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] See more...

Aliases for RNF212 Gene

Aliases for RNF212 Gene

  • Ring Finger Protein 212 2 3 5
  • Probable E3 SUMO-Protein Transferase RNF212 3 4
  • Probable E3 SUMO-Protein Ligase RNF212 3 4
  • Hypothetical Protein LOC285498 2
  • RING Finger Protein 212 4
  • EC 2.3.2.- 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 and Spinal Muscular Atrophy, Type Iii. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is RNF212B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for RNF212 Gene

Genomics for RNF212 Gene

GeneHancer (GH) Regulatory Elements for RNF212 Gene

Promoters and enhancers for RNF212 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF212 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF212

Top Transcription factor binding sites by QIAGEN in the RNF212 gene promoter:
  • AP-1
  • c-Ets-1
  • E47
  • E4BP4
  • FOXO1
  • FOXO1a
  • SRF
  • SRF (504 AA)
  • Tal-1
  • ZID

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)
Size:
57,315 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:
  • RING finger protein 212 (RN212_HUMAN)
genes like me logo Genes that share domains with RNF212: view

No data available for Graphical View of Domain Structure and 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:0016740 transferase activity IEA --
GO:0019789 SUMO transferase activity IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF212

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 4
cytoskeleton 1

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

PathCards logo

SuperPathways for RNF212 Gene

No Data Available

UniProtKB/Swiss-Prot Q495C1-RN212_HUMAN

  • Pathway: Protein modification; protein sumoylation.

Interacting Proteins for RNF212 Gene

;

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 21873635
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

mRNA/cDNA for RNF212 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF212

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

No ASD Table

Relevant External Links for RNF212 Gene

GeneLoc Exon Structure for
RNF212

Expression for RNF212 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf212 17 31 30
  • 82.2 (n)
rat
(Rattus norvegicus)
Mammalia Rnf212 30
  • 80.63 (n)
dog
(Canis familiaris)
Mammalia RNF212 31 30
  • 79.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RNF212 30
  • 78.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF212 31
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF212 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF212 31 30
  • 64.97 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf212 30
  • 54.9 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100534793 30
  • 48.66 (n)
BX005356.3 31
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea D1081.9 31
  • 16 (a)
ManyToMany
zhp-3 31
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.285 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RNF212: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF212 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
787021 Benign: not provided 1,113,457(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1670533 Association: Recombination rate quantitative trait locus 1 1,084,399(-) G/A INTRON_VARIANT
rs3796619 Association: Recombination rate quantitative trait locus 1 1,101,493(-) A/G INTRON_VARIANT
rs60035268 Benign: not specified 1,093,699(-) G/A NONSENSE,INTRON_VARIANT
rs869025240 Uncertain Significance: Ductal breast carcinoma 1,085,944(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for RNF212 Gene

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

(2) MalaCards diseases for RNF212 Gene - From: OMIM, DISEASES, and GeneCards

- 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 41 54
  2. RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis. (PMID: 23396135) Reynolds A … Hunter N (Nature genetics 2013) 2 3 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese population. (PMID: 29277047) Yu CH … A ZC (European journal of obstetrics, gynecology, and reproductive biology 2018) 3 54

Products for RNF212 Gene

Sources for RNF212 Gene