SUZ12
Polycomb protein SUZ12
Also known as: CHET9, JJAZ1, KIAA0160, SUZ12_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15022
- Gene
- SUZ12
- Ensembl
- ENSG00000178691
- Chromosome
- 17
- Canonical length
- 739 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Nucleoli rim,Nuclear bodies
OverviewNCBI Gene
This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]
Canonical amino-acid sequenceUniProt
739 residues, UniProt reviewed canonical sequence.
>Q15022|SUZ12
1 MAPQKHGGGG GGGSGPSAGS GGGGFGGSAA VAAATASGGK SGGGSCGGGG SYSASSSSSA
61 AAAAGAAVLP VKKPKMEHVQ ADHELFLQAF EKPTQIYRFL RTRNLIAPIF LHRTLTYMSH
121 RNSRTNIKRK TFKVDDMLSK VEKMKGEQES HSLSAHLQLT FTGFFHKNDK PSPNSENEQN
181 SVTLEVLLVK VCHKKRKDVS CPIRQVPTGK KQVPLNPDLN QTKPGNFPSL AVSSNEFEPS
241 NSHMVKSYSL LFRVTRPGRR EFNGMINGET NENIDVNEEL PARRKRNRED GEKTFVAQMT
301 VFDKNRRLQL LDGEYEVAMQ EMEECPISKK RATWETILDG KRLPPFETFS QGPTLQFTLR
361 WTGETNDKST APIAKPLATR NSESLHQENK PGSVKPTQTI AVKESLTTDL QTRKEKDTPN
421 ENRQKLRIFY QFLYNNNTRQ QTEARDDLHC PWCTLNCRKL YSLLKHLKLC HSRFIFNYVY
481 HPKGARIDVS INECYDGSYA GNPQDIHRQP GFAFSRNGPV KRTPITHILV CRPKRTKASM
541 SEFLESEDGE VEQQRTYSSG HNRLYFHSDT CLPLRPQEME VDSEDEKDPE WLREKTITQI
601 EEFSDVNEGE KEVMKLWNLH VMKHGFIADN QMNHACMLFV ENYGQKIIKK NLCRNFMLHL
661 VSMHDFNLIS IMSIDKAVTK LREMQQKLEK GESASPANEE ITEEQNGTAN GFSEINSKEK
721 ALETDSVSGV SKQSKKQKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SUZ12 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)
- 0.48
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 43 nTPM
- thymus: 36 nTPM
- lymph node: 31 nTPM
- tonsil: 28 nTPM
- testis: 26 nTPM
- retina: 25 nTPM
Single-cell type
- erythrocyte progenitors: 244 nCPM
- neutrophil progenitors: 214 nCPM
- monocyte progenitors: 208 nCPM
- megakaryocyte progenitors: 197 nCPM
- early primary spermatocytes: 195 nCPM
- differentiating spermatogonia: 164 nCPM
Immune cell
- memory B-cell: 2.4 nTPM
- naive CD8 T-cell: 2.1 nTPM
- NK-cell: 1.9 nTPM
- plasmacytoid DC: 1.9 nTPM
- naive B-cell: 1.8 nTPM
- T-reg: 1.8 nTPM
Brain region
- cerebellum: 26 nTPM
- white matter: 18 nTPM
- choroid plexus: 17 nTPM
- thalamus: 16 nTPM
- amygdala: 16 nTPM
- basal ganglia: 16 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SUZ12.
Disease | AllUniProt
Conditions SUZ12 is implicated in, by any mechanism.
- Imagawa-Matsumoto syndrome (IMMAS) MIM:618786
Disease | GeneticClinVar
34 pathogenic / likely-pathogenic of 220 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Imagawa-Matsumoto syndrome
- Inborn genetic diseases
- Acute megakaryoblastic leukemia in down syndrome
- Non-immune hydrops fetalis
- SUZ12-related disorder
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)
- 0.13
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.4
- DepMap mean gene effect
- -0.48
- 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
- cell population proliferation
- facultative heterochromatin formation
- negative regulation of cell differentiation
- negative regulation of transcription by RNA polymerase II
- oligodendrocyte differentiation
- positive regulation of cell population proliferation
- random inactivation of X chromosome
Molecular functions
- chromatin DNA binding
- enzyme activator activity
- histone H3K9me2/3 reader activity
- lncRNA binding
- promoter-specific chromatin binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- transcription corepressor binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Polycomb protein, VEFS-Box
- Polycomb protein SUZ12-like, zinc finger domain
- VEFS-Box of polycomb protein
- Polycomb protein SUZ12-like, Zn domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SUZ12 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 SUZ12 as an antibody target. Whether an autoantibody or antibody against SUZ12 could matter depends on whether native SUZ12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SUZ12 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 SUZ12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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