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Entry version 173 (08 May 2019)
Sequence version 2 (12 Dec 2006)
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Protein

Chromodomain-helicase-DNA-binding protein 2

Gene

CHD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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).By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi509 – 516ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, DNA-binding, Helicase, Hydrolase
Biological processMyogenesis, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CHD2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1917 CHD2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602119 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O14647

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, childhood-onset (EEOC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615369
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078614112 – 1828Missing in EEOC. 1 PublicationAdd BLAST1717
Natural variantiVAR_078615121 – 1828Missing in EEOC. 1 PublicationAdd BLAST1708
Natural variantiVAR_070209548W → R in EEOC. 1 PublicationCorresponds to variant dbSNP:rs864309537EnsemblClinVar.1
Natural variantiVAR_070210823L → P in EEOC. 1 PublicationCorresponds to variant dbSNP:rs864309540EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
1106

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
CHD2

MalaCards human disease database

More...
MalaCardsi
CHD2
MIMi615369 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000173575

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2382 Lennox-Gastaut syndrome
1942 Myoclonic-astastic epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26453

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CHD2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000802261 – 1828Chromodomain-helicase-DNA-binding protein 2Add BLAST1828

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei207PhosphoserineCombined sources1
Modified residuei208PhosphoserineCombined sources1
Modified residuei240PhosphothreonineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei1085PhosphoserineCombined sources1
Modified residuei1087PhosphoserineCombined sources1
Modified residuei1365PhosphoserineCombined sources1
Modified residuei1386PhosphoserineCombined sources1
Modified residuei1807PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O14647

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O14647

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O14647

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O14647

PeptideAtlas

More...
PeptideAtlasi
O14647

PRoteomics IDEntifications database

More...
PRIDEi
O14647

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48144
48145 [O14647-2]
48146 [O14647-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O14647

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O14647

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O14647

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000173575 Expressed in 205 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O14647 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O14647 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA060744
HPA060960

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107531, 22 interactors

Protein interaction database and analysis system

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IntActi
O14647, 18 interactors

Molecular INTeraction database

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MINTi
O14647

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000377747

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O14647

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini261 – 353Chromo 1PROSITE-ProRule annotationAdd BLAST93
Domaini378 – 456Chromo 2PROSITE-ProRule annotationAdd BLAST79
Domaini496 – 666Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST171
Domaini795 – 946Helicase C-terminalPROSITE-ProRule annotationAdd BLAST152

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi617 – 620DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi13 – 74Ser-richAdd BLAST62
Compositional biasi121 – 139Ser-richAdd BLAST19
Compositional biasi966 – 1066Glu-richAdd BLAST101

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0383 Eukaryota
COG0553 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155888

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000207917

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O14647

KEGG Orthology (KO)

More...
KOi
K20091

Identification of Orthologs from Complete Genome Data

More...
OMAi
WQRDRKF

Database of Orthologous Groups

More...
OrthoDBi
1094764at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O14647

