Seroatlas · Human Serome Atlas

CBX2

Chromobox protein homolog 2

Also known as: CBX2_HUMAN, CDCA6, M33, MGC10561

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q14781
Gene
CBX2
Ensembl
ENSG00000173894
Chromosome
17
Canonical length
532 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

532 residues, UniProt reviewed canonical sequence.

>Q14781|CBX2
     1  MEELSSVGEQ VFAAECILSK RLRKGKLEYL VKWRGWSSKH NSWEPEENIL DPRLLLAFQK
    61  KEHEKEVQNR KRGKRPRGRP RKLTAMSSCS RRSKLKEPDA PSKSKSSSSS SSSTSSSSSS
   121  DEEDDSDLDA KRGPRGRETH PVPQKKAQIL VAKPELKDPI RKKRGRKPLP PEQKATRRPV
   181  SLAKVLKTAR KDLGAPASKL PPPLSAPVAG LAALKAHAKE ACGGPSAMAT PENLASLMKG
   241  MASSPGRGGI SWQSSIVHYM NRMTQSQAQA ASRLALKAQA TNKCGLGLDL KVRTQKGELG
   301  MSPPGSKIPK APSGGAVEQK VGNTGGPPHT HGASRVPAGC PGPQPAPTQE LSLQVLDLQS
   361  VKNGMPGVGL LARHATATKG VPATNPAPGK GTGSGLIGAS GATMPTDTSK SEKLASRAVA
   421  PPTPASKRDC VKGSATPSGQ ESRTAPGEAR KAATLPEMSA GEESSSSDSD PDSASPPSTG
   481  QNPSVSVQTS QDWKPTRSLI EHVFVTDVTA NLITVTVKES PTSVGFFNLR HY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CBX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.68
Highest tissue expression
12 nTPM

Expression across tissuesHPA

Tissue

  • testis: 12 nTPM
  • thymus: 6.8 nTPM
  • esophagus: 4.1 nTPM
  • heart muscle: 2.3 nTPM
  • ovary: 2.2 nTPM
  • bone marrow: 2.1 nTPM

Single-cell type

  • late spermatids: 67 nCPM
  • early spermatids: 37 nCPM
  • differentiating spermatogonia: 20 nCPM
  • hematopoietic stem cells: 20 nCPM
  • undifferentiated spermatogonia: 14 nCPM
  • late primary spermatocytes: 10 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • amygdala: 1.8 nTPM
  • medulla oblongata: 1.6 nTPM
  • pons: 1.6 nTPM
  • thalamus: 1.5 nTPM
  • basal ganglia: 1.4 nTPM
  • white matter: 1.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CBX2.

Disease | AllUniProt

Conditions CBX2 is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • 46,XY sex reversal 5

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.19
gnomAD pLI
1
gnomAD missense Z
-0.26
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CBX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CBX2 as an antibody target. Whether an autoantibody or antibody against CBX2 could matter depends on whether native CBX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CBX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CBX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CBX2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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