Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RNF212 Gene

Aliases for RNF212 Gene

  • Ring Finger Protein 212 2 3
  • RING Finger Protein 212 4 5
  • 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 qtl 1. 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).

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

Genomics for RNF212 Gene

Regulatory Elements for RNF212 Gene

Promoters for RNF212 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RNF212 on UCSC Golden Path with GeneCards custom track

Genomic Location for RNF212 Gene

Chromosome:
4
Start:
1,056,248 bp from pter
End:
1,113,794 bp from pter
Size:
57,547 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

Proteomics data for RNF212 Gene at MOPED

Post-translational modifications for RNF212 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for RNF212 Gene

Domains & Families for RNF212 Gene

Gene Families for RNF212 Gene

Protein Domains for RNF212 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RNF212 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q495C1

UniProtKB/Swiss-Prot:

RN212_HUMAN :
  • Contains 1 RING-type zinc finger.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RNF212: view

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

Gene Ontology (GO) - Molecular Function for RNF212 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0016874 ligase activity 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

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for RNF212 Gene COMPARTMENTS Subcellular localization image for RNF212 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components 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

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000389709%0d%0a9606.ENSP00000385269%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000389709 for RNF212 Gene via STRING

Gene Ontology (GO) - Biological Process for RNF212 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006311 meiotic gene conversion 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:

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 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, PaxDb, and MOPED for RNF212 Gene



SOURCE GeneReport for Unigene cluster for RNF212 Gene Hs.248290

genes like me logo Genes that share expression patterns with RNF212: view

Protein tissue co-expression partners for RNF212 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RNF212 35
  • 78.44 (n)
  • 73.13 (a)
dog
(Canis familiaris)
Mammalia RNF212 35
  • 79.34 (n)
  • 75.52 (a)
RNF212 36
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf212 16
Rnf212 36
  • 42 (a)
OneToOne
Rnf212 35
  • 82.2 (n)
  • 76.44 (a)
oppossum
(Monodelphis domestica)
Mammalia RNF212 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF212 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf212 35
  • 80.63 (n)
  • 75.92 (a)
chicken
(Gallus gallus)
Aves RNF212 35
  • 64.97 (n)
  • 56.85 (a)
RNF212 36
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf212 35
  • 54.9 (n)
  • 44.92 (a)
zebrafish
(Danio rerio)
Actinopterygii BX005356.3 36
  • 22 (a)
OneToOne
LOC100534793 35
  • 48.66 (n)
  • 36.5 (a)
worm
(Caenorhabditis elegans)
Secernentea D1081.9 36
  • 16 (a)
ManyToMany
zhp-3 36
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.285 36
  • 24 (a)
OneToMany
Species with no ortholog for RNF212:
  • 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

Q495C1-RN212_HUMAN
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 Sequence Context AA Info Type
rs17728127 - 1,072,981(+) CAAGA(C/G/T)GGCCC intron-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs583100 -- 1,088,398(-) atctt(A/G)aacgc intron-variant
rs608066 -- 1,093,278(+) tgttg(A/G)tattt intron-variant, downstream-variant-500B
rs620398 -- 1,099,232(-) TCAGA(A/G)TTCTT intron-variant
rs643484 -- 1,092,038(-) GGTGT(C/T)CCCGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv822425 CNV Loss 20364138
dgv5391n71 CNV Loss 21882294
nsv469998 CNV Loss 18288195
nsv878292 CNV Loss 21882294
nsv878327 CNV Loss 21882294
esv21991 CNV Gain 19812545
esv2726750 CNV Deletion 23290073
esv996519 CNV Deletion 20482838
esv1191684 CNV Deletion 17803354
esv2726752 CNV Deletion 23290073
esv2726753 CNV Deletion 23290073
esv24461 CNV Loss 19812545
dgv848e201 CNV Deletion 23290073
dgv849e201 CNV Deletion 23290073
esv1505561 CNV Deletion 17803354
nsv292333 CNV Loss 16902084
esv1703084 CNV Deletion 17803354
nsv829835 CNV Gain 17160897

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)

Relevant External Links for RNF212 Gene

HapMap Linkage Disequilibrium report
RNF212

Disorders for RNF212 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
recombination rate qtl 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RNF212

Genetic Association Database (GAD)
RNF212
Human Genome Epidemiology (HuGE) Navigator
RNF212
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF212
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 2008) 3 4 48 67
  2. RNF212 is a dosage-sensitive regulator of crossing-over during mammalian meiosis. (PMID: 23396135) Reynolds A. … Hunter N. (Nat. Genet. 2013) 2 3
  3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3
  4. Genetic analysis of variation in human meiotic recombination. (PMID: 19763160) Chowdhury R. … Cheung V.G. (PLoS Genet. 2009) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for RNF212 Gene

Sources for RNF212 Gene

Back to Top

Content