Gene
polr3b
- ID
- ZDB-GENE-030131-2887
- Name
- polymerase (RNA) III (DNA directed) polypeptide B
- Symbol
- polr3b Nomenclature History
- Previous Names
-
- slj
- si:dkey-103i16.3
- slim jim
- wu:fc20h06
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to contribute to RNA polymerase III activity. Involved in digestive tract development; exocrine pancreas development; and tRNA transcription. Predicted to localize to RNA polymerase III complex. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism. Is expressed in intestine; liver; nervous system; and retina. Orthologous to human POLR3B (RNA polymerase III subunit B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypomyelinating leukodystrophy 8 | Alliance | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 614381 |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | 619742 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR007121 | RNA polymerase, beta subunit, conserved site |
| Domain | IPR007120 | DNA-directed RNA polymerase, subunit 2, hybrid-binding domain |
| Domain | IPR007641 | RNA polymerase Rpb2, domain 7 |
| Domain | IPR007642 | RNA polymerase Rpb2, domain 2 |
| Domain | IPR007644 | RNA polymerase, beta subunit, protrusion |
| Domain | IPR007645 | RNA polymerase Rpb2, domain 3 |
| Domain | IPR007646 | RNA polymerase Rpb2, domain 4 |
| Domain | IPR007647 | RNA polymerase Rpb2, domain 5 |
| Family | IPR015712 | DNA-directed RNA polymerase, subunit 2 |
| Homologous_superfamily | IPR014724 | RNA polymerase Rpb2, OB-fold |
| Homologous_superfamily | IPR037033 | DNA-directed RNA polymerase, subunit 2, hybrid-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | DNA-directed RNA polymerase, subunit 2 | DNA-directed RNA polymerase, subunit 2, hybrid-binding domain | DNA-directed RNA polymerase, subunit 2, hybrid-binding domain superfamily | RNA polymerase, beta subunit, conserved site | RNA polymerase, beta subunit, protrusion | RNA polymerase Rpb2, domain 2 | RNA polymerase Rpb2, domain 3 | RNA polymerase Rpb2, domain 4 | RNA polymerase Rpb2, domain 5 | RNA polymerase Rpb2, domain 7 | RNA polymerase Rpb2, OB-fold |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QQA2
|
1130 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available