RNF2 ring finger protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF2provided by HGNC
Official Full Name: ring finger protein 2provided by HGNC
Primary source: HGNC:HGNC:10061
See related: Ensembl:ENSG00000121481 MIM:608985; AllianceGenome:HGNC:10061
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: BAP1; DING; BAP-1; HIPI3; RING2; LUSYAM; RING1B
Summary: Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 7.8), placenta (RPKM 6.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q25.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (185045558..185102603)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (184402444..184459513)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (185014690..185071735)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Molecular basis for RASSF10/NPM/RNF2 feedback cascade-mediated regulation of gastric cancer cell proliferation.
Title: Molecular basis for RASSF10/NPM/RNF2 feedback cascade-mediated regulation of gastric cancer cell proliferation.
Citrullinating enzyme PADI4 and transcriptional repressor RING1B bind in cancer cells.
Title: Citrullinating enzyme PADI4 and transcriptional repressor RING1B bind in cancer cells.
M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.
Title: M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.
N-Terminally arginylated ubiquitin is attached to histone H2A by RING1B E3 ligase in human cells.
Title: N-Terminally arginylated ubiquitin is attached to histone H2A by RING1B E3 ligase in human cells.
RNF2 inhibits E-Cadherin transcription to promote hepatocellular carcinoma metastasis via inducing histone mono-ubiquitination.
Title: RNF2 inhibits E-Cadherin transcription to promote hepatocellular carcinoma metastasis via inducing histone mono-ubiquitination.
The ubiquitin ligase RNF2 stabilizes ERalpha and modulates breast cancer progression.
Title: The ubiquitin ligase RNF2 stabilizes ERα and modulates breast cancer progression.
SPI1 mediates transcriptional activation of TPX2 and RNF2 to regulate the radiosensitivity of lung squamous cell carcinoma.
Title: SPI1 mediates transcriptional activation of TPX2 and RNF2 to regulate the radiosensitivity of lung squamous cell carcinoma.
Hospital-acquired serum phosphate derangements and their associated in-hospital mortality.
Title: Hospital-acquired serum phosphate derangements and their associated in-hospital mortality.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Title: Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
DNA methyltransferase 3 beta regulates promoter methylation of microRNA-149 to augment esophageal squamous cell carcinoma development through the ring finger protein 2/Wnt/beta-catenin axis.
Title: DNA methyltransferase 3 beta regulates promoter methylation of microRNA-149 to augment esophageal squamous cell carcinoma development through the ring finger protein 2/Wnt/β-catenin axis.

Submit: New GeneRIF Correction See all GeneRIFs (69)

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
Luo-Schoch-Yamamoto syndrome MedGen: C5561946 OMIM: 619460 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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	Phosphorylated DING (pDING) inhibits HIV-1 Tat-induced neuronal cell injury by suppressing the activity of serine/threonine kinases p38 MAPK and Cdk5 and enhancing the activity of neuroprotective factor MEF2 through the phosphotase activity of pDING	PubMed
	tat	HIV-1 Tat downregulates ring finger protein 2 (RNF2) in HEK 293T cells	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

RH99320 (e-PCR)
- UniSTS:87072

D1S1739E (e-PCR)
- UniSTS:150317

ha3079 (e-PCR)
- UniSTS:515639

RNF2_1843 (e-PCR)
- UniSTS:280971

SHGC-34344 (e-PCR)
- UniSTS:45480

SHGC-75971 (e-PCR)
- UniSTS:43973

D1S2184 (e-PCR)
- UniSTS:22238

SHGC-76058 (e-PCR)
- UniSTS:47349

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RING-like zinc finger domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AK119 ubiquitin ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior axis specification	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in epigenetic regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gastrulation with mouth forming second	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in germ cell development	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of MLL1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of PRC1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of PcG protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of PcG protein complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in euchromatin	IEA Inferred from Electronic Annotation more info
located_in nuclear body	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	IDA Inferred from Direct Assay more info	PubMed
located_in sex chromatin	IEA Inferred from Electronic Annotation more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RING2

