Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	285498
Gene name	Ring finger protein 212
Gene symbol	RNF212
Synonyms (NCBI Gene)	SPGF62ZHP3
Chromosome	4
Chromosome location	4p16.3
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 recombin

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Show/Hide all (114)

miRTarBase ID	miRNA	Experiments
MIRT1311920	hsa-miR-105	CLIP-seq
MIRT1311921	hsa-miR-1207-3p	CLIP-seq
MIRT1311922	hsa-miR-1273d	CLIP-seq
MIRT1311923	hsa-miR-1323	CLIP-seq
MIRT1311924	hsa-miR-141	CLIP-seq
MIRT1311925	hsa-miR-15a	CLIP-seq
MIRT1311926	hsa-miR-15b	CLIP-seq
MIRT1311927	hsa-miR-16	CLIP-seq
MIRT1311928	hsa-miR-1911	CLIP-seq
MIRT1311929	hsa-miR-195	CLIP-seq
MIRT1311930	hsa-miR-200a	CLIP-seq
MIRT1311931	hsa-miR-28-3p	CLIP-seq
MIRT1311932	hsa-miR-302f	CLIP-seq
MIRT1311933	hsa-miR-3065-5p	CLIP-seq
MIRT1311934	hsa-miR-3125	CLIP-seq
MIRT1311935	hsa-miR-3145-3p	CLIP-seq
MIRT1311936	hsa-miR-3618	CLIP-seq
MIRT1311937	hsa-miR-3662	CLIP-seq
MIRT1311938	hsa-miR-3674	CLIP-seq
MIRT1311939	hsa-miR-375	CLIP-seq
MIRT1311940	hsa-miR-3913-3p	CLIP-seq
MIRT1311941	hsa-miR-3916	CLIP-seq
MIRT1311942	hsa-miR-3926	CLIP-seq
MIRT1311943	hsa-miR-424	CLIP-seq
MIRT1311944	hsa-miR-4524	CLIP-seq
MIRT1311945	hsa-miR-4668-3p	CLIP-seq
MIRT1311946	hsa-miR-4717-3p	CLIP-seq
MIRT1311947	hsa-miR-4731-3p	CLIP-seq
MIRT1311948	hsa-miR-4760-3p	CLIP-seq
MIRT1311949	hsa-miR-4773	CLIP-seq
MIRT1311950	hsa-miR-4801	CLIP-seq
MIRT1311951	hsa-miR-4802-3p	CLIP-seq
MIRT1311952	hsa-miR-489	CLIP-seq
MIRT1311953	hsa-miR-497	CLIP-seq
MIRT1311954	hsa-miR-503	CLIP-seq
MIRT1311955	hsa-miR-548aa	CLIP-seq
MIRT1311956	hsa-miR-548ac	CLIP-seq
MIRT1311957	hsa-miR-548ae	CLIP-seq
MIRT1311958	hsa-miR-548aj	CLIP-seq
MIRT1311959	hsa-miR-548am	CLIP-seq
MIRT1311960	hsa-miR-548c-3p	CLIP-seq
MIRT1311961	hsa-miR-548d-3p	CLIP-seq
MIRT1311962	hsa-miR-548o	CLIP-seq
MIRT1311963	hsa-miR-548p	CLIP-seq
MIRT1311964	hsa-miR-548s	CLIP-seq
MIRT1311965	hsa-miR-548x	CLIP-seq
MIRT1311966	hsa-miR-548z	CLIP-seq
MIRT1311967	hsa-miR-556-5p	CLIP-seq
MIRT1311968	hsa-miR-561	CLIP-seq
MIRT1311969	hsa-miR-570	CLIP-seq
MIRT1311970	hsa-miR-610	CLIP-seq
MIRT1311971	hsa-miR-621	CLIP-seq
MIRT1311972	hsa-miR-646	CLIP-seq
MIRT1311973	hsa-miR-890	CLIP-seq
MIRT1311974	hsa-miR-934	CLIP-seq
MIRT2092733	hsa-miR-889	CLIP-seq
MIRT2092734	hsa-miR-605	CLIP-seq
MIRT2317216	hsa-miR-1255a	CLIP-seq
MIRT2317217	hsa-miR-1255b	CLIP-seq
MIRT2317218	hsa-miR-1257	CLIP-seq
MIRT2317219	hsa-miR-1275	CLIP-seq
MIRT2317220	hsa-miR-134	CLIP-seq
MIRT2317221	hsa-miR-199a-3p	CLIP-seq
MIRT2317222	hsa-miR-199b-3p	CLIP-seq
MIRT1311932	hsa-miR-302f	CLIP-seq
MIRT2317223	hsa-miR-3118	CLIP-seq
MIRT2317224	hsa-miR-3129-5p	CLIP-seq
MIRT2317225	hsa-miR-3136-5p	CLIP-seq
MIRT2317226	hsa-miR-320a	CLIP-seq
MIRT2317227	hsa-miR-320b	CLIP-seq
MIRT2317228	hsa-miR-320c	CLIP-seq
MIRT2317229	hsa-miR-320d	CLIP-seq
MIRT2317230	hsa-miR-4271	CLIP-seq
MIRT2317231	hsa-miR-4276	CLIP-seq
MIRT2317232	hsa-miR-4429	CLIP-seq
MIRT2317233	hsa-miR-4439	CLIP-seq
MIRT2317234	hsa-miR-4447	CLIP-seq
MIRT2317235	hsa-miR-4472	CLIP-seq
MIRT2317236	hsa-miR-4513	CLIP-seq
MIRT2317237	hsa-miR-4525	CLIP-seq
MIRT2317238	hsa-miR-4533	CLIP-seq
MIRT2317239	hsa-miR-4652-3p	CLIP-seq
MIRT2317240	hsa-miR-4665-5p	CLIP-seq
MIRT2317241	hsa-miR-4677-3p	CLIP-seq
MIRT2317242	hsa-miR-4679	CLIP-seq
MIRT2317243	hsa-miR-4723-5p	CLIP-seq
MIRT2317244	hsa-miR-4725-3p	CLIP-seq
MIRT2317245	hsa-miR-4727-3p	CLIP-seq
MIRT2317246	hsa-miR-4747-5p	CLIP-seq
MIRT2317247	hsa-miR-4790-3p	CLIP-seq
MIRT2317248	hsa-miR-4795-3p	CLIP-seq
MIRT2317249	hsa-miR-548a-3p	CLIP-seq
MIRT2317250	hsa-miR-548e	CLIP-seq
MIRT2317251	hsa-miR-548f	CLIP-seq
MIRT2317252	hsa-miR-552	CLIP-seq
MIRT2317253	hsa-miR-625	CLIP-seq
MIRT2317254	hsa-miR-633	CLIP-seq
MIRT2317255	hsa-miR-656	CLIP-seq
MIRT2092733	hsa-miR-889	CLIP-seq
MIRT2317256	hsa-miR-936	CLIP-seq
MIRT2317257	hsa-miR-938	CLIP-seq
MIRT2092733	hsa-miR-889	CLIP-seq
MIRT1311920	hsa-miR-105	CLIP-seq
MIRT2613162	hsa-miR-1224-5p	CLIP-seq
MIRT2613163	hsa-miR-1294	CLIP-seq
MIRT1311940	hsa-miR-3913-3p	CLIP-seq
MIRT2613164	hsa-miR-4316	CLIP-seq
MIRT2613165	hsa-miR-4751	CLIP-seq
MIRT1311952	hsa-miR-489	CLIP-seq
MIRT2092733	hsa-miR-889	CLIP-seq
MIRT2689868	hsa-miR-1279	CLIP-seq
MIRT2689869	hsa-miR-3143	CLIP-seq
MIRT2689870	hsa-miR-3152-3p	CLIP-seq
MIRT2689871	hsa-miR-4803	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence
GO:0000795	Component	Synaptonemal complex	IBA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0000795	Component	Synaptonemal complex	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006311	Process	Meiotic gene conversion	IEA
GO:0006311	Process	Meiotic gene conversion	ISS
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007131	Process	Reciprocal meiotic recombination	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	IEA
GO:0019789	Function	SUMO transferase activity	IBA
GO:0019789	Function	SUMO transferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051026	Process	Chiasma assembly	IEA
GO:0051026	Process	Chiasma assembly	ISS
GO:0051321	Process	Meiotic cell cycle	IEA

