| Type | Description |
|---|---|
| Definition | elaC ribonuclease Z 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:11:00 | A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer. | 32592348 |
| 2020-03-14 10:06:00 | Our study thus broadly confirms the correlation of ELAC2 variants with severe infantile-onset forms of HCM and mitochondrial respiratory chain dysfunction. | 31045291 |
| 2018-08-18 10:10:00 | This study describes the cardiac phenotype and outcome of ELAC2 mutation in Infantile Cardiomyopathy | 28441660 |
| 2018-01-06 10:05:00 | ELAC2 rs11545302 polymorphism was associated with PSA > 20 and rs4792311 was associated with TNM > 2. | 27318894 |
| 2017-11-11 13:21:00 | A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement | 27769300 |
| Type | IDs |
|---|---|
| Synonymous | COXPD17, ELC2, HPC2 |
| Gene |
UniProtKB-ID:
RNZ2_HUMAN,
A0A0S2Z5M8_HUMAN
UniprotKB:
Q9BQ52,
A0A0S2Z5M8
UniParc:
UPI00001C0A43,
UPI000004A07E,
UPI00017A79E7,
UPI00001C0A81
EMBL:
AF304369,
AK125030,
BC001939,
BC004158,
KU178737,
CR457261,
AF304370,
CH471108,
AK298397,
AC005277,
AK124838,
AK001392
Ensembl:
ENSG00000006744
KO:
hsa:60528
|
| Nucleutide sequences |
EMBL-CDS:
AAH01939.1,
CAG33542.1,
BAC86026.1,
AAG24441.1,
AAH04158.1,
AAG24440.1,
BAC85964.1,
BAG60631.1,
EAW89962.1,
ALQ34195.1
Gene_ORFName:
hCG_29734
Ensembl_TRS:
ENST00000338034,
ENST00000426905
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000337445,
ENSP00000405223
RefSeq:
XP_024306620.1,
NP_060597.4,
XP_024306623.1,
XP_024306630.1,
XP_024306622.1,
XP_024306629.1,
XP_024306621.1,
XP_024306627.1,
XP_024306618.1,
XP_024306619.1,
XP_024306625.1,
XP_024306626.1,
XP_024306624.1,
NP_001159434.1,
NP_776065.1,
XP_024306628.1
|
| Others |
UniRef100:
UniRef100_Q9BQ52
UniRef90:
UniRef90_Q9BQ52
UniRef50:
UniRef50_Q9BQ52
UniGene:
Hs.434232
CCDS:
CCDS54093.1,
CCDS11164.1
|