Type | Description |
---|---|
Definition | ring finger protein 212 |
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 |
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
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
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Refseq |
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