GTF3C5 (general transcription factor IIIC subunit 5)

2014-11-01  

Identity

HGNC
GTF3C5
LOCATION
9q34.13
LOCUSID
9328
ALIAS
TFIIIC63,TFIIICepsilon,TFiiiC2-63
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9328
MIM: 604890
HGNC: 4668
Ensembl: ENSG00000148308

Variants:

dbSNP: 9328
ClinVar: 9328
TCGA: ENSG00000148308
COSMIC: GTF3C5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148308ENST00000342018Q5T7U1
ENSG00000148308ENST00000372097Q9Y5Q8
ENSG00000148308ENST00000372099H7BY84
ENSG00000148308ENST00000372108Q9Y5Q8
ENSG00000148308ENST00000435745H0Y5D2
ENSG00000148308ENST00000439697Q5T7U0
ENSG00000148308ENST00000440319Q5T7U4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
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

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
385205612024Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.0
385205612024Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.0
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

Citation

Dessen P

GTF3C5 (general transcription factor IIIC subunit 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64099/gtf3c5-(general-transcription-factor-iiic-subunit-5)