Identity
HGNC
LOCATION
12q23.3
LOCUSID
ALIAS
C128,HLD8,INMAP,RPC2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55703
MIM: 614366
HGNC: 30348
Ensembl: ENSG00000013503
Variants:
dbSNP: 55703
ClinVar: 55703
TCGA: ENSG00000013503
COSMIC: POLR3B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000013503 | ENST00000228347 | Q9NW08 |
| ENSG00000013503 | ENST00000539066 | Q9NW08 |
| ENSG00000013503 | ENST00000549569 | F8VRU2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37897416 | 2023 | A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers. | 0 |
| 37897416 | 2023 | A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers. | 0 |
| 35436926 | 2022 | Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery. | 1 |
| 35482004 | 2022 | Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. | 4 |
| 36042647 | 2022 | Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister. | 1 |
| 35436926 | 2022 | Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery. | 1 |
| 35482004 | 2022 | Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. | 4 |
| 36042647 | 2022 | Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister. | 1 |
| 33005949 | 2021 | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. | 19 |
| 33417887 | 2021 | De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. | 12 |
| 33005949 | 2021 | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. | 19 |
| 33417887 | 2021 | De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. | 12 |
| 32319736 | 2020 | 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. | 6 |
| 32319736 | 2020 | 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. | 6 |
| 31405563 | 2019 | Deletion of INMAP postpones mitotic exit and induces apoptosis by disabling the formation of mitotic spindle. | 1 |
Citation
Dessen P
POLR3B (RNA polymerase III subunit B)
Atlas Genet Cytogenet Oncol Haematol. 2013-07-01
Online version: http://atlasgeneticsoncology.org/gene/53461/polr3b-(rna-polymerase-iii-subunit-b)