TreeFam database of animal gene trees

More...
TreeFami
TF313461

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00024 CHROMO, 2 hits
cd00079 HELICc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.10810, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR040793 CDH1_2_SANT_HL1
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR023779 Chromodomain_CS
IPR025260 DUF4208
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18375 CDH1_2_SANT_HL1, 1 hit
PF00385 Chromo, 2 hits
PF13907 DUF4208, 1 hit
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM01176 DUF4208, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00598 CHROMO_1, 2 hits
PS50013 CHROMO_2, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MMRNKDKSQE EDSSLHSNAS SHSASEEASG SDSGSQSESE QGSDPGSGHG
60 70 80 90 100
SESNSSSESS ESQSESESES AGSKSQPVLP EAKEKPASKK ERIADVKKMW
110 120 130 140 150
EEYPDVYGVR RSNRSRQEPS RFNIKEEASS GSESGSPKRR GQRQLKKQEK
160 170 180 190 200
WKQEPSEDEQ EQGTSAESEP EQKKVKARRP VPRRTVPKPR VKKQPKTQRG
210 220 230 240 250
KRKKQDSSDE DDDDDEAPKR QTRRRAAKNV SYKEDDDFET DSDDLIEMTG
260 270 280 290 300
EGVDEQQDNS ETIEKVLDSR LGKKGATGAS TTVYAIEANG DPSGDFDTEK
310 320 330 340 350
DEGEIQYLIK WKGWSYIHST WESEESLQQQ KVKGLKKLEN FKKKEDEIKQ
360 370 380 390 400
WLGKVSPEDV EYFNCQQELA SELNKQYQIV ERVIAVKTSK STLGQTDFPA
410 420 430 440 450
HSRKPAPSNE PEYLCKWMGL PYSECSWEDE ALIGKKFQNC IDSFHSRNNS
460 470 480 490 500
KTIPTRECKA LKQRPRFVAL KKQPAYLGGE NLELRDYQLE GLNWLAHSWC
510 520 530 540 550
KNNSVILADE MGLGKTIQTI SFLSYLFHQH QLYGPFLIVV PLSTLTSWQR
560 570 580 590 600
EFEIWAPEIN VVVYIGDLMS RNTIREYEWI HSQTKRLKFN ALITTYEILL
610 620 630 640 650
KDKTVLGSIN WAFLGVDEAH RLKNDDSLLY KTLIDFKSNH RLLITGTPLQ
660 670 680 690 700
NSLKELWSLL HFIMPEKFEF WEDFEEDHGK GRENGYQSLH KVLEPFLLRR
710 720 730 740 750
VKKDVEKSLP AKVEQILRVE MSALQKQYYK WILTRNYKAL AKGTRGSTSG
760 770 780 790 800
FLNIVMELKK CCNHCYLIKP PEENERENGQ EILLSLIRSS GKLILLDKLL
810 820 830 840 850
TRLRERGNRV LIFSQMVRML DILAEYLTIK HYPFQRLDGS IKGEIRKQAL
860 870 880 890 900
DHFNADGSED FCFLLSTRAG GLGINLASAD TVVIFDSDWN PQNDLQAQAR
910 920 930 940 950
AHRIGQKKQV NIYRLVTKGT VEEEIIERAK KKMVLDHLVI QRMDTTGRTI
960 970 980 990 1000
LENNSGRSNS NPFNKEELTA ILKFGAEDLF KELEGEESEP QEMDIDEILR
1010 1020 1030 1040 1050
LAETRENEVS TSATDELLSQ FKVANFATME DEEELEERPH KDWDEIIPEE
1060 1070 1080 1090 1100
QRKKVEEEER QKELEEIYML PRIRSSTKKA QTNDSDSDTE SKRQAQRSSA
1110 1120 1130 1140 1150
SESETEDSDD DKKPKRRGRP RSVRKDLVEG FTDAEIRRFI KAYKKFGLPL
1160 1170 1180 1190 1200
ERLECIARDA ELVDKSVADL KRLGELIHNS CVSAMQEYEE QLKENASEGK
1210 1220 1230 1240 1250
GPGKRRGPTI KISGVQVNVK SIIQHEEEFE MLHKSIPVDP EEKKKYCLTC
1260 1270 1280 1290 1300
RVKAAHFDVE WGVEDDSRLL LGIYEHGYGN WELIKTDPEL KLTDKILPVE
1310 1320 1330 1340 1350
TDKKPQGKQL QTRADYLLKL LRKGLEKKGA VTGGEEAKLK KRKPRVKKEN
1360 1370 1380 1390 1400
KVPRLKEEHG IELSSPRHSD NPSEEGEVKD DGLEKSPMKK KQKKKENKEN
1410 1420 1430 1440 1450
KEKQMSSRKD KEGDKERKKS KDKKEKPKSG DAKSSSKSKR SQGPVHITAG
1460 1470 1480 1490 1500
SEPVPIGEDE DDDLDQETFS ICKERMRPVK KALKQLDKPD KGLNVQEQLE
1510 1520 1530 1540 1550
HTRNCLLKIG DRIAECLKAY SDQEHIKLWR RNLWIFVSKF TEFDARKLHK
1560 1570 1580 1590 1600
LYKMAHKKRS QEEEEQKKKD DVTGGKKPFR PEASGSSRDS LISQSHTSHN
1610 1620 1630 1640 1650
LHPQKPHLPA SHGPQMHGHP RDNYNHPNKR HFSNADRGDW QRERKFNYGG
1660 1670 1680 1690 1700
GNNNPPWGSD RHHQYEQHWY KDHHYGDRRH MDAHRSGSYR PNNMSRKRPY
1710 1720 1730 1740 1750
DQYSSDRDHR GHRDYYDRHH HDSKRRRSDE FRPQNYHQQD FRRMSDHRPA
1760 1770 1780 1790 1800
MGYHGQGPSD HYRSFHTDKL GEYKQPLPPL HPAVSDPRSP PSQKSPHDSK
1810 1820
SPLDHRSPLE RSLEQKNNPD YNWNVRKT
Length:1,828
Mass (Da):211,344
Last modified:December 12, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTU9A0A1B0GTU9_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
954Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7Z3I4B7Z3I4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
514Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEU0A0A0D9SEU0_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFA3A0A0D9SFA3_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SGK0A0A0D9SGK0_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
425Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFV8A0A0D9SFV8_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GU59A0A1B0GU59_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
219Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEH6A0A0D9SEH6_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SF92A0A0D9SF92_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEP7A0A0D9SEP7_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD2
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1156I → L in AAB87382 (PubMed:9326634).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078614112 – 1828Missing in EEOC. 1 PublicationAdd BLAST1717
Natural variantiVAR_078615121 – 1828Missing in EEOC. 1 PublicationAdd BLAST1708
Natural variantiVAR_070209548W → R in EEOC. 1 PublicationCorresponds to variant dbSNP:rs864309537EnsemblClinVar.1
Natural variantiVAR_070210823L → P in EEOC. 1 PublicationCorresponds to variant dbSNP:rs864309540EnsemblClinVar.1
Natural variantiVAR_0610991574G → A. Corresponds to variant dbSNP:rs56227200EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_042791502 – 1828Missing in isoform 3. 2 PublicationsAdd BLAST1327
Alternative sequenceiVSP_0219181719 – 1739HHHDS…NYHQQ → YAKGCETPGANLCQELFLGR K in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_0219191740 – 1828Missing in isoform 2. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS10374.2 [O14647-1]
CCDS45356.1 [O14647-3]

NCBI Reference Sequences

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RefSeqi
NP_001036037.1, NM_001042572.2 [O14647-3]
NP_001262.3, NM_001271.3 [O14647-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000394196; ENSP00000377747; ENSG00000173575 [O14647-1]
ENST00000420239; ENSP00000406581; ENSG00000173575 [O14647-3]
ENST00000626874; ENSP00000486629; ENSG00000173575 [O14647-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1106

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1106

UCSC genome browser

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UCSCi
uc002bsn.4 human [O14647-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

3D structure databases

SMRiO14647
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107531, 22 interactors
IntActiO14647, 18 interactors
MINTiO14647
STRINGi9606.ENSP00000377747

PTM databases

iPTMnetiO14647
PhosphoSitePlusiO14647
SwissPalmiO14647

Polymorphism and mutation databases

BioMutaiCHD2

Proteomic databases

EPDiO14647
jPOSTiO14647
MaxQBiO14647
PaxDbiO14647
PeptideAtlasiO14647
PRIDEiO14647
ProteomicsDBi48144
48145 [O14647-2]
48146 [O14647-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1106
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394196; ENSP00000377747; ENSG00000173575 [O14647-1]
ENST00000420239; ENSP00000406581; ENSG00000173575 [O14647-3]
ENST00000626874; ENSP00000486629; ENSG00000173575 [O14647-2]
GeneIDi1106
KEGGihsa:1106
UCSCiuc002bsn.4 human [O14647-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1106
DisGeNETi1106

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CHD2
GeneReviewsiCHD2
HGNCiHGNC:1917 CHD2
HPAiHPA060744
HPA060960
MalaCardsiCHD2
MIMi602119 gene
615369 phenotype
neXtProtiNX_O14647
OpenTargetsiENSG00000173575
Orphaneti2382 Lennox-Gastaut syndrome
1942 Myoclonic-astastic epilepsy
PharmGKBiPA26453

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0383 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00940000155888
HOGENOMiHOG000207917
InParanoidiO14647
KOiK20091
OMAiWQRDRKF
OrthoDBi1094764at2759
PhylomeDBiO14647
TreeFamiTF313461

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CHD2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CHD2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1106

Protein Ontology

More...
PROi
PR:O14647

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173575 Expressed in 205 organ(s), highest expression level in corpus callosum
ExpressionAtlasiO14647 baseline and differential
GenevisibleiO14647 HS

Family and domain databases

CDDicd00024 CHROMO, 2 hits
cd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR040793 CDH1_2_SANT_HL1
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR023779 Chromodomain_CS
IPR025260 DUF4208
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF18375 CDH1_2_SANT_HL1, 1 hit
PF00385 Chromo, 2 hits
PF13907 DUF4208, 1 hit
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM01176 DUF4208, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits
PROSITEiView protein in PROSITE
PS00598 CHROMO_1, 2 hits
PS50013 CHROMO_2, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCHD2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O14647
Secondary accession number(s): C6G482, Q96IP5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: December 12, 2006
Last modified: May 8, 2019
This is version 173 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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