| Type | Description |
|---|---|
| Definition | RNA polymerase III subunit B |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:55:00 | De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. | 33417887 |
| 2020-06-06 11:10:00 | These results suggest that the deletion of INMAP block the formation of spindle, leading to arrest of cell cycle and DNA damage, finally blocking cell proliferation and inducing apoptosis. | 31405563 |
| 2019-11-16 12:07:00 | Three novel mutations of POLR3B c.727A>G (p.Met243Val) and c.2669G>A (p.Arg890His) (P1, P2), and c.1495G>A (p.Met499Val) (P3) were found | 31577365 |
| 2017-12-16 11:38:00 | Novel compound heterozygous variations in POLR3B were identified in a patient with cerebellar hypoplasia with endosteal sclerosis. | 28589944 |
| 2017-11-04 12:02:00 | The spectrum of phenotypes resulting from POLR3B mutations is wider than previously believed. | 27512013 |
| Type | IDs |
|---|---|
| Synonymous | C128, HLD8, INMAP, RPC2 |
| Gene |
UniProtKB-ID:
RPC2_HUMAN,
Q7Z3R8_HUMAN
UniprotKB:
Q9NW08,
Q7Z3R8
UniParc:
UPI0000D9CE93,
UPI000000DB67,
UPI00001A9991
EMBL:
CH471054,
BC046238,
AK001161,
BX537447,
AK291635,
AC078992,
AY092084,
AC009721,
AK122713,
AC080012,
AK001250
Ensembl:
ENSG00000013503
KO:
hsa:55703
|
| Nucleutide sequences |
EMBL-CDS:
BAA91527.1,
BAG53685.1,
AAH46238.1,
EAW97780.1,
BAA91581.1,
BAF84324.1,
AAM18214.1,
CAD97689.1
Ensembl_TRS:
ENST00000228347,
ENST00000539066
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000445721,
ENSP00000228347
RefSeq:
NP_060552.4,
NP_001154180.1,
XP_016875110.1
|
| Others |
UniRef100:
UniRef100_Q7Z3R8,
UniRef100_Q9NW08
UniRef90:
UniRef90_Q9NW08
UniRef50:
UniRef50_Q9NW08
UniGene:
Hs.62696,
Hs.610795
CCDS:
CCDS53824.1,
CCDS9105.1
|
| {{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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