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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12077	RNF212 Human Pre-designed siRNA Set A		/	Unkown

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

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