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Q14781

- CBX2_HUMAN

UniProt

Q14781 - CBX2_HUMAN

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Protein

Chromobox protein homolog 2

Gene
CBX2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi75 – 8713A.T hookAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. DNA binding Source: UniProtKB-KW
  3. protein binding Source: IntAct

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. chromatin modification Source: UniProtKB-KW
  3. development of primary sexual characteristics Source: UniProtKB
  4. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  5. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Repressor

Keywords - Biological processi

Differentiation, Sexual differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_169436. Oxidative Stress Induced Senescence.

Names & Taxonomyi

Protein namesi
Recommended name:
Chromobox protein homolog 2
Gene namesi
Name:CBX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:1552. CBX2.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. heterochromatin Source: Ensembl
  2. nucleoplasm Source: Reactome
  3. nucleus Source: UniProtKB
  4. PcG protein complex Source: UniProtKB
  5. PRC1 complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

46,XY sex reversal 5 (SRXY5) [MIM:613080]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti98 – 981P → L in SRXY5. 1 Publication
Corresponds to variant rs121908255 [ dbSNP | Ensembl ].
VAR_063751
Natural varianti443 – 4431R → P in SRXY5. 1 Publication
Corresponds to variant rs121908256 [ dbSNP | Ensembl ].
VAR_063752

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613080. phenotype.
Orphaneti242. 46,XY complete gonadal dysgenesis.
PharmGKBiPA26127.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 532532Chromobox protein homolog 2PRO_0000080201Add
BLAST

Proteomic databases

MaxQBiQ14781.
PaxDbiQ14781.
PRIDEiQ14781.

PTM databases

PhosphoSiteiQ14781.

Expressioni

Gene expression databases

BgeeiQ14781.
CleanExiHS_CBX2.
GenevestigatoriQ14781.

Organism-specific databases

HPAiHPA023083.

Interactioni

Subunit structurei

Component of a PRC1-like complex.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MDFIQ997503EBI-745934,EBI-724076

Protein-protein interaction databases

BioGridi124228. 39 interactions.
DIPiDIP-48604N.
IntActiQ14781. 30 interactions.
MINTiMINT-1481691.
STRINGi9606.ENSP00000308750.

Structurei

Secondary structure

1
532
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi11 – 2313
Beta strandi26 – 338
Helixi38 – 403
Beta strandi42 – 454
Helixi46 – 483
Helixi53 – 597

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2D9UNMR-A9-69[»]
3H91X-ray1.50A/B9-62[»]
ProteinModelPortaliQ14781.
SMRiQ14781. Positions 9-60.

Miscellaneous databases

EvolutionaryTraceiQ14781.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini12 – 7059ChromoAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi163 – 1686Nuclear localization signal Reviewed prediction

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi87 – 12034Ser-richAdd
BLAST
Compositional biasi464 – 4696Poly-Ser

Sequence similaritiesi

Contains 1 chromo domain.

Phylogenomic databases

eggNOGiNOG117427.
HOGENOMiHOG000231217.
HOVERGENiHBG005256.
InParanoidiQ14781.
KOiK11451.
OMAiASLMKGM.
OrthoDBiEOG7S7SF4.
PhylomeDBiQ14781.
TreeFamiTF106456.

Family and domain databases

InterProiIPR017956. AT_hook_DNA-bd_motif.
IPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR023779. Chromodomain_CS.
[Graphical view]
PfamiPF00385. Chromo. 1 hit.
[Graphical view]
SMARTiSM00384. AT_hook. 1 hit.
SM00298. CHROMO. 1 hit.
[Graphical view]
SUPFAMiSSF54160. SSF54160. 1 hit.
PROSITEiPS00598. CHROMO_1. 1 hit.
PS50013. CHROMO_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14781-1) [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

