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Entry version 174 (18 Sep 2019)
Sequence version 2 (11 Oct 2005)
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Protein

Chromobox protein homolog 2

Gene

CBX2

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

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 (PubMed:21282530). 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 (PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). Involved in sexual development, acting as activator of NR5A1 expression (PubMed:19361780).By similarity2 Publications

Miscellaneous

The human orthologuous proteins of Drosphila Polycomb group protein Pc, CBX2, CBX4, CBX6, CBX7 and CBX8, show distinct nuclear 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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi75 – 87A.T hookAdd BLAST13

<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, Repressor
Biological processDifferentiation, Sexual differentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2559580 Oxidative Stress Induced Senescence
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3899300 SUMOylation of transcription cofactors
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-4655427 SUMOylation of DNA methylation proteins
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-8943724 Regulation of PTEN gene transcription

<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:
Chromobox protein homolog 2
<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:CBX2
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1552 CBX2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602770 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14781

<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

Chromosome, 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

46,XY sex reversal 5 (SRXY5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.
Related information in OMIM
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_06375198P → L in SRXY5. 1 PublicationCorresponds to variant dbSNP:rs121908255EnsemblClinVar.1
Natural variantiVAR_063752443R → P in SRXY5. 1 PublicationCorresponds to variant dbSNP:rs121908256EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi17I → F: Reduced interaction with HIST2H3A and HIST1H3A. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
84733

MalaCards human disease database

More...
MalaCardsi
CBX2
MIMi613080 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000173894

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

More...
Orphaneti
242 46,XY complete gonadal dysgenesis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26127

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14781

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3779761

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CBX2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
77416853

<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_00000802011 – 532Chromobox protein homolog 2Add BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki146Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki153Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei247Asymmetric dimethylarginine; alternateCombined sources1
Modified residuei247Omega-N-methylarginine; alternateCombined sources1
Modified residuei302PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14781

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14781

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14781

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14781

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

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PaxDbi
Q14781

PeptideAtlas

More...
PeptideAtlasi
Q14781

PRoteomics IDEntifications database

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PRIDEi
Q14781

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
60169 [Q14781-1]
60170 [Q14781-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14781

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

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PhosphoSitePlusi
Q14781

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed during interphase and metaphase.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000173894 Expressed in 122 organ(s), highest expression level in secondary oocyte

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14781 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA023083

<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

Component of a PRC1-like complex (PubMed:12167701, PubMed:19636380, PubMed:21282530). The composition of the PRC1 complex may differ between the PRC1 complex in pluripotent embryonic stem cells containing RNF2, CBX7 and PCGF2, and the PRC1 complex in differentiating cells containing RNF2, CBX2, CBX4 and BMI1 (By similarity). May interact with HIST2H3A, HIST1H3A and RNF2 (PubMed:18927235).

Interacts (via chromodomain) with histone H3K9Me3 and H3K27me3 (By similarity).

By similarity4 Publications

<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)

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BioGridi
124228, 66 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q14781

Database of interacting proteins

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DIPi
DIP-48604N

Protein interaction database and analysis system

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IntActi
Q14781, 57 interactors

Molecular INTeraction database

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MINTi
Q14781

STRING: functional protein association networks

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STRINGi
9606.ENSP00000308750

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q14781

<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

Secondary structure

1532
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q14781

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q14781

<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>Domaini12 – 70ChromoPROSITE-ProRule annotationAdd BLAST59

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 66Involved in the interaction with HIST2H3A and HIST1H3A1 PublicationAdd BLAST66

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>Motifi163 – 168Nuclear localization signalSequence analysis6

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 biasi87 – 120Ser-richAdd BLAST34
Compositional biasi464 – 469Poly-Ser6

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IPQ5 Eukaryota
ENOG4111HE0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158816

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231217

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14781

KEGG Orthology (KO)

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KOi
K11451

Identification of Orthologs from Complete Genome Data

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OMAi
AHTKEAC

Database of Orthologous Groups

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OrthoDBi
1628171at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14781

