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Aliases for RNF212 Gene

Aliases for RNF212 Gene

  • Ring Finger Protein 212 2 3
  • RING Finger Protein 212 4 5
  • Probable E3 SUMO-Protein Ligase RNF212 3
  • Hypothetical Protein LOC285498 2
  • EC 6.3.2.- 4
  • ZHP3 3

External Ids for RNF212 Gene

Previous HGNC Symbols for RNF212 Gene

  • LOC285498

Summaries for RNF212 Gene

Entrez Gene Summary for RNF212 Gene

  • This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

GeneCards Summary for RNF212 Gene

RNF212 (Ring Finger Protein 212) is a Protein Coding gene. Diseases associated with RNF212 include Recombination Rate Quantitative Trait Locus 1. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is RNF212B.

UniProtKB/Swiss-Prot for RNF212 Gene

  • SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination (By similarity).

Additional gene information for RNF212 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF212 Gene

Genomics for RNF212 Gene

GeneHancer (GH) Regulatory Elements for RNF212 Gene

Promoters and enhancers for RNF212 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I001114 Promoter 0.9 EPDnew 550.8 +0.2 222 0.1 RING1 E2F1 POLR2A NRF1 MAX E2F6 EZH2 CHD2 LOC105374344 RNF212 LOC100129917 ZNF141 ZNF718 ZNF876P NELFA CTBP1-AS2 ZNF732 LOC100288172
GH04I001113 Promoter 0.7 Ensembl 550.8 -0.1 -107 0.2 RING1 E2F1 CHD2 LOC105374344 RNF212 LOC100129917 ZNF141 ZNF718 ZNF876P NELFA CTBP1-AS2 ZNF732 LOC100288172
GH04I001212 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 -102.2 -102237 8 HDGF PKNOX1 SMAD1 BMI1 BATF IRF4 ZNF207 ATF7 ETV6 BCLAF1 CTBP1-AS2 CRIPAK UVSSA MAEA CTBP1 RNF212 LOC105374344 CTBP1-AS
GH04I001197 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 6.2 -90.9 -90856 13.8 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B DMAP1 IRF4 YY1 SLC30A9 SPON2 CRIPAK CTBP1-AS2 UVSSA CTBP1 MAEA RNF212 ENSG00000273179 LOC101928548 LOC100130872
GH04I001176 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 8.1 -64.0 -63962 1.7 BCOR KLF1 FOXA2 NFRKB MAX TSC22D4 ZMYM3 EBF1 THRB RAD21 PDE6B CRIPAK RNF212 ENSG00000251639 DGKQ UVSSA GAK ENSG00000273179 LOC101928548 GC04P001147
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF212 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF212 gene promoter:

Genomic Locations for RNF212 Gene

Genomic Locations for RNF212 Gene
chr4:1,056,248-1,113,794
(GRCh38/hg38)
Size:
57,547 bases
Orientation:
Minus strand
chr4:1,050,038-1,107,352
(GRCh37/hg19)

Genomic View for RNF212 Gene

Genes around RNF212 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF212 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF212 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF212 Gene

Proteins for RNF212 Gene

  • Protein details for RNF212 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q495C1-RN212_HUMAN
    Recommended name:
    Probable E3 SUMO-protein ligase RNF212
    Protein Accession:
    Q495C1
    Secondary Accessions:
    • C9J8N0
    • Q495C0
    • Q86W82
    • Q8IY99
    • Q8N8U7

    Protein attributes for RNF212 Gene

    Size:
    297 amino acids
    Molecular mass:
    33365 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RNF212 Gene

neXtProt entry for RNF212 Gene

Post-translational modifications for RNF212 Gene

No Post-translational modifications

No data available for DME Specific Peptides for RNF212 Gene

Domains & Families for RNF212 Gene

Gene Families for RNF212 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RNF212 Gene

Suggested Antigen Peptide Sequences for RNF212 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RNF212: view

No data available for UniProtKB/Swiss-Prot for RNF212 Gene

Function for RNF212 Gene

Molecular function for RNF212 Gene

UniProtKB/Swiss-Prot Function:
SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination (By similarity).

Enzyme Numbers (IUBMB) for RNF212 Gene

Phenotypes From GWAS Catalog for RNF212 Gene

Gene Ontology (GO) - Molecular Function for RNF212 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016874 ligase activity IEA --
GO:0019789 SUMO transferase activity IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF212: view
genes like me logo Genes that share phenotypes with RNF212: view

Animal Models for RNF212 Gene

MGI Knock Outs for RNF212:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RNF212 Gene

Localization for RNF212 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF212 Gene

Nucleus. Chromosome. Note=Associates to the synaptonemal complex. Localizes to a minority of double-strand breaks (DSBs) sites. Marks crossover sites during midpachynema (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF212 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for RNF212 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000795 colocalizes_with synaptonemal complex ISS --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with RNF212: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNF212 Gene

Pathways & Interactions for RNF212 Gene

SuperPathways for RNF212 Gene

No Data Available

UniProtKB/Swiss-Prot Q495C1-RN212_HUMAN

  • Pathway: Protein modification; protein sumoylation.