MEELSSVGEQ VFAAECILSK RLRKGKLEYL VKWRGWSSKH NSWEPEENIL    50
DPRLLLAFQK KEHEKEVQNR KRGKRPRGRP RKLTAMSSCS RRSKLKEPDA 100
PSKSKSSSSS SSSTSSSSSS DEEDDSDLDA KRGPRGRETH PVPQKKAQIL 150
VAKPELKDPI RKKRGRKPLP PEQKATRRPV SLAKVLKTAR KDLGAPASKL 200
PPPLSAPVAG LAALKAHAKE ACGGPSAMAT PENLASLMKG MASSPGRGGI 250
SWQSSIVHYM NRMTQSQAQA ASRLALKAQA TNKCGLGLDL KVRTQKGELG 300
MSPPGSKIPK APSGGAVEQK VGNTGGPPHT HGASRVPAGC PGPQPAPTQE 350
LSLQVLDLQS VKNGMPGVGL LARHATATKG VPATNPAPGK GTGSGLIGAS 400
GATMPTDTSK SEKLASRAVA PPTPASKRDC VKGSATPSGQ ESRTAPGEAR 450
KAATLPEMSA GEESSSSDSD PDSASPPSTG QNPSVSVQTS QDWKPTRSLI 500
EHVFVTDVTA NLITVTVKES PTSVGFFNLR HY 532
Length:532
Mass (Da):56,081
Last modified:October 11, 2005 - v2
Checksum:i3DB58A654568BDD4
GO
Isoform 2 (identifier: Q14781-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     97-211: EPDAPSKSKS...PPLSAPVAGL → VGGCAGYADP...DGKEQEACVQ
     212-532: Missing.

Note: No experimental confirmation available.

Show »
Length:211
Mass (Da):23,312
Checksum:i97D17A3C7963ECA1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti98 – 981P → L in SRXY5. 1 Publication
Corresponds to variant rs121908255 [ dbSNP | Ensembl ].
VAR_063751
Natural varianti443 – 4431R → P in SRXY5. 1 Publication
Corresponds to variant rs121908256 [ dbSNP | Ensembl ].
VAR_063752

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei97 – 211115EPDAP…PVAGL → VGGCAGYADPTSQHPLGVGG RQREGLGPSGRGWHFCQQSV PLLGKQEPPFFLSLSFCCQG PQPAESSSPPLPGASCFSLS CTPLCWVAGSNCCRQALFPP RGSLGDGKEQEACVQ in isoform 2. VSP_015816Add
BLAST
Alternative sequencei212 – 532321Missing in isoform 2. VSP_015817Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC105337 Genomic DNA. No translation available.
BC004252 mRNA. Translation: AAH04252.1.
BC119759 mRNA. Translation: AAI19760.1.
BC119760 mRNA. Translation: AAI19761.1.
X77824 Genomic DNA. Translation: CAA54839.1.
CCDSiCCDS11764.1. [Q14781-2]
CCDS32757.1. [Q14781-1]
PIRiI38007.
RefSeqiNP_005180.1. NM_005189.2. [Q14781-1]
NP_116036.1. NM_032647.3. [Q14781-2]
UniGeneiHs.368410.

Genome annotation databases

EnsembliENST00000269399; ENSP00000269399; ENSG00000173894. [Q14781-2]
ENST00000310942; ENSP00000308750; ENSG00000173894. [Q14781-1]
ENST00000573833; ENSP00000460115; ENSG00000262762. [Q14781-1]
ENST00000576666; ENSP00000458957; ENSG00000262762. [Q14781-2]
GeneIDi84733.
KEGGihsa:84733.
UCSCiuc002jxb.2. human. [Q14781-2]
uc002jxc.3. human. [Q14781-1]

Polymorphism databases

DMDMi77416853.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC105337 Genomic DNA. No translation available.
BC004252 mRNA. Translation: AAH04252.1 .
BC119759 mRNA. Translation: AAI19760.1 .
BC119760 mRNA. Translation: AAI19761.1 .
X77824 Genomic DNA. Translation: CAA54839.1 .
CCDSi CCDS11764.1. [Q14781-2 ]
CCDS32757.1. [Q14781-1 ]
PIRi I38007.
RefSeqi NP_005180.1. NM_005189.2. [Q14781-1 ]
NP_116036.1. NM_032647.3. [Q14781-2 ]
UniGenei Hs.368410.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2D9U NMR - A 9-69 [» ]
3H91 X-ray 1.50 A/B 9-62 [» ]
ProteinModelPortali Q14781.
SMRi Q14781. Positions 9-60.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124228. 39 interactions.
DIPi DIP-48604N.
IntActi Q14781. 30 interactions.
MINTi MINT-1481691.
STRINGi 9606.ENSP00000308750.

PTM databases

PhosphoSitei Q14781.

Polymorphism databases

DMDMi 77416853.

Proteomic databases

MaxQBi Q14781.
PaxDbi Q14781.
PRIDEi Q14781.

