Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	60495
Gene name Gene Name - the full gene name approved by the HGNC.	Heparanase 2 (inactive)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HPSE2
Synonyms (NCBI Gene) Gene synonyms aliases	HPA2, HPR2, UFS, UFS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	UFS1
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.2
Summary Summary of gene provided in NCBI Entrez 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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs267606864	G>A,C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs267606865	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant, intron variant
rs267606866	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, intron variant
rs397515338	TT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs397515452	T>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs778121647	->G	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs1469962264	AG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, non coding transcript variant

Show/Hide all(87)

miRTarBase ID	miRNA	Experiments
MIRT1054377	hsa-miR-1266	CLIP-seq
MIRT1054378	hsa-miR-15a	CLIP-seq
MIRT1054379	hsa-miR-15b	CLIP-seq
MIRT1054380	hsa-miR-16	CLIP-seq
MIRT1054381	hsa-miR-195	CLIP-seq
MIRT1054382	hsa-miR-204	CLIP-seq
MIRT1054383	hsa-miR-211	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054385	hsa-miR-3127-5p	CLIP-seq
MIRT1054386	hsa-miR-3613-3p	CLIP-seq
MIRT1054387	hsa-miR-3616-3p	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054389	hsa-miR-3918	CLIP-seq
MIRT1054390	hsa-miR-3944-3p	CLIP-seq
MIRT1054391	hsa-miR-424	CLIP-seq
MIRT1054392	hsa-miR-4287	CLIP-seq
MIRT1054393	hsa-miR-4436b-3p	CLIP-seq
MIRT1054394	hsa-miR-4469	CLIP-seq
MIRT1054395	hsa-miR-4518	CLIP-seq
MIRT1054396	hsa-miR-451b	CLIP-seq
MIRT1054397	hsa-miR-4649-3p	CLIP-seq
MIRT1054398	hsa-miR-4685-3p	CLIP-seq
MIRT1054399	hsa-miR-4690-5p	CLIP-seq
MIRT1054400	hsa-miR-4721	CLIP-seq
MIRT1054401	hsa-miR-497	CLIP-seq
MIRT1054402	hsa-miR-510	CLIP-seq
MIRT1054403	hsa-miR-548ae	CLIP-seq
MIRT1054404	hsa-miR-548aj	CLIP-seq
MIRT1054405	hsa-miR-548am	CLIP-seq
MIRT1054406	hsa-miR-548x	CLIP-seq
MIRT1054407	hsa-miR-578	CLIP-seq
MIRT1054408	hsa-miR-720	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT1054410	hsa-miR-1283	CLIP-seq
MIRT1054411	hsa-miR-182	CLIP-seq
MIRT1054412	hsa-miR-3136-3p	CLIP-seq
MIRT1054413	hsa-miR-3166	CLIP-seq
MIRT1054414	hsa-miR-328	CLIP-seq
MIRT1054415	hsa-miR-3667-5p	CLIP-seq
MIRT1054416	hsa-miR-3678-3p	CLIP-seq
MIRT1054417	hsa-miR-4468	CLIP-seq
MIRT1054418	hsa-miR-4470	CLIP-seq
MIRT1054419	hsa-miR-4771	CLIP-seq
MIRT1054420	hsa-miR-499a-5p	CLIP-seq
MIRT1054421	hsa-miR-520d-5p	CLIP-seq
MIRT1054422	hsa-miR-524-5p	CLIP-seq
MIRT1054423	hsa-miR-576-3p	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT1054399	hsa-miR-4690-5p	CLIP-seq
MIRT1054378	hsa-miR-15a	CLIP-seq
MIRT1054379	hsa-miR-15b	CLIP-seq
MIRT1054380	hsa-miR-16	CLIP-seq
MIRT1054381	hsa-miR-195	CLIP-seq
MIRT1054391	hsa-miR-424	CLIP-seq
MIRT1054401	hsa-miR-497	CLIP-seq
MIRT1054378	hsa-miR-15a	CLIP-seq
MIRT1054379	hsa-miR-15b	CLIP-seq
MIRT1054380	hsa-miR-16	CLIP-seq
MIRT1054381	hsa-miR-195	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054391	hsa-miR-424	CLIP-seq
MIRT1054393	hsa-miR-4436b-3p	CLIP-seq
MIRT2244679	hsa-miR-4530	CLIP-seq
MIRT1054399	hsa-miR-4690-5p	CLIP-seq
MIRT1054401	hsa-miR-497	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT2547617	hsa-miR-1909	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT2547618	hsa-miR-2392	CLIP-seq
MIRT2547619	hsa-miR-338-3p	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT2547620	hsa-miR-3675-5p	CLIP-seq
MIRT2547621	hsa-miR-4492	CLIP-seq
MIRT2547622	hsa-miR-4498	CLIP-seq
MIRT2244679	hsa-miR-4530	CLIP-seq
MIRT2547623	hsa-miR-486-3p	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq
MIRT2547624	hsa-miR-762	CLIP-seq
MIRT1054384	hsa-miR-214	CLIP-seq
MIRT1054388	hsa-miR-3619-5p	CLIP-seq
MIRT1054409	hsa-miR-761	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
BTF3	Activation	17312387