Names: HIP2-interacting protein 3; RING finger protein 1B; RING finger protein BAP-1; RING-type E3 ubiquitin transferase RING2; huntingtin-interacting protein 2-interacting protein 3; protein DinG

NP_009143.1

EC 2.3.2.27

XP_005245470.1

EC 2.3.2.27

XP_011508153.1

EC 2.3.2.27

XP_011508154.1

EC 2.3.2.27

XP_054194045.1

EC 2.3.2.27

XP_054194046.1

EC 2.3.2.27

XP_054194047.1

EC 2.3.2.27

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.

mRNA and Protein(s)

NM_007212.4 → NP_009143.1 E3 ubiquitin-protein ligase RING2

See identical proteins and their annotated locations for NP_009143.1

Status: REVIEWED

Source sequence(s)

AF141327, AL109865

Consensus CDS

CCDS1365.1

UniProtKB/Swiss-Prot

B2RBS7, B3KRH1, Q5TEN1, Q5TEN2, Q99496

Related

ENSP00000356480.3, ENST00000367510.8

Conserved Domains (3) summary

COG5222
Location:11 → 103

COG5222; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]

cd16531
Location:51 → 91

RING-HC_RING1_like; RING finger, HC subclass, found in really interesting new gene proteins RING1, RING2 and similar proteins

cd17167
Location:225 → 330

RAWUL_RING2; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in really interesting new gene 2 protein (RING2)

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

185045558..185102603

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509852.3 → XP_011508154.1 E3 ubiquitin-protein ligase RING2 isoform X1

See identical proteins and their annotated locations for XP_011508154.1

UniProtKB/Swiss-Prot

B2RBS7, B3KRH1, Q5TEN1, Q5TEN2, Q99496

Conserved Domains (3) summary

COG5222
Location:11 → 103

COG5222; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]

cd16531
Location:51 → 91

RING-HC_RING1_like; RING finger, HC subclass, found in really interesting new gene proteins RING1, RING2 and similar proteins

cd17167
Location:225 → 330

RAWUL_RING2; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in really interesting new gene 2 protein (RING2)
XM_011509851.4 → XP_011508153.1 E3 ubiquitin-protein ligase RING2 isoform X1

See identical proteins and their annotated locations for XP_011508153.1

UniProtKB/Swiss-Prot

B2RBS7, B3KRH1, Q5TEN1, Q5TEN2, Q99496

Conserved Domains (3) summary

COG5222
Location:11 → 103

COG5222; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]

cd16531
Location:51 → 91

RING-HC_RING1_like; RING finger, HC subclass, found in really interesting new gene proteins RING1, RING2 and similar proteins

cd17167
Location:225 → 330

RAWUL_RING2; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in really interesting new gene 2 protein (RING2)
XM_005245413.4 → XP_005245470.1 E3 ubiquitin-protein ligase RING2 isoform X2

See identical proteins and their annotated locations for XP_005245470.1

Conserved Domains (2) summary

cd16531
Location:2 → 42

RING-HC_RING1_like; RING finger, HC subclass, found in really interesting new gene proteins RING1, RING2 and similar proteins

cd17167
Location:176 → 281

RAWUL_RING2; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in really interesting new gene 2 protein (RING2)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

184402444..184459513

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338071.1 → XP_054194046.1 E3 ubiquitin-protein ligase RING2 isoform X1

UniProtKB/Swiss-Prot

B2RBS7, B3KRH1, Q5TEN1, Q5TEN2, Q99496
XM_054338070.1 → XP_054194045.1 E3 ubiquitin-protein ligase RING2 isoform X1

UniProtKB/Swiss-Prot

B2RBS7, B3KRH1, Q5TEN1, Q5TEN2, Q99496
XM_054338072.1 → XP_054194047.1 E3 ubiquitin-protein ligase RING2 isoform X2