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Q14781

- CBX2_HUMAN

UniProt

Q14781 - CBX2_HUMAN

Protein

Chromobox protein homolog 2

Gene

CBX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (11 Oct 2005)
      Previous versions | rss
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    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ14781.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini12 – 7059ChromoPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi163 – 1686Nuclear localization signalSequence Analysis

    Compositional bias

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

    Sequence similaritiesi

    Contains 1 A.T hook DNA-binding domain.Curated
    Contains 1 chromo domain.PROSITE-ProRule annotation

    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. 1 PublicationVSP_015816Add
    BLAST
    Alternative sequencei212 – 532321Missing in isoform 2. 1 PublicationVSP_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]
    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 ]
    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

    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: October 1, 2014
    This is version 125 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 PubMed:12167701 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