1. Gene
  2. RNF212 - ring finger protein 212 Gene

RNF212 - ring finger protein 212 Gene

Homo sapiens

Also known as ZHP3; SPGF62

Gene ID: 285498 | Gene type: protein coding

About RNF212

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,056,251-1,113,710 (from NCBI)

This gene has 16 transcripts (splice variants), 98 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in ovary (RPKM 1.7), testis (RPKM 1.5) and 20 other tissues.

Summary

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]

RNF212 Products(5)

mRNA Protein Name
NM_001131034.4 NP_001124506.1 probable E3 SUMO-protein ligase RNF212 isoform a
NM_001193318.3 NP_001180247.1 probable E3 SUMO-protein ligase RNF212 isoform c
NM_001366918.1 NP_001353847.1 probable E3 SUMO-protein ligase RNF212 isoform d
NM_001366919.1 NP_001353848.1 probable E3 SUMO-protein ligase RNF212 isoform e
NM_194439.5 NP_919420.1 probable E3 SUMO-protein ligase RNF212 isoform b

RNF212 Protein Structure

zf-RING_5

zf-RING_5: zinc-RING finger domain (7 - 46)

  • 0
  • 100
  • 200
  • 297 a.a.
Protein Preferred Names Protein Names

probable E3 SUMO-protein ligase RNF212

probable E3 SUMO-protein transferase RNF212

Related Diseases

Diseases Alias
Spermatogenic Failure 62

SPGF62

Recombination Rate Quantitative Trait Locus 1

Recombination Rate Qtl 1

RRQTL1

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Infertility
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus RNF212 MGD MGI:3645767
Canis familiaris RNF212 VGNC VGNC:45655
Macaca mulatta RNF212 VGNC VGNC:81558
Felis catus RNF212 VGNC VGNC:107442
Rattus norvegicus RNF212 RGD RGD:1588767