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	TAS
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS
GO:0008150	Process	Biological_process	ND
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030305	Function	Heparanase activity	IDA	20576607
GO:0030305	Function	Heparanase activity	TAS	11027606
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031012	Component	Extracellular matrix	IDA	20576607
GO:0043395	Function	Heparan sulfate proteoglycan binding	IDA	20576607

MIM	HGNC	e!Ensembl
613469	18374	ENSG00000172987

Protein

UniProt ID

Q8WWQ2

Protein name

Inactive heparanase-2 (Hpa2)

Protein function

Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03662	Glyco_hydro_79n	169 → 408	Glycosyl hydrolase family 79, N-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: 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 oblo

Sequence

MRVLCAFPEAMPSSNSRPPACLAPGALYLALLLHLSLSSQAGDRRPLPVDRAAGLKEKTL
ILLDVSTKNPVRTVNENFLSLQLDPSIIHDGWLDFLSSKRLVTLARGLSPAFLRFGGKRT
DFLQFQNLRNPAKSRGGPGPDYYLKNYEDDIVRSDVALDKQKGCKIAQHPDVMLELQREK
AAQMHLVLLKEQFSNTYSNLILTARSLDKLYNFADCSGLHLIFALNALRRNPNNSWNSSS
ALSLLKYSASKKYNISWELGNEPNNYRTMHGRAVNGSQLGKDYIQLKSLLQPIRIYSRAS
LYGPNIGRPRKNVIALLDGFMKVAGSTVDAVTWQHCYIDGRVVKVMDFLKTRLLDTLSDQ
IRKIQKVVNTYTPGKKIWLEGVVTTSAGGTNNLSDSYAAGFLWLNTLGMLANQGIDVVIR
HSFFDHGYNHLVDQNFNPLPDYWLSLLYKRLIGPKVLAVHVAGLQRKPRPGRVIRDKLRI
YAHCTNHHNHNYVRGSITLFIINLHRSRKKIKLAGTLRDKLVHQYLLQPYGQEGLKSKSV
QLNGQPLVMVDDGTLPELKPRPLRAGRTLVIPPVTMGFYVVKNVNALACRYR

Sequence length

592

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan degradation Metabolic pathways Proteoglycans in cancer		HS-GAG degradation

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	21980299
Hypertension	Hypertensive disease	rs13306026
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Migraine	Migraine Disorders	rs794727411	27322543
Renal insufficiency	Renal Insufficiency	rs1596536873
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (5)

Disease term	Disease name	References	Source
Unknown
Asthma	Childhood asthma, Asthma	23829686	ClinVar, GWAS
Urofacial Syndrome	urofacial syndrome type 1		GenCC
Ochoa Syndrome	Ochoa syndrome		GenCC
Neuroticism	Neuroticism		GWAS
Diabetes	Diabetes		GWAS

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	40419521
Bone Diseases	Inhibit	36980254
Bone Diseases	Associate	36980254
Breast Neoplasms	Associate	26084486
Breast Neoplasms	Stimulate	30922347
Cakut	Associate	27151922
Cerebral Infarction	Associate	18383324
Colorectal Neoplasms	Associate	33663522
Depressive Disorder	Associate	34972135
Disease	Associate	36980254
Fowler Christmas Chapple syndrome	Associate	20560210
Head and Neck Neoplasms	Stimulate	20576607
Hypoxia	Stimulate	34808335
Kidney Diseases	Associate	27151922
Leukemia	Associate	18616802
Leukemia Myeloid Acute	Associate	18616802
Multiple Myeloma	Associate	36980254
Neoplasm Metastasis	Inhibit	20576607
Neoplasms	Associate	17312387, 25423319, 26084486, 26488476
Neoplasms	Inhibit	33663522, 34808335
Renal Hypodysplasia Nonsyndromic 1	Associate	20560210
Syndrome	Associate	27151922
Thrombocytopenia Neonatal Alloimmune	Associate	11370330, 23865077
Thyroid Neoplasms	Stimulate	26488476
Transfusion Reaction	Associate	23865077
Urofacial syndrome	Associate	20560209, 20560210, 21450525, 23313374

HPSE2 (heparanase 2 (inactive))