POLR3B (RNA polymerase III subunit B)

2013-07-01  

Identity

HGNC
POLR3B
LOCATION
12q23.3
LOCUSID
55703
ALIAS
C128,HLD8,INMAP,RPC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55703
MIM: 614366
HGNC: 30348
Ensembl: ENSG00000013503

Variants:

dbSNP: 55703
ClinVar: 55703
TCGA: ENSG00000013503
COSMIC: POLR3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000013503ENST00000228347Q9NW08
ENSG00000013503ENST00000539066Q9NW08
ENSG00000013503ENST00000549569F8VRU2

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
RNA polymeraseKEGGko03020
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
RNA polymeraseKEGGhsa03020
Cytosolic DNA-sensing pathwayKEGGko04623
Cytosolic DNA-sensing pathwayKEGGhsa04623
Metabolic pathwaysKEGGhsa01100
RNA polymerase III, eukaryotesKEGGhsa_M00181
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
RNA polymerase III, eukaryotesKEGGM00181
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase III TranscriptionREACTOMER-HSA-74158
RNA Polymerase III Abortive And Retractive InitiationREACTOMER-HSA-749476
RNA Polymerase III Transcription InitiationREACTOMER-HSA-76046
RNA Polymerase III Transcription Initiation From Type 1 PromoterREACTOMER-HSA-76061
RNA Polymerase III Transcription Initiation From Type 2 PromoterREACTOMER-HSA-76066
RNA Polymerase III Transcription Initiation From Type 3 PromoterREACTOMER-HSA-76071
RNA Polymerase III Chain ElongationREACTOMER-HSA-73780
RNA Polymerase III Transcription TerminationREACTOMER-HSA-73980

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378974162023A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.0
378974162023A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.0
354369262022Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.1
354820042022Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.4
360426472022Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.1
354369262022Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.1
354820042022Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.4
360426472022Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.1
330059492021Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.19
334178872021De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.12
330059492021Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.19
334178872021De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.12
3231973620204H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.6
3231973620204H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.6
314055632019Deletion 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