SUZ12 SUZ12 polycomb repressive complex 2 subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: SUZ12provided by HGNC
Official Full Name: SUZ12 polycomb repressive complex 2 subunitprovided by HGNC
Primary source: HGNC:HGNC:17101
See related: Ensembl:ENSG00000178691 MIM:606245; AllianceGenome:HGNC:17101
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHET9; IMMAS; JJAZ1
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]
Expression: Ubiquitous expression in testis (RPKM 13.7), lymph node (RPKM 12.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (31937007..32001038)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (32882881..32946915)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (30264026..30328057)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The expression and role of SUZ12 in lung adenocarcinoma.
Title: The expression and role of SUZ12 in lung adenocarcinoma.
Circ-SUZ12 Protects Cardiomyocytes from Hypoxia-Induced Dysfunction Through Upregulating SUZ12 Expression to Activate Wnt/beta-catenin Signaling Pathway.
Title: Circ-SUZ12 Protects Cardiomyocytes from Hypoxia-Induced Dysfunction Through Upregulating SUZ12 Expression to Activate Wnt/β-catenin Signaling Pathway.
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Title: An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Title: Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
The E2F6 Transcription Factor is Associated with the Mammalian SUZ12-Containing Polycomb Complex.
Title: The E2F6 Transcription Factor is Associated with the Mammalian SUZ12-Containing Polycomb Complex.
SUZ12 participates in the proliferation of PNH clones by regulating histone H3K27me3 levels.
Title: SUZ12 participates in the proliferation of PNH clones by regulating histone H3K27me3 levels.
JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
Title: JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
Title: RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
DEP Domain Containing 1 Promotes Proliferation, Invasion, and Epithelial-Mesenchymal Transition in Colorectal Cancer by Enhancing Expression of Suppressor of Zest 12.
Title: DEP Domain Containing 1 Promotes Proliferation, Invasion, and Epithelial-Mesenchymal Transition in Colorectal Cancer by Enhancing Expression of Suppressor of Zest 12.
HMGA1 promotes gastric cancer growth and metastasis by transactivating SUZ12 and CCDC43 expression.
Title: HMGA1 promotes gastric cancer growth and metastasis by transactivating SUZ12 and CCDC43 expression.

Submit: New GeneRIF Correction See all GeneRIFs (80)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Imagawa-Matsumoto syndrome MedGen: C5394073 OMIM: 618786 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	SUZ12, one of the Polycomb Repressive Complex 2 proteins, is identified to interact with HIV-1 Tat in Jurkat cell	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH75544 (e-PCR)
- UniSTS:83761

A007E42 (e-PCR)
- UniSTS:68707

RH78003 (e-PCR)
- UniSTS:8548

RH25378 (e-PCR)
- UniSTS:90471

WI-11887 (e-PCR)
- UniSTS:38777

G42375 (e-PCR)
- UniSTS:139489

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables lncRNA binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables promoter-specific chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in facultative heterochromatin formation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in random inactivation of X chromosome	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of ESC/E(Z) complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ESC/E(Z) complex	IDA Inferred from Direct Assay more info	PubMed
part_of ESC/E(Z) complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of RSC-type complex	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin silencing complex	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-DNA complex	IEA Inferred from Electronic Annotation more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
located_in sex chromatin	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: polycomb protein SUZ12

Names: chET 9 protein; chromatin precipitated E2F target 9 protein; joined to JAZF1 protein; suppressor of zeste 12 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009237.1 RefSeqGene

Range

4983..69014

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001321207.2 → NP_001308136.1 polycomb protein SUZ12 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC129917, BC018583, BI668506, BM975130, DR000680

Consensus CDS

CCDS82101.1

UniProtKB/TrEMBL

A8K1U9, J3QQW9

Related

ENSP00000463936.1, ENST00000580398.2

Conserved Domains (1) summary

pfam09733
Location:523 → 657

VEFS-Box; VEFS-Box of polycomb protein
NM_015355.4 → NP_056170.2 polycomb protein SUZ12 isoform 1

See identical proteins and their annotated locations for NP_056170.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform.

Source sequence(s)

AC129917, BI668506, BM975130, D63881, DR000680

Consensus CDS

CCDS11270.1

UniProtKB/Swiss-Prot

Q15022, Q96BD9

UniProtKB/TrEMBL

A8K1U9

Related

ENSP00000316578.5, ENST00000322652.10

Conserved Domains (1) summary

pfam09733
Location:546 → 680

VEFS-Box; VEFS-Box of polycomb protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

31937007..32001038

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435704.1 → XP_047291660.1 polycomb protein SUZ12 isoform X1

UniProtKB/TrEMBL

A8K1U9
XM_006721794.4 → XP_006721857.1 polycomb protein SUZ12 isoform X2

UniProtKB/TrEMBL

A8K1U9

Conserved Domains (1) summary

pfam09733
Location:410 → 544

VEFS-Box; VEFS-Box of polycomb protein
XM_047435707.1 → XP_047291663.1 polycomb protein SUZ12 isoform X5
XM_047435705.1 → XP_047291661.1 polycomb protein SUZ12 isoform X3
XM_047435706.1 → XP_047291662.1 polycomb protein SUZ12 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

32882881..32946915

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315625.1 → XP_054171600.1 polycomb protein SUZ12 isoform X1

UniProtKB/TrEMBL

A8K1U9
XM_054315626.1 → XP_054171601.1 polycomb protein SUZ12 isoform X2

UniProtKB/TrEMBL

A8K1U9
XM_054315629.1 → XP_054171604.1 polycomb protein SUZ12 isoform X5
XM_054315627.1 → XP_054171602.1 polycomb protein SUZ12 isoform X3
XM_054315628.1 → XP_054171603.1 polycomb protein SUZ12 isoform X4