing.

Show »
Length:501
Mass (Da):56,826
Checksum:i14320F994CE72BF1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti548 – 5481W → R in EEOC. 1 Publication
VAR_070209
Natural varianti823 – 8231L → P in EEOC. 1 Publication
VAR_070210
Natural varianti1574 – 15741G → A.
Corresponds to variant rs56227200 [ dbSNP | Ensembl ].
VAR_061099

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei502 – 18281327Missing in isoform 3.
VSP_042791Add
BLAST
Alternative sequencei1719 – 173921HHHDS…NYHQQ → YAKGCETPGANLCQELFLGR K in isoform 2.
VSP_021918Add
BLAST
Alternative sequencei1740 – 182889Missing in isoform 2.
VSP_021919Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1156 – 11561I → L in AAB87382. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF006514 mRNA. Translation: AAB87382.1.
BT007050 mRNA. Translation: AAP35699.1.
FJ515838 Genomic DNA. Translation: ACS13730.1.
AC013394 Genomic DNA. No translation available.
CH471101 Genomic DNA. Translation: EAX02160.1.
BC007347 mRNA. Translation: AAH07347.1.
CR978407 mRNA. No translation available.
CCDSiCCDS10374.2. [O14647-1]
CCDS45356.1. [O14647-3]
RefSeqiNP_001036037.1. NM_001042572.2. [O14647-3]
NP_001262.3. NM_001271.3. [O14647-1]
UniGeneiHs.220864.

Genome annotation databases

EnsembliENST00000394196; ENSP00000377747; ENSG00000173575. [O14647-1]
ENST00000420239; ENSP00000406581; ENSG00000173575. [O14647-3]
ENST00000557381; ENSP00000451366; ENSG00000173575. [O14647-2]
GeneIDi1106.
KEGGihsa:1106.
UCSCiuc002bsn.3. human. [O14647-3]
uc002bso.1. human. [O14647-2]
uc002bsp.3. human. [O14647-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF006514 mRNA. Translation: AAB87382.1 .
BT007050 mRNA. Translation: AAP35699.1 .
FJ515838 Genomic DNA. Translation: ACS13730.1 .
AC013394 Genomic DNA. No translation available.
CH471101 Genomic DNA. Translation: EAX02160.1 .
BC007347 mRNA. Translation: AAH07347.1 .
CR978407 mRNA. No translation available.
CCDSi CCDS10374.2. [O14647-1 ]
CCDS45356.1. [O14647-3 ]
RefSeqi NP_001036037.1. NM_001042572.2. [O14647-3 ]
NP_001262.3. NM_001271.3. [O14647-1 ]
UniGenei Hs.220864.

3D structure databases

ProteinModelPortali O14647.
SMRi O14647. Positions 261-446, 1129-1334.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107531. 7 interactions.
IntActi O14647. 6 interactions.
STRINGi 9606.ENSP00000377747.

PTM databases

PhosphoSitei O14647.

Proteomic databases

MaxQBi O14647.
PaxDbi O14647.
PRIDEi O14647.

Protocols and materials databases

DNASUi 1106.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000394196 ; ENSP00000377747 ; ENSG00000173575 . [O14647-1 ]
ENST00000420239 ; ENSP00000406581 ; ENSG00000173575 . [O14647-3 ]
ENST00000557381 ; ENSP00000451366 ; ENSG00000173575 . [O14647-2 ]
GeneIDi 1106.
KEGGi hsa:1106.
UCSCi uc002bsn.3. human. [O14647-3 ]
uc002bso.1. human. [O14647-2 ]
uc002bsp.3. human. [O14647-1 ]

Organism-specific databases

CTDi 1106.
GeneCardsi GC15P094240.
HGNCi HGNC:1917. CHD2.
HPAi HPA053875.
HPA060744.
HPA060960.
MIMi 602119. gene.
615369. phenotype.
neXtProti NX_O14647.
Orphaneti 1942. Epilepsy with myoclonic-astatic seizures.
2382. Lennox-Gastaut syndrome.
PharmGKBi PA26453.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0553.
HOGENOMi HOG000207917.
HOVERGENi HBG005325.
InParanoidi O14647.
KOi K11367.
OMAi KRPYEQY.
OrthoDBi EOG7NPFSB.
PhylomeDBi O14647.
TreeFami TF313461.

Miscellaneous databases

ChiTaRSi CHD2. human.
GeneWikii CHD2.
GenomeRNAii 1106.
NextBioi 4584.
PROi O14647.
SOURCEi Search...

Gene expression databases

ArrayExpressi O14647.
Bgeei O14647.
CleanExi HS_CHD2.
Genevestigatori O14647.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR023779. Chromodomain_CS.
IPR025260. DUF4208.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view ]
Pfami PF00385. Chromo. 2 hits.
PF13907. DUF4208. 1 hit.
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view ]
SMARTi SM00298. CHROMO. 2 hits.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
SSF54160. SSF54160. 2 hits.
PROSITEi PS00598. CHROMO_1. 2 hits.
PS50013. CHROMO_2. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    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. III, 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.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Skin.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1635-1828 (ISOFORM 1).
    Tissue: T-cell.
  8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-240 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-207 AND SER-208, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-207; SER-208; THR-240 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: VARIANTS EEOC ARG-548 AND PRO-823.

Entry informationi

Entry nameiCHD2_HUMAN
AccessioniPrimary (citable) accession number: O14647
Secondary accession number(s): C6G482, Q96IP5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: December 12, 2006
Last modified: September 3, 2014
This is version 126 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi