SUZ12 (joined to JAZF1)

2005-12-01   Hildegard Kehrer-Sawatzki 

Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081,Ulm, Germany

Identity

HGNC
LOCATION
17q11.2
LOCUSID
ALIAS
CHET9,IMMAS,JJAZ1
FUSION GENES

DNA/RNA

Description

16 exons; spans 64 kb;

Transcription

4,441 kb cDNA

Pseudogene

yes, also located in 17q11.2, contains exons 1-9

Proteins

Description

739 amino acids

Expression

tissue and stage specifically expressed; expression is noted in embryonic, juvenile and adult tissues. The tissues or organs that express SUZ12 are: bladder, blood, bone, bone marrow, brain, cervix, colon, eye, heart, kidney, liver, lung, lymph node, mammary gland, muscle, ovary, pancreas, peripheral nervous system, placenta, prostate, skin, soft tissue, stomach, tongue, testis, uterus, and the vascular system.

Localisation

nucleus

Function

SUZ12 is a zinc finger protein and member of the polycomb group (PcG) protein family. They act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are required to maintain the repression during later stages of development. They probably act via the methylation of histones, rendering chromatin heritably changed in its expressibility. SUZ12 is a component of the PRC2 complex, which methylates Lys-9 and Lys-27 residues of histone H3. SUZ12 is induced by E2F1 transcription factor.

Homology

Polycomb group of proteins

Mutations

Germinal

deleted in patients with Neurofibromatosis type 1 and large deletions in the NF1 gene region type-1 (spanning 1.4 Mb)

Somatic

disrupted by deletion breakpoints of Neurofibromatosis type 1 patients with deletions that span 1.2 Mb (type-2 deletions). JJAZ1/SUZ12 has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma and the translocation mediated recombination of both leads to a JJAZ1/JAZF1 fusion gene.

Implicated in

Entity name
endometrial stromal neoplasms with classic histology
Cytogenetics
nonrandom t(7;17)(p15; q21) in endometrial stromal neoplasms
Hybrid gene
JJAZ1/JAZF1 fusion gene
Fusion protein
unknown
Oncogenesis
unknown

Bibliography

Pubmed IDLast YearTitleAuthors
160493112005JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas: molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue.Hrzenjak A et al
150433122004Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity.Huang HY et al
152575182004High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.Kehrer-Sawatzki H et al
113716472001Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors.Koontz JI et al
128503742003Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17).Micci F et al
128433252003Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.Petek E et al

Other Information

Locus ID:

NCBI: 23512
MIM: 606245
HGNC: 17101
Ensembl: ENSG00000178691

Variants:

dbSNP: 23512
ClinVar: 23512
TCGA: ENSG00000178691
COSMIC: SUZ12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178691ENST00000322652Q15022
ENSG00000178691ENST00000580398J3QQW9

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
PRC2 methylates histones and DNAREACTOMER-HSA-212300
Developmental BiologyREACTOMER-HSA-1266738
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
Oxidative Stress Induced SenescenceREACTOMER-HSA-2559580
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206162352010Long noncoding RNA as modular scaffold of histone modification complexes.1192
166308182006Control of developmental regulators by Polycomb in human embryonic stem cells.956
222371512012Genetic inactivation of the polycomb repressive complex 2 in T cell acute lymphoblastic leukemia.175
208327272010Loss of miR-200 inhibition of Suz12 leads to polycomb-mediated repression required for the formation and maintenance of cancer stem cells.171
244498232014TGF-β-induced upregulation of malat1 promotes bladder cancer metastasis by associating with suz12.167
251190422014PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.135
252402812014PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.127
187724392008A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells.114
253057552014Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.72
237148542013PRC2 overexpression and PRC2-target gene repression relating to poorer prognosis in small cell lung cancer.54

Citation

Hildegard Kehrer-Sawatzki

SUZ12 (joined to JAZF1)

Atlas Genet Cytogenet Oncol Haematol. 2005-12-01

Online version: http://atlasgeneticsoncology.org/gene/41039/suz12