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Q14781 (CBX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Chromobox protein homolog 2
Gene names
Name:CBX2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length532 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5 Ref.7

Subunit structure

Component of a PRC1-like complex. Ref.4 Ref.6 Ref.7

Subcellular location

Nucleus Ref.7.

Involvement in disease

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. Ref.5

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 Ref.4 probably presents a mixture of different complexes.

Sequence similarities

Contains 1 A.T hook DNA-binding domain.

Contains 1 chromo domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

MDFIQ997503EBI-745934,EBI-724076

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14781-1)

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.
Isoform 2 (identifier: Q14781-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 532532Chromobox protein homolog 2
PRO_0000080201

Regions

Domain12 – 7059Chromo
DNA binding75 – 8713A.T hook
Motif163 – 1686Nuclear localization signal Potential
Compositional bias87 – 12034Ser-rich
Compositional bias464 – 4696Poly-Ser

Natural variations

Alternative sequence97 – 211115EPDAP…PVAGL → VGGCAGYADPTSQHPLGVGG RQREGLGPSGRGWHFCQQSV PLLGKQEPPFFLSLSFCCQG PQPAESSSPPLPGASCFSLS CTPLCWVAGSNCCRQALFPP RGSLGDGKEQEACVQ in isoform 2.
VSP_015816
Alternative sequence212 – 532321Missing in isoform 2.
VSP_015817
Natural variant981P → L in SRXY5. Ref.5
Corresponds to variant rs121908255 [ dbSNP | Ensembl ].
VAR_063751
Natural variant4431R → P in SRXY5. Ref.5
Corresponds to variant rs121908256 [ dbSNP | Ensembl ].
VAR_063752

Secondary structure

............ 532
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 11, 2005. Version 2.
Checksum: 3DB58A654568BDD4

FASTA53256,081
        10         20         30         40         50         60 
MEELSSVGEQ VFAAECILSK RLRKGKLEYL VKWRGWSSKH NSWEPEENIL DPRLLLAFQK 

        70         80         90        100        110        120 
KEHEKEVQNR KRGKRPRGRP RKLTAMSSCS RRSKLKEPDA PSKSKSSSSS SSSTSSSSSS 

       130        140        150        160        170        180 
DEEDDSDLDA KRGPRGRETH PVPQKKAQIL VAKPELKDPI RKKRGRKPLP PEQKATRRPV 

       190        200        210        220        230        240 
SLAKVLKTAR KDLGAPASKL PPPLSAPVAG LAALKAHAKE ACGGPSAMAT PENLASLMKG 

       250        260        270        280        290        300 
MASSPGRGGI SWQSSIVHYM NRMTQSQAQA ASRLALKAQA TNKCGLGLDL KVRTQKGELG 

       310        320        330        340        350        360 
MSPPGSKIPK APSGGAVEQK VGNTGGPPHT HGASRVPAGC PGPQPAPTQE LSLQVLDLQS 

       370        380        390        400        410        420 
VKNGMPGVGL LARHATATKG VPATNPAPGK GTGSGLIGAS GATMPTDTSK SEKLASRAVA 

       430        440        450        460        470        480 
PPTPASKRDC VKGSATPSGQ ESRTAPGEAR KAATLPEMSA GEESSSSDSD PDSASPPSTG 

       490        500        510        520        530 
QNPSVSVQTS QDWKPTRSLI EHVFVTDVTA NLITVTVKES PTSVGFFNLR HY 

« Hide

Isoform 2 [UniParc].

Checksum: 97D17A3C7963ECA1
Show »

FASTA21123,312

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11764.1. [Q14781-2]
CCDS32757.1. [Q14781-1]
PIRI38007.
RefSeqNP_005180.1. NM_005189.2. [Q14781-1]
NP_116036.1. NM_032647.3. [Q14781-2]
UniGeneHs.368410.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2D9UNMR-A9-69[»]
3H91X-ray1.50A/B9-62[»]
ProteinModelPortalQ14781.
SMRQ14781. Positions 9-60.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124228. 39 interactions.
DIPDIP-48604N.
IntActQ14781. 30 interactions.
MINTMINT-1481691.
STRING9606.ENSP00000308750.

PTM databases

PhosphoSiteQ14781.

Polymorphism databases

DMDM77416853.

Proteomic databases

MaxQBQ14781.
PaxDbQ14781.
PRIDEQ14781.

Protocols and materials databases

DNASU84733.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269399; ENSP00000269399; ENSG00000173894. [Q14781-2]
ENST00000310942; ENSP00000308750; ENSG00000173894. [Q14781-1]
ENST00000573833; ENSP00000460115; ENSG00000262762. [Q14781-1]
ENST00000576666; ENSP00000458957; ENSG00000262762. [Q14781-2]
GeneID84733.
KEGGhsa:84733.
UCSCuc002jxb.2. human. [Q14781-2]
uc002jxc.3. human. [Q14781-1]

Organism-specific databases

CTD84733.
GeneCardsGC17P077751.
HGNCHGNC:1552. CBX2.
HPAHPA023083.
MIM602770. gene.
613080. phenotype.
neXtProtNX_Q14781.
Orphanet242. 46,XY complete gonadal dysgenesis.
PharmGKBPA26127.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG117427.
HOGENOMHOG000231217.
HOVERGENHBG005256.
InParanoidQ14781.
KOK11451.
OMAASLMKGM.
OrthoDBEOG7S7SF4.
PhylomeDBQ14781.
TreeFamTF106456.

Enzyme and pathway databases

ReactomeREACT_120956. Cellular responses to stress.

Gene expression databases

BgeeQ14781.
CleanExHS_CBX2.
GenevestigatorQ14781.

Family and domain databases

InterProIPR017956. AT_hook_DNA-bd_motif.
IPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR023779. Chromodomain_CS.
[Graphical view]
PfamPF00385. Chromo. 1 hit.
[Graphical view]
SMARTSM00384. AT_hook. 1 hit.
SM00298. CHROMO. 1 hit.
[Graphical view]
SUPFAMSSF54160. SSF54160. 1 hit.
PROSITEPS00598. CHROMO_1. 1 hit.
PS50013. CHROMO_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ14781.
GeneWikiCBX2_(gene).
GenomeRNAi84733.
NextBio74850.
PROQ14781.
SOURCESearch...

Entry information

Entry nameCBX2_HUMAN
AccessionPrimary (citable) accession number: Q14781
Secondary accession number(s): Q0VDA5, Q9BTB1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: October 11, 2005
Last modified: July 9, 2014
This is version 123 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM