HGD (homogentisate 1,2-dioxygenase)

2014-11-01  

Identity

HGNC
HGD
LOCATION
3q13.33
LOCUSID
3081
ALIAS
AKU,HGO
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3081
MIM: 607474
HGNC: 4892
Ensembl: ENSG00000113924

Variants:

dbSNP: 3081
ClinVar: 3081
TCGA: ENSG00000113924
COSMIC: HGD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113924ENST00000283871Q93099
ENSG00000113924ENST00000475447H7C4R8
ENSG00000113924ENST00000476082C9JTX9
ENSG00000113924ENST00000492108H7C5G7
ENSG00000113924ENST00000494453H7C576

Expression (GTEx)

0
50
100
150
200
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
Tyrosine metabolismKEGGko00350
Tyrosine metabolismKEGGhsa00350
Metabolic pathwaysKEGGhsa01100
Tyrosine degradation, tyrosine => homogentisateKEGGM00044
Tyrosine degradation, tyrosine => homogentisateKEGGhsa_M00044
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Phenylalanine and tyrosine catabolismREACTOMER-HSA-71182
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

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
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
217208732011An update on molecular genetics of Alkaptonuria (AKU).26
258043982016Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.25
198628422009Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.15
221053032012Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.12
307374802019Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.6
160854422006Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.3
233537762013First report of HGD mutations in a Chinese with alkaptonuria.3
245757912014Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.3
128728362003Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.2

Citation

Dessen P

HGD (homogentisate 1,2-dioxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64252/hgd