HPSE2 - heparanase 2 (inactive) Gene

Also Known as UFS; HPA2; HPR2; UFS1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 60495

About HPSE2

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:98,457,077-99,315,951 (from NCBI)

This gene has 6 transcripts (splice variants), 93 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in esophagus (RPKM 5.3), prostate (RPKM 4.1) and 13 other tissues.

Summary

This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

HPSE2 Products (4)

mRNA Protein Name
NM_001166244.1 NP_001159716.1 inactive heparanase-2 isoform 2
NM_001166245.1 NP_001159717.1 inactive heparanase-2 isoform 3
NM_001166246.1 NP_001159718.1 inactive heparanase-2 isoform 4
NM_021828.5 NP_068600.4 inactive heparanase-2 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables heparan sulfate proteoglycan binding IDA
IDA: Inferred from direct assay
20576607 GOA
NOT enables heparanase activity IDA
IDA: Inferred from direct assay
20576607 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular matrix IDA
IDA: Inferred from direct assay
20576607 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HPSE2 Protein Structure

Glyco_hydro_79n

Glyco_hydro_79n: Glycosyl hydrolase family 79, N-terminal domain (196 - 408)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 592 a.a.
Protein Preferred Names Protein Names

inactive heparanase-2

  • heparanase 3

Related Diseases

Diseases Alias
Urofacial Syndrome 1
  • Urofacial Syndrome

  • Ochoa Syndrome

  • Hydronephrosis With Peculiar Facial Expression

  • Ufs

  • Inverted Smile And Occult Neuropathic Bladder

  • Partial Facial Palsy With Urinary Abnormalities

  • UFS1

  • Urofacial Ochoa'S Syndrome

  • Urofacial Syndrome Type 1

  • Facial Palsy, Partial, With Urinary Abnormalities

  • Hydronephrosis-Inverted Smile

  • Inverted Smile-Neurogenic Bladder

  • Hydronephrosis-Inverted Smile Syndrome

  • Inverted Smile-Neurogenic Bladder Syndrome

  • Partial Facial Palsy Partial With Urinary Abnormalities

  • Urologic Diseases

Cakut
  • Renal Or Urinary Tract Malformation

  • Congenital Anomalies Of Kidney And Urinary Tract

  • Congenital Anomaly Of Kidney And Urinary Tract

  • Congenital Anomalies Of The Kidney And Urinary Tract

  • Kidney And Urinary Tract, Anomalies, Congenital

  • Renal Hypodysplasia, Nonsyndromic, 1

Lagophthalmos
  • Defective Lid Closure

  • Poor Closure Eyelids

Prune Belly Syndrome
  • Eagle-Barrett Syndrome

  • Abdominal Muscle Deficiency Syndrome

  • PBS

  • Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism

  • Egbrs

  • Eagle-Barret Syndrome

  • Urethral Obstruction Sequence

  • Obrinsky Syndrome

  • Triad Syndrome

  • Obrisnksy Syndrome

  • Euos

  • Early Urethral Obstruction Sequence

  • Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction

  • Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism

  • Abdomen Muscle Deficiency Syndrome

  • Abdomen Muscular Deficiency Syndrome

  • Abdominal Muscular Deficiency Syndrome

  • Abdominal Muscle Aplasia Syndrome

Li-Fraumeni Syndrome 1
  • Lfs1

Neurogenic Bladder
  • Neurogenic Dysfunction Of The Urinary Bladder

  • Neurogenic Urinary Bladder Disorder

  • Neuropathic Bladder

  • Bladder Neurogenic

  • Urinary Bladder, Neurogenic

  • Neurogenic Urinary Bladder

Corpus Callosum, Agenesis Of, With Abnormal Genitalia
  • Proud Syndrome

  • Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

  • Acc With Abnormal Genitalia

  • Proud-Levine-Carpenter Syndrome

  • Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome

  • Corpus Callosum Agenesis With Abnormal Genitalia

  • New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum

  • Proud Levine Carpenter Syndrome

  • Acc-Abnormal Genitalia Syndrome

  • Agenesis Of The Corpus Callosum, With Abnormal Genitalia

  • ACCAG

  • Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia

  • Congenital Neurologic Anomalies

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  • Berdon Syndrome

  • MMIHS

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Megacystis, Microcolon, Hypoperistalsis Syndrome

  • Visceral Myopathy

  • Mmih Syndrome

  • Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

  • MMIHS1

  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

  • Mmhs

Vesicoureteral Reflux
  • Vesico-Ureteral Reflux

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus HPSE2 RGD RGD:1307959
Macaca mulatta HPSE2 VGNC VGNC:106058
Mus musculus HPSE2 MGD MGI:2685814
Others HPSE2 NCBI