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Details on Person UniProt:Q8WWQ2 HPSE2

Class:IdReferenceGeneProduct:232158
_chainChangeLogsignal peptide:1-41 added on Fri February 6 2015;chain:42-592 added on Fri February 6 2015
_displayNameUniProt:Q8WWQ2 HPSE2
_timestamp2025-05-21 21:12:20
chainsignal peptide:1-41
chain:42-592
checksum95C384AD9A6C868E
commentFUNCTION Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).SUBUNIT Interacts with HPSE. Interacts with SDC1 (via glycan chains).SUBCELLULAR LOCATION Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal cord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen and pons. In the urinary bladder, expressed in longitudinal and circular layers of detrusor muscle. Found both in normal and cancer tissues.DEVELOPMENTAL STAGE Expressed in the developing forebrain, diencephalon, midbrain, hind brain and spinal cord at Carnagie stage 16 (CS16, 6 weeks of gestation) and CS21 (8 weeks).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the glycosyl hydrolase 79 family.
created[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
descriptionrecommendedName: Inactive heparanase-2 shortName: Hpa2
geneNameHPSE2
HPA2
identifierQ8WWQ2
isSequenceChangedFALSE
keywordAlternative splicing
Extracellular matrix
Glycoprotein
Proteomics identification
Reference proteome
Secreted
Signal
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
nameHPSE2
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8990171] ENSEMBL:ENSG00000172987 HPSE2 [Homo sapiens]
secondaryIdentifierHPSE2_HUMAN
Q5VUH4
Q5VUH5
Q5VUH6
Q8WWQ1
Q9HB37
Q9HB38
Q9HB39
sequenceLength592
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:232159] UniProt:Q8WWQ2-2 HPSE2 [Homo sapiens]
[ReferenceIsoform:232160] UniProt:Q8WWQ2-3 HPSE2 [Homo sapiens]
[ReferenceIsoform:232161] UniProt:Q8WWQ2-4 HPSE2 [Homo sapiens]
[ReferenceIsoform:412139] UniProt:Q8WWQ2-1 HPSE2 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:1678680] HPSE2(1-592) [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:3700915] HPSE2 L81Afs*9 [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:3700937] HPSE2 1465delAA [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:3700968] HPSE2 R506* [plasma membrane] [Homo sapiens]
(referenceSequence)[NonsenseMutation:3700847] Nonsense mutation at L-arginine 506
[ReplacedResidue:3700855] L-isoleucine 87 replaced with L-histidine
[ReplacedResidue:3700876] L-serine 86 replaced with L-histidine
[ReplacedResidue:3700877] L-isoleucine 88 replaced with L-serine
[ReplacedResidue:3700883] L-leucine 83 replaced with glycine
[ReplacedResidue:3700887] L-glutamine 82 replaced with L-alanine
[FragmentDeletionModification:3700890] Deletion of residues 1465 to 1466
[ReplacedResidue:3700895] L-leucine 81 replaced with L-alanine
[ReplacedResidue:3700926] L-aspartic acid 84 replaced with L-serine
[ReplacedResidue:3700962] L-proline 85 replaced with L-valine
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No pathways have been reviewed or authored by UniProt:Q8WWQ2 HPSE2 (232158)