TreeFam database of animal gene trees

More...
TreeFami
TF106456

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR033773 CBX7_C
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR023779 Chromodomain_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17218 CBX7_C, 1 hit
PF00385 Chromo, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00298 CHROMO, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54160 SSF54160, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00598 CHROMO_1, 1 hit
PS50013 CHROMO_2, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)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 2 <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
Isoform 1 (identifier: Q14781-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEELSSVGEQ VFAAECILSK RLRKGKLEYL VKWRGWSSKH NSWEPEENIL
60 70 80 90 100
DPRLLLAFQK KEHEKEVQNR KRGKRPRGRP RKLTAMSSCS RRSKLKEPDA
110 120 130 140 150
PSKSKSSSSS SSSTSSSSSS DEEDDSDLDA KRGPRGRETH PVPQKKAQIL
160 170 180 190 200
VAKPELKDPI RKKRGRKPLP PEQKATRRPV SLAKVLKTAR KDLGAPASKL
210 220 230 240 250
PPPLSAPVAG LAALKAHAKE ACGGPSAMAT PENLASLMKG MASSPGRGGI
260 270 280 290 300
SWQSSIVHYM NRMTQSQAQA ASRLALKAQA TNKCGLGLDL KVRTQKGELG
310 320 330 340 350
MSPPGSKIPK APSGGAVEQK VGNTGGPPHT HGASRVPAGC PGPQPAPTQE
360 370 380 390 400
LSLQVLDLQS VKNGMPGVGL LARHATATKG VPATNPAPGK GTGSGLIGAS
410 420 430 440 450
GATMPTDTSK SEKLASRAVA PPTPASKRDC VKGSATPSGQ ESRTAPGEAR
460 470 480 490 500
KAATLPEMSA GEESSSSDSD PDSASPPSTG QNPSVSVQTS QDWKPTRSLI
510 520 530
EHVFVTDVTA NLITVTVKES PTSVGFFNLR HY
Length:532
Mass (Da):56,081
Last modified:October 11, 2005 - 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: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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06375198P → L in SRXY5. 1 PublicationCorresponds to variant dbSNP:rs121908255EnsemblClinVar.1
Natural variantiVAR_063752443R → P in SRXY5. 1 PublicationCorresponds to variant dbSNP:rs121908256EnsemblClinVar.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_01581697 – 211EPDAP…PVAGL → VGGCAGYADPTSQHPLGVGG RQREGLGPSGRGWHFCQQSV PLLGKQEPPFFLSLSFCCQG PQPAESSSPPLPGASCFSLS CTPLCWVAGSNCCRQALFPP RGSLGDGKEQEACVQ in isoform 2. 1 PublicationAdd BLAST115
Alternative sequenceiVSP_015817212 – 532Missing in isoform 2. 1 PublicationAdd BLAST321

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS11764.1 [Q14781-2]
CCDS32757.1 [Q14781-1]

Protein sequence database of the Protein Information Resource

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PIRi
I38007

NCBI Reference Sequences

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RefSeqi
NP_005180.1, NM_005189.2 [Q14781-1]
NP_116036.1, NM_032647.3 [Q14781-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000269399; ENSP00000269399; ENSG00000173894 [Q14781-2]
ENST00000310942; ENSP00000308750; ENSG00000173894 [Q14781-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84733

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84733

UCSC genome browser

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UCSCi
uc002jxb.3 human [Q14781-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D9UNMR-A9-69[»]
3H91X-ray1.50A/B9-62[»]
5EPKX-ray1.80A8-62[»]
SMRiQ14781
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi124228, 66 interactors
CORUMiQ14781
DIPiDIP-48604N
IntActiQ14781, 57 interactors
MINTiQ14781
STRINGi9606.ENSP00000308750

Chemistry databases

BindingDBiQ14781
ChEMBLiCHEMBL3779761

PTM databases

iPTMnetiQ14781
PhosphoSitePlusiQ14781

Polymorphism and mutation databases

BioMutaiCBX2
DMDMi77416853

Proteomic databases

EPDiQ14781
jPOSTiQ14781
MassIVEiQ14781
MaxQBiQ14781
PaxDbiQ14781
PeptideAtlasiQ14781
PRIDEiQ14781
ProteomicsDBi60169 [Q14781-1]
60170 [Q14781-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
Q14781

The DNASU plasmid repository

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DNASUi
84733

Genome annotation databases

EnsembliENST00000269399; ENSP00000269399; ENSG00000173894 [Q14781-2]
ENST00000310942; ENSP00000308750; ENSG00000173894 [Q14781-1]
GeneIDi84733
KEGGihsa:84733
UCSCiuc002jxb.3 human [Q14781-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84733
DisGeNETi84733

GeneCards: human genes, protein and diseases

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GeneCardsi
CBX2
HGNCiHGNC:1552 CBX2
HPAiHPA023083
MalaCardsiCBX2
MIMi602770 gene
613080 phenotype
neXtProtiNX_Q14781
OpenTargetsiENSG00000173894
Orphaneti242 46,XY complete gonadal dysgenesis
PharmGKBiPA26127

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IPQ5 Eukaryota
ENOG4111HE0 LUCA
GeneTreeiENSGT00940000158816
HOGENOMiHOG000231217
InParanoidiQ14781
KOiK11451
OMAiAHTKEAC
OrthoDBi1628171at2759
PhylomeDBiQ14781
TreeFamiTF106456

Enzyme and pathway databases

ReactomeiR-HSA-2559580 Oxidative Stress Induced Senescence
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3899300 SUMOylation of transcription cofactors
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-4655427 SUMOylation of DNA methylation proteins
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-8943724 Regulation of PTEN gene transcription

Miscellaneous databases

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

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ChiTaRSi
CBX2 human
EvolutionaryTraceiQ14781

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CBX2_(gene)

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

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GenomeRNAii
84733
PharosiQ14781

Protein Ontology

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PROi
PR:Q14781

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000173894 Expressed in 122 organ(s), highest expression level in secondary oocyte
GenevisibleiQ14781 HS

Family and domain databases

InterProiView protein in InterPro
IPR033773 CBX7_C
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR023779 Chromodomain_CS
PfamiView protein in Pfam
PF17218 CBX7_C, 1 hit
PF00385 Chromo, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 1 hit
SUPFAMiSSF54160 SSF54160, 1 hit
PROSITEiView protein in PROSITE
PS00598 CHROMO_1, 1 hit
PS50013 CHROMO_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiCBX2_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: Q14781
Secondary accession number(s): Q0VDA5, Q9BTB1
<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: January 24, 2001
Last sequence update: October 11, 2005
Last modified: September 18, 2019
This is version 174 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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