OTC (ornithine transcarbamylase)

2007-12-01  

Identity

HGNC
OTC
LOCATION
Xp11.4
LOCUSID
5009
ALIAS
OCTD,OTCD

Other Information

Locus ID:

NCBI: 5009
MIM: 300461
HGNC: 8512
Ensembl: ENSG00000036473

Variants:

dbSNP: 5009
ClinVar: 5009
TCGA: ENSG00000036473
COSMIC: OTC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000036473ENST00000039007P00480
ENSG00000036473ENST00000643344A0A2R8Y829

Expression (GTEx)

0
10
20
30
40
50
60
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
Arginine biosynthesisKEGGko00220
Arginine biosynthesisKEGGhsa00220
Metabolic pathwaysKEGGhsa01100
Urea cycleKEGGhsa_M00029
Urea cycleKEGGM00029
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Urea cycleREACTOMER-HSA-70635
Metabolism of polyaminesREACTOMER-HSA-351202

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166114316sodium phenylbutyrateChemicalLabelAnnotationassociated
PA166176020sodium benzoate / sodium phenylacetateChemicalLabelAnnotationassociated
PA451846valproic acidChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
384480192024[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].0
384480192024[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].0
368544092023[Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].0
371465892023The functional impact of 1,570 individual amino acid substitutions in human OTC.6
380784872023Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.0
368544092023[Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].0
371465892023The functional impact of 1,570 individual amino acid substitutions in human OTC.6
380784872023Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.0
356050462022A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.3
356050462022A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.3
333876642021Mitochondrial dysfunction as a mechanistic biomarker in patients with non-alcoholic fatty liver disease (NAFLD).26
336118232021Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study.2
338515122021Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.5
340151582021Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.4
349060672021OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies.2

Citation

Dessen P

OTC (ornithine transcarbamylase)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49879/haematological-explorer/gene-fusions-explorer/deep-insight-explorer/