MIM	HGNC	e!Ensembl
612041	27729	ENSG00000178222

Q495C1

Protein name

Probable E3 SUMO-protein ligase RNF212 (EC 2.3.2.-) (Probable E3 SUMO-protein transferase RNF212) (RING finger protein 212)

Protein 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 reco

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14634	zf-RING_5	6 → 47	zinc-RING finger domain	Domain

Sequence

MANWVFCNRCFQPPHRTSCFSLTNCGHVYCDACLGKGKKNECLICKAPCRTVLLSKHTDA
DIQAFFMSIDSLCKKYSRETSQILEFQEKHRKRLLAFYREKISRLEESLRKSVLQIEQLQ
SMRSSQQTAFSTIKSSVSTKPHGCLLPPHSSAPDRLESMEVDLSPSPIRKSEIAAGPARI
SMISPPQDGRMGPHLTASFCFIPWLTLSKPPVPGECVISRGSPCFCIDVCPHWLLLLAFS
SGRHGELTNSKTLPIYAEVQRAVLFPFQQAEGTLDTFRTPAVSVVFPLCQFERKKSF

Sequence length

297

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down syndrome	risk factor	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-obstructive azoospermia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1	association	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNF212-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic failure 62	Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TESTICULAR AZOOSPERMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36689258	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30572911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	37124137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	31125047		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RNF212 (ring finger protein 212)