HPSE2 (heparanase 2 (inactive))

2007-02-01  

Identity

HGNC
HPSE2
LOCATION
10q24.2
LOCUSID
60495
ALIAS
HPA2,HPR2,UFS,UFS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 60495
MIM: 613469
HGNC: 18374
Ensembl: ENSG00000172987

Variants:

dbSNP: 60495
ClinVar: 60495
TCGA: ENSG00000172987
COSMIC: HPSE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172987ENST00000370546Q8WWQ2
ENSG00000172987ENST00000370549Q8WWQ2
ENSG00000172987ENST00000370552Q8WWQ2
ENSG00000172987ENST00000404542A0A0A0MSB9
ENSG00000172987ENST00000614306A0A087X238
ENSG00000172987ENST00000628193Q8WWQ2

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
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
Metabolic pathwaysKEGGhsa01100
Heparan sulfate degradationKEGGhsa_M00078
Heparan sulfate degradationKEGGM00078
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
HS-GAG degradationREACTOMER-HSA-2024096

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
157091682005Increased heparanase expression is caused by promoter hypomethylation and up-regulation of transcriptional factor early growth response-1 in human prostate cancer.49
213084792011The heparanase system and tumor metastasis: is heparanase the seed and soil?43
205602102010Mutations in HPSE2 cause urofacial syndrome.28
205602092010Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.21
180580842008Heparanase induces a differential loss of heparan sulphate domains in overt diabetic nephropathy.15
168793962006Heparanase expression in nasopharyngeal carcinoma inversely correlates with patient survival.11
270131932016Heparanase 2 Attenuates Head and Neck Tumor Vascularity and Growth.11
158377402005Heparanase expression at the invasion front of human head and neck cancers and correlation with poor prognosis.10

Citation

Dessen P

HPSE2 (heparanase 2 (inactive))

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46219/hpse2