ENSG00000172987


Homo sapiens

Features
Gene ID: ENSG00000172987
  
Biological name :HPSE2
  
Synonyms : heparanase 2 (inactive) / HPSE2 / Q8WWQ2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q24.2
Gene start: 98457077
Gene end: 99235862
  
Corresponding Affymetrix probe sets: 220927_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000384384
Ensembl peptide - ENSP00000359583
Ensembl peptide - ENSP00000484672
Ensembl peptide - ENSP00000485916
Ensembl peptide - ENSP00000359577
Ensembl peptide - ENSP00000359580
NCBI entrez gene - 60495     See in Manteia.
OMIM - 613469
RefSeq - XM_017016498
RefSeq - XM_006717937
RefSeq - XM_011540029
RefSeq - XM_011540030
RefSeq - XM_011540031
RefSeq - XM_011540033
RefSeq - XM_017016495
RefSeq - XM_017016497
RefSeq - NM_001166244
RefSeq - NM_001166245
RefSeq - NM_001166246
RefSeq - NM_021828
RefSeq Peptide - NP_068600
RefSeq Peptide - NP_001159716
RefSeq Peptide - NP_001159717
RefSeq Peptide - NP_001159718
swissprot - Q8WWQ2
swissprot - A0A0A0MSB9
swissprot - A0A087X238
Ensembl - ENSG00000172987
  
Related genetic diseases (OMIM): 236730 - Urofacial syndrome 1, 236730
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Hpse2ENSMUSG00000074852Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HPSE / Q9Y251 / heparanaseENSG0000017308341


Protein motifs (from Interpro)
Interpro ID Name
 IPR005199  Glycoside hydrolase, family 79
 IPR017853  Glycoside hydrolase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006027 glycosaminoglycan catabolic process TAS
 biological_processGO:0008150 biological_process ND
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0030198 extracellular matrix organization IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005622 intracellular TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0030305 heparanase activity TAS
 molecular_functionGO:0043395 heparan sulfate proteoglycan binding IDA


Pathways (from Reactome)
Pathway description
HS-GAG degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000126 Hydronephrosis 
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 HP:0000796 Urethral obstruction 
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 HP:0000805 Enuresis "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001959 Polydipsia 
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 HP:0001999 Facial dysmorphism 
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 HP:0002019 Constipation 
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 HP:0002607 Bowel incontinence 
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 HP:0005346 Abnormal facial expression 
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 HP:0010481 Urethral valve "The presence of an abnormal membrane obstructing the urethera." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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