Gene: POLR3B

Alternate names for this Gene: C128|HLD8|INMAP|RPC2

Gene Summary: This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.3

Description of this Gene: RNA polymerase III subunit B

Type of Gene: protein-coding

rs3851634 in POLR3B gene and Central Nervous System Neoplasms PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs11112992 in POLR3B gene and Coronary heart disease PMID 23364394 2013 A genome-wide association study of a coronary artery disease risk variant.

rs3851634 in POLR3B gene and Glioblastoma PMID 26424050 2015 After genotyping an additional 1,490 cases and 1,723 controls we identify new risk loci for glioblastoma (GBM) at 12q23.33 (rs3851634, near POLR3B, P=3.02 × 10(-9)) and non-GBM at 10q25.2 (rs11196067, near VTI1A, P=4.32 × 10(-8)), 11q23.2 (rs648044, near ZBTB16, P=6.26 × 10(-11)), 12q21.2 (rs12230172, P=7.53 × 10(-11)) and 15q24.2 (rs1801591, near ETFA, P=5.71 × 10(-9)).

rs3851634 in POLR3B gene and Glioblastoma Multiforme PMID 26424050 2015 After genotyping an additional 1,490 cases and 1,723 controls we identify new risk loci for glioblastoma (GBM) at 12q23.33 (rs3851634, near POLR3B, P=3.02 × 10(-9)) and non-GBM at 10q25.2 (rs11196067, near VTI1A, P=4.32 × 10(-8)), 11q23.2 (rs648044, near ZBTB16, P=6.26 × 10(-11)), 12q21.2 (rs12230172, P=7.53 × 10(-11)) and 15q24.2 (rs1801591, near ETFA, P=5.71 × 10(-9)).

rs3851634 in POLR3B gene and Glioma PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs1442212683 in POLR3B gene and LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM PMID 22036172 2011 Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

PMID 22036171 2011 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

PMID 23355746 2013 Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

rs11113011 in POLR3B gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.