Protocols and materials databases

DNASUi 84733.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000269399 ; ENSP00000269399 ; ENSG00000173894 . [Q14781-2 ]
ENST00000310942 ; ENSP00000308750 ; ENSG00000173894 . [Q14781-1 ]
ENST00000573833 ; ENSP00000460115 ; ENSG00000262762 . [Q14781-1 ]
ENST00000576666 ; ENSP00000458957 ; ENSG00000262762 . [Q14781-2 ]
GeneIDi 84733.
KEGGi hsa:84733.
UCSCi uc002jxb.2. human. [Q14781-2 ]
uc002jxc.3. human. [Q14781-1 ]

Organism-specific databases

CTDi 84733.
GeneCardsi GC17P077751.
HGNCi HGNC:1552. CBX2.
HPAi HPA023083.
MIMi 602770. gene.
613080. phenotype.
neXtProti NX_Q14781.
Orphaneti 242. 46,XY complete gonadal dysgenesis.
PharmGKBi PA26127.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG117427.
HOGENOMi HOG000231217.
HOVERGENi HBG005256.
InParanoidi Q14781.
KOi K11451.
OMAi ASLMKGM.
OrthoDBi EOG7S7SF4.
PhylomeDBi Q14781.
TreeFami TF106456.

Enzyme and pathway databases

Reactomei REACT_169436. Oxidative Stress Induced Senescence.

Miscellaneous databases

EvolutionaryTracei Q14781.
GeneWikii CBX2_(gene).
GenomeRNAii 84733.
NextBioi 74850.
PROi Q14781.
SOURCEi Search...

Gene expression databases

Bgeei Q14781.
CleanExi HS_CBX2.
Genevestigatori Q14781.

Family and domain databases

InterProi IPR017956. AT_hook_DNA-bd_motif.
IPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR023779. Chromodomain_CS.
[Graphical view ]
Pfami PF00385. Chromo. 1 hit.
[Graphical view ]
SMARTi SM00384. AT_hook. 1 hit.
SM00298. CHROMO. 1 hit.
[Graphical view ]
SUPFAMi SSF54160. SSF54160. 1 hit.
PROSITEi PS00598. CHROMO_1. 1 hit.
PS50013. CHROMO_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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 2).
    Tissue: Uterus.
  3. "Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25."
    Gecz J., Gaunt S.J., Passage E., Burton R.D., Cudrey C., Pearce J.J.H., Fontes M.
    Genomics 26:130-133(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 455-532.
    Tissue: Peripheral blood.
  4. "The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans."
    Levine S.S., Weiss A., Erdjument-Bromage H., Shao Z., Tempst P., Kingston R.E.
    Mol. Cell. Biol. 22:6070-6078(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A PRC1-LIKE HPRC-H COMPLEX WITH BMI1; CBX4; CBX8; PHC1; PHC2; PHC3; RING1 AND RNF2.
  5. "Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene."
    Biason-Lauber A., Konrad D., Meyer M., DeBeaufort C., Schoenle E.J.
    Am. J. Hum. Genet. 84:658-663(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN SEXUAL DEVELOPMENT, VARIANTS SRXY5 LEU-98 AND PRO-443.
  6. "Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus."
    Maertens G.N., El Messaoudi-Aubert S., Racek T., Stock J.K., Nicholls J., Rodriguez-Niedenfuhr M., Gil J., Peters G.
    PLoS ONE 4:E6380-E6380(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A PRC1-LIKE COMPLEX.
  7. "Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells."
    Vandamme J., Volkel P., Rosnoblet C., Le Faou P., Angrand P.O.
    Mol. Cell. Proteomics 0:0-0(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY (ISOFORM 2), IDENTIFICATION IN A PRC1-LIKE COMPLEX, SUBCELLULAR LOCATION.
  8. "Solution structure of the chromo domain of chromobox homolog 2 from human."
    RIKEN structural genomics initiative (RSGI)
    Submitted (JAN-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 6-69.

Entry informationi

Entry nameiCBX2_HUMAN
AccessioniPrimary (citable) accession number: Q14781
Secondary accession number(s): Q0VDA5, Q9BTB1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: October 11, 2005
Last modified: September 3, 2014
This is version 124 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

Miscellaneous

The human orthologuous proteins of Drosphila Polycomb group protein Pc, CBX2, CBX4, CBX6, CBX7 and CBX8, show distinct nulear localizations, contribute differently to transcriptional repression, and appear to be part of distinct PRC1-like protein complexes. The hPRC-H complex purification reported by 1 Publication probably presents a mixture of different complexes.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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