| Type | Description |
|---|---|
| Definition | transmembrane protein 230 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-12 16:00:00 | Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy. | 31323517 |
| 2019-07-20 12:58:00 | No pathogenic TMEM230 variants were detect in patient with multiple system atrophy. | 30056200 |
| 2019-04-20 11:38:00 | The findings of this study suggested that TMEM230 mutations may not play a role in the development of familial Parkinson's disease. | 29305083 |
| 2019-02-16 10:49:00 | TMEM230 mutations are very rare in the autosomal dominant inherited Parkinson's disease Han Chinese population. | 28455698 |
| 2018-12-01 10:04:00 | Findings suggest that the incidence of pathogenic variations in TMEM230 is very low and, therefore, TMEM230 do not play a major role in familial and sporadic Parkinson's disease patients in southern Spanish population which can have important implication in clinical investigation. | 29771939 |
| Type | IDs |
|---|---|
| Synonymous | C20orf30, HSPC274, dJ1116H23.2.1 |
| Gene |
UniProtKB-ID:
TM230_HUMAN,
A0A087WTT2_HUMAN
UniprotKB:
Q96A57,
A0A087WTT2
UniParc:
UPI00000361DD,
UPI0000470ABB,
UPI0001892593
EMBL:
AF161392,
AY359115,
AL121924,
AL121890,
BC009768,
BC009769,
BC070212,
AK315606,
BC009770,
BC015113,
BC110408,
CH471133,
BC011990
Ensembl:
ENSG00000089063
KO:
hsa:29058
|
| Nucleutide sequences |
EMBL-CDS:
AAH09770.1,
AAH70212.1,
AAH09768.1,
AAH15113.1,
EAX10434.1,
EAX10437.1,
BAG37975.1,
EAX10431.1,
EAX10433.1,
AAH11990.1,
AAI10409.2,
AAH09769.1,
EAX10432.1,
AAQ89473.1,
AAF28952.1
Gene_ORFName:
HSPC274,
UNQ2432/PRO4992
Ensembl_TRS:
ENST00000342308,
ENST00000379286,
ENST00000379277,
ENST00000379299,
ENST00000379283,
ENST00000202834,
ENST00000379279,
ENST00000612323,
ENST00000615008
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000368585,
ENSP00000341364,
ENSP00000368588,
ENSP00000202834,
ENSP00000368579,
ENSP00000368601,
ENSP00000368581,
ENSP00000478641,
ENSP00000478112
RefSeq:
NP_001009925.1,
NP_001009923.1,
NP_001317916.1,
NP_001009924.1,
XP_016883325.1,
NP_001317913.1,
NP_001317914.1,
XP_024307647.1,
NP_054864.3,
NP_001317915.1
|
| Others |
UniRef100:
UniRef100_Q96A57,
UniRef100_A0A087WTT2
UniRef90:
UniRef90_Q96A57,
UniRef90_A0A087WTT2
UniRef50:
UniRef50_Q96A57
UniGene:
Hs.472024
CCDS:
CCDS13086.1,
CCDS33438.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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