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285498 RNF212

285498

RNF212

ring finger protein 212

protein-coding

Homo sapiens

基因描述

Type Description
Definition ring finger protein 212

研究结论

Date Results Publications
2020-07-18 11:28:00 For the first time, study reports biallelic variants in STAG3, in one sporadic patient, and a homozygous RNF212 variant, in the two brothers, as the genetic cause of non-obstructive azoospermia. Meiotic studies allowed the detection of the functional consequences of the mutations and provided information on the role of STAG3 and RNF212 in human male meiosis. 31125047
2018-09-08 11:01:00 The polymorphism of SNP rs4045481 in RNF212 gene might be associated with azoospermia and genotype CC of this SNP may be a risk factor of azoospermia. 29277047
2010-10-08 21:01:00 This paper describes a partial transcript of the human RNF212 gene. 15340062
2010-01-21 00:00:00 genome search identified sequence variants in the 4p16.3 region correlated with recombination rate in males & females; variants are located in the RNF212 gene, a putative ortholog of ZHP-3 gene essential for recombination & chiasma formation in C elegans 18239089
2009-08-12 21:34:00 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) 18239089

名称对应

Type IDs
Synonymous ZHP3
Gene
UniProtKB-ID: RN212_HUMAN
UniprotKB: Q495C1
UniParc: UPI00005764E4, UPI00005764E5, UPI00001C1E1C, UPI0000EF88B7, UPI000006EF28, UPI0002B8CC0B
EMBL: AK096160, BC101260, AC019103, BC050356, BC101258, AC092535, BC036250, BC101259, BC101261
Ensembl: ENSG00000178222
KO: hsa:285498
Nucleutide sequences
EMBL-CDS: AAI01260.1, AAH36250.2, AAI01259.1, AAI01262.1, AAH50356.2, BAC04714.1, AAI01261.1
Ensembl_TRS: ENST00000333673, ENST00000511620, ENST00000433731, ENST00000382968
Protein sequencees
Ensembl_PRO: ENSP00000426115, ENSP00000372428, ENSP00000327481, ENSP00000389709
RefSeq: XP_016863528.1, NP_001353847.1, XP_016863529.1, XP_011511747.1, XP_011511748.1, XP_016863530.1, NP_001124506.1, NP_001180247.1, NP_919420.1, XP_011511741.1, NP_001353848.1, XP_011511745.1
Others
UniRef100: UniRef100_Q495C1
UniRef90: UniRef90_Q495C1
UniRef50: UniRef50_Q495C1
UniGene: Hs.248290
CCDS: CCDS3345.1, CCDS54704.1, CCDS46996.1

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