Interacting Proteins for RNF212 Gene

Selected Interacting proteins: Q495C1-RN212_HUMAN for RNF212 Gene via IID

Symbol External ID(s) Details
ELAVL1

Gene Ontology (GO) - Biological Process for RNF212 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006311 meiotic gene conversion ISS --
GO:0007129 synapsis IBA --
GO:0007131 reciprocal meiotic recombination ISS --
GO:0016925 protein sumoylation IEA --
GO:0051026 chiasma assembly ISS --
genes like me logo Genes that share ontologies with RNF212: view

No data available for Pathways by source and SIGNOR curated interactions for RNF212 Gene

Drugs & Compounds for RNF212 Gene

No Compound Related Data Available

Transcripts for RNF212 Gene

Unigene Clusters for RNF212 Gene

Ring finger protein 212:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF212 Gene

No ASD Table

Relevant External Links for RNF212 Gene

GeneLoc Exon Structure for
RNF212
ECgene alternative splicing isoforms for
RNF212

Expression for RNF212 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF212 Gene

mRNA differential expression in normal tissues according to GTEx for RNF212 Gene

This gene is overexpressed in Pituitary (x5.1) and Pancreas (x4.1).

Protein differential expression in normal tissues from HIPED for RNF212 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RNF212 Gene



Protein tissue co-expression partners for RNF212 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNF212 Gene:

RNF212

SOURCE GeneReport for Unigene cluster for RNF212 Gene:

Hs.248290

Evidence on tissue expression from TISSUES for RNF212 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with RNF212: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF212 Gene

Orthologs for RNF212 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF212 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF212 34
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf212 33 16 34
  • 82.2 (n)
rat
(Rattus norvegicus)
Mammalia Rnf212 33
  • 80.63 (n)
dog
(Canis familiaris)
Mammalia RNF212 33 34
  • 79.34 (n)
cow
(Bos Taurus)
Mammalia RNF212 33
  • 78.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF212 34
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF212 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF212 33 34
  • 64.97 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf212 33
  • 54.9 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100534793 33
  • 48.66 (n)
BX005356.3 34
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea D1081.9 34
  • 16 (a)
ManyToMany
zhp-3 34
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.285 34
  • 24 (a)
OneToMany
Species where no ortholog for RNF212 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNF212 Gene

ENSEMBL:
Gene Tree for RNF212 (if available)
TreeFam:
Gene Tree for RNF212 (if available)

Paralogs for RNF212 Gene

Paralogs for RNF212 Gene

genes like me logo Genes that share paralogs with RNF212: view

Variants for RNF212 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RNF212 Gene

RN212_HUMAN-Q495C1
Genetic variations in RNF212 influence recombination rate, designated recombination rate quantitative trait locus 1 (RRQTL1) [MIM:612042].

Sequence variations from dbSNP and Humsavar for RNF212 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1670533 association, Recombination rate quantitative trait locus 1 1,084,399(-) G/A genic_downstream_transcript_variant, intron_variant
rs3796619 association, Recombination rate quantitative trait locus 1 1,101,493(-) A/G intron_variant
rs869025240 uncertain-significance, Ductal breast carcinoma 1,085,944(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs60035268 benign, not specified 1,093,699(-) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, stop_gained
rs1000027076 -- 1,073,307(-) C/G downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RNF212 Gene

Variant ID Type Subtype PubMed ID
dgv5080n100 CNV gain 25217958
dgv801e201 CNV deletion 23290073
dgv802e201 CNV deletion 23290073
dgv8881n54 CNV gain 21841781
dgv8882n54 CNV gain+loss 21841781
dgv8883n54 CNV gain+loss 21841781
dgv8884n54 CNV gain+loss 21841781
dgv8885n54 CNV gain 21841781
dgv8886n54 CNV loss 21841781
dgv8887n54 CNV loss 21841781
dgv8888n54 CNV loss 21841781
dgv8889n54 CNV loss 21841781
esv1191684 CNV deletion 17803354
esv1505561 CNV deletion 17803354
esv1703084 CNV deletion 17803354
esv21991 CNV gain 19812545
esv24461 CNV loss 19812545
esv2726750 CNV deletion 23290073
esv2726752 CNV deletion 23290073
esv2726753 CNV deletion 23290073
esv3046033 CNV deletion 24192839
esv3386160 CNV duplication 20981092
esv3563230 CNV deletion 23714750
esv3575669 CNV gain 25503493
esv996519 CNV deletion 20482838
nsv1003219 CNV gain 25217958
nsv1012892 CNV loss 25217958
nsv1073714 CNV deletion 25765185
nsv1073715 CNV deletion 25765185
nsv1074130 CNV deletion 25765185
nsv1112841 CNV deletion 24896259
nsv1123738 CNV deletion 24896259
nsv1136376 CNV deletion 24896259
nsv1147548 CNV deletion 26484159
nsv292333 CNV deletion 16902084
nsv469998 CNV loss 18288195
nsv593236 CNV gain+loss 21841781
nsv593237 CNV loss 21841781
nsv593238 CNV gain 21841781
nsv593273 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv829835 CNV gain 17160897
nsv950328 CNV deletion 24416366
nsv950329 CNV deletion 24416366

Variation tolerance for RNF212 Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF212 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF212

Disorders for RNF212 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNF212 Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
recombination rate quantitative trait locus 1
  • rrqtl1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF212

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RNF212: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF212 Gene

Publications for RNF212 Gene

  1. Sequence variants in the RNF212 gene associate with genome-wide recombination rate. (PMID: 18239089) Kong A … Stefansson K (Science (New York, N.Y.) 2008) 3 4 44 58
  2. RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis. (PMID: 23396135) Reynolds A … Hunter N (Nature genetics 2013) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K … Gorospe M (The EMBO journal 2009) 3 58

Products for RNF212 Gene

Sources for RNF212 Gene

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