OTC (ornithine transcarbamylase)

2007-12-01 Affiliation

Identity

HGNC

OTC

LOCATION

Xp11.4

LOCUSID

5009

ALIAS

OCTD,OTCD

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000036473	ENST00000039007	P00480
ENSG00000036473	ENST00000643344	A0A2R8Y829

Expression (GTEx)

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

Pathway	Source	External ID
Arginine biosynthesis	KEGG	ko00220
Arginine biosynthesis	KEGG	hsa00220
Metabolic pathways	KEGG	hsa01100
Urea cycle	KEGG	hsa_M00029
Urea cycle	KEGG	M00029
Biosynthesis of amino acids	KEGG	hsa01230
Biosynthesis of amino acids	KEGG	ko01230
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Urea cycle	REACTOME	R-HSA-70635
Metabolism of polyamines	REACTOME	R-HSA-351202

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA166114316	sodium phenylbutyrate	Chemical	LabelAnnotation	associated
PA166176020	sodium benzoate / sodium phenylacetate	Chemical	LabelAnnotation	associated
PA451846	valproic acid	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
16786505	2006	Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.	41
11793468	2002	Mutations and polymorphisms in the human ornithine transcarbamylase gene.	22
26059767	2015	Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.	21
19138872	2009	High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.	17
19138872	2009	High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.	17
17893704	2009	Evidence for induction of the ornithine transcarbamylase expression in Alzheimer's disease.	10
18204299	2007	Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.	9
19475717	2009	Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene.	9
19359120	2009	Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.	7
21956151	2011	Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.	7

Citation

Dessen P

OTC (ornithine transcarbamylase)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49879/otc