GENE NAME | POLR3B |
CHROMOSOME | 12 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000013503 |
UNIPROT ACCESSION NUMBER | Q9NW08 |
GO MOLECULAR FUNCTION | ["DNA-directed 5'-3' RNA polymerase activity", 'DNA binding', 'metal ion binding', 'ribonucleoside binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa03020; hsa04623; R-HSA-168249; R-HSA-168256; R-HSA-1834949; R-HSA-73780; R-HSA-73980; R-HSA-74158; R-HSA-74160; R-HSA-749476; R-HSA-76046; R-HSA-76061; R-HSA-76066; R-HSA-76071 |
2 combinations linked to POLR3B | OLI1383; OLI1394 |
3 variants linked to POLR3B | POLR3B:c.1244T>C, p.Met415Thr; POLR3B:c.2818-2A>T, ; POLR3B:c.2369T>G, p.Val790Gly |
2 diseases linked to POLR3B | Hypogonadotropic hypogonadism with partial puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype |