SUZ12 - SUZ12 polycomb repressive complex 2 subunit Gene

Also Known as CHET9; IMMAS; JJAZ1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23512

About SUZ12

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:31,937,007-32,001,038 (from NCBI)

This gene has 4 transcripts (splice variants), 275 orthologues and is associated with 92 phenotypes. Ubiquitous expression in testis (RPKM 13.7), lymph node (RPKM 12.3) and 25 other tissues.

Summary

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]

SUZ12 Products (2)

mRNA Protein Name
NM_001321207.2 NP_001308136.1 polycomb protein SUZ12 isoform 2
NM_015355.4 NP_056170.2 polycomb protein SUZ12 isoform 1
Molecular Function GO Annotation Evidence Références Source
enables enzyme activator activity IMP
IMP: Inferred from mutant phenotype
15385962 GOA
enables methylated histone binding IDA
IDA: Inferred from direct assay
21029866 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17560333 GOA
enables transcription corepressor binding IPI
IPI: Inferred from physical interaction
29628311 GOA
Biological Process GO Annotation Evidence Références Source
involved in negative regulation of cell differentiation IMP
IMP: Inferred from mutant phenotype
19847889 GOA
Cellular Component GO Annotation Evidence Références Source
part of ESC/E(Z) complex IDA
IDA: Inferred from direct assay
20075857 GOA
part of ESC/E(Z) complex IMP
IMP: Inferred from mutant phenotype
15385962 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SUZ12 Protein Structure

VEFS-Box

VEFS-Box: VEFS-Box of polycomb protein (545 - 681)

  • 0
  • 200
  • 400
  • 600
  • 739 a.a.
Protein Preferred Names Protein Names

polycomb protein SUZ12

  • chET 9 protein

SUZ12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
SUZ12 Q15022 JARID2 Homo sapiens Q92833-1 20075857
Intra
SUZ12 Q15022 JARID2 Homo sapiens Q92833-1 20075857
Intra
SUZ12 Q15022 EZH2 Homo sapiens Q15910 20075857
Intra
SUZ12 Q15022 EZH2 Homo sapiens Q15910 23079660
Intra
SUZ12 Q15022 EZH2 Homo sapiens Q15910 20075857
Intra
SUZ12 Q15022 EZH2 Homo sapiens Q15910 23238014
Intra
SUZ12 Q15022 EZH2 Homo sapiens Q15910 22439931
Intra
SUZ12 Q15022 HDAC3 Homo sapiens O15379 23079660
Intra
SUZ12 Q15022 PML-RAR Homo sapiens Q15156 17560333
Intra
SUZ12 Q15022 EED Homo sapiens O75530 22439931
Intra
SUZ12 Q15022 EED Homo sapiens O75530 35016035
Intra
SUZ12 Q15022 EED Homo sapiens O75530 20075857
Intra
SUZ12 Q15022 EED Homo sapiens O75530 20543829
Intra
SUZ12 Q15022 EED Homo sapiens O75530
TAP
24981860
Intra
SUZ12 Q15022 EED Homo sapiens O75530
TAP
27705803
Intra
SUZ12 Q15022 EED Homo sapiens O75530 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

SUZ12 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P80353 SUZ12 Antibody (YA044) WB, ICC/IF, IP Human, Mouse, Rat
HY-P83440 SUZ12 Antibody (YA3185) WB, ICC/IF, IP Human, Mouse, Rat
HY-P85378 SUZ12 Antibody (YA5070) ICC/IF Human
HY-P86583 SUZ12 Antibody (YA6275) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Imagawa-Matsumoto Syndrome
  • IMMAS

Endometrial Stromal Sarcoma
  • Ess

  • Endometrial Stromal Sarcoma, High Grade

  • Undifferentiated Endometrial Sarcoma

  • Stromal Sarcoma Of The Corpus Uteri

  • Sarcoma Endometrial Stromal

  • Sarcoma, Endometrial Stromal

  • Undifferentiated Stromal Sarcoma

Weaver Syndrome
  • Wss

  • Weaver-Smith Syndrome

  • WVS

  • Weaver-Like Syndrome

  • Weaver-Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies Syndrome

  • Camptodactyly - Overgrowth - Unusual Facies

  • Ezh2 Related Overgrowth

  • Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

  • Weaver Smith Syndrome

  • Weaver Like Syndrome

  • Weaver Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies

  • Weaver Syndrome 1

  • Weaver Syndrome 2

  • Wvs1

  • Wvs2

Acute Megakaryoblastic Leukemia In Down Syndrome
  • Ds-Amkl

Atypical Neurofibroma
Endometrial Stromal Tumor
  • Endometrial Stromal Neoplasm

  • Endometrial Stromal Tumors

Plexiform Neurofibroma
  • Neurofibroma Plexiform

  • Neurofibroma, Plexiform

Endometrial Stromal Nodule
Sarcoma
  • Connective And Soft Tissue Neoplasm

  • Tumor Of Soft Tissue And Skeleton

  • Sarcomas

  • Sarcoma - Category

Vaginal Endometrial Stromal Sarcoma
Vagina Sarcoma
  • Sarcoma Of The Vagina

  • Vaginal Sarcoma

Diffuse Large B-Cell Lymphoma
  • Dlbcl

  • Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

  • Large B-Cell Diffuse Lymphoma

  • Lymphoma, Large B-Cell, Diffuse

  • Dlbcl - [Diffuse Large B-Cell Lymphoma]

  • Diffuse Large Beta Cell Lymphoma

Childhood Malignant Schwannoma
  • Pediatric Mpnst

  • Childhood Neurofibrosarcoma

Cellular Leiomyoma
Adult Malignant Schwannoma
  • Adult Mpnst

  • Adult Neurofibrosarcoma

Epithelioid Malignant Peripheral Nerve Sheath Tumor
  • Epithelioid Mpnst

  • Malignant Epithelioid Neoplasm Of The Peripheral Nerve Sheath

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Ovarian Sex-Cord Stromal Tumor
  • Ovarian Sex Cord Tumor With Annular Tubules

  • Ovarian Sex Cord-Stromal Tumor

  • Stromal Tumor Of Ovary

Neurofibrosarcoma
  • Neurosarcoma

  • Malignant Peripheral Nerve Sheath Tumor

Cervical Adenosarcoma
  • Cervical Muellerian Adenosarcoma

  • Cervical Mullerian Adenosarcoma

Neurilemmomatosis
  • Schwannomatosis

  • Neurofibromatosis Type 3

  • Nf3

  • Neurilemmomatosis Congenital Cutaneous

  • Neurinomatosis

  • Congenital Cutaneous Neurilemmomatosis

  • Multiple Neurilemmomas

  • Multiple Schwannomas

  • Neurilemmomatosis, Congenital Cutaneous

  • Schwannomatosis 1

  • Neurofibromatosis 3

  • Mixed Central And Peripheral Neurofibromatosis

  • Nf3 - [Neurofibromatosis Type 3]

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
  • Icf Syndrome

  • Immunodeficiency Syndrome, Variable

  • Ciid

  • Centromeric Instability, Immunodeficiency Syndrome

  • Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

  • Icf

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SUZ12 VGNC VGNC:65859
Bos taurus SUZ12 VGNC VGNC:35493
Macaca mulatta SUZ12 VGNC VGNC:78144
Mus musculus SUZ12 MGD MGI:1261758
Canis familiaris SUZ12 VGNC VGNC:47002
Rattus norvegicus SUZ12 RGD RGD:1593621
Others SUZ12 NCBI