HPSE2

Protein identityUniProt · HPA

UniProt accession

Q8WWQ2

Gene

HPSE2

Ensembl

ENSG00000172987

Chromosome

10

Canonical length

592 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

592 residues, UniProt reviewed canonical sequence.

>Q8WWQ2|HPSE2
     1  MRVLCAFPEA MPSSNSRPPA CLAPGALYLA LLLHLSLSSQ AGDRRPLPVD RAAGLKEKTL
    61  ILLDVSTKNP VRTVNENFLS LQLDPSIIHD GWLDFLSSKR LVTLARGLSP AFLRFGGKRT
   121  DFLQFQNLRN PAKSRGGPGP DYYLKNYEDD IVRSDVALDK QKGCKIAQHP DVMLELQREK
   181  AAQMHLVLLK EQFSNTYSNL ILTARSLDKL YNFADCSGLH LIFALNALRR NPNNSWNSSS
   241  ALSLLKYSAS KKYNISWELG NEPNNYRTMH GRAVNGSQLG KDYIQLKSLL QPIRIYSRAS
   301  LYGPNIGRPR KNVIALLDGF MKVAGSTVDA VTWQHCYIDG RVVKVMDFLK TRLLDTLSDQ
   361  IRKIQKVVNT YTPGKKIWLE GVVTTSAGGT NNLSDSYAAG FLWLNTLGML ANQGIDVVIR
   421  HSFFDHGYNH LVDQNFNPLP DYWLSLLYKR LIGPKVLAVH VAGLQRKPRP GRVIRDKLRI
   481  YAHCTNHHNH NYVRGSITLF IINLHRSRKK IKLAGTLRDK LVHQYLLQPY GQEGLKSKSV
   541  QLNGQPLVMV DDGTLPELKP RPLRAGRTLV IPPVTMGFYV VKNVNALACR YR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HPSE2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

30 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HPSE2.

Disease | AllUniProt

Conditions HPSE2 is implicated in, by any mechanism.

• Urofacial syndrome 1 (UFS1) MIM:236730

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 290 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Urofacial syndrome type 1
• Congenital anomaly of kidney and urinary tract
• Ochoa syndrome
• HPSE2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.69

gnomAD pLI

0

gnomAD missense Z

0.25

DepMap mean gene effect

0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell population proliferation
• extracellular matrix organization
• positive regulation of cell population proliferation

Molecular functions

• heparan sulfate proteoglycan binding
• heparanase activity

Cellular components

• extracellular matrix
• extracellular space
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Glycoside hydrolase, family 79
• Glycoside hydrolase superfamily
• Glycosyl hydrolase family 79, N-terminal domain

KeywordsUniProt

• Extracellular matrix
• Glycoprotein
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of HPSE2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HPSE
• SDC1