Hpse2 heparanase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hpse2provided by MGI
Official Full Name: heparanase 2provided by MGI
Primary source: MGI:MGI:2685814
See related: Ensembl:ENSMUSG00000074852 AllianceGenome:MGI:2685814
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hpa2; Gm968
Summary: Predicted to enable heparan sulfate proteoglycan binding activity. Acts upstream of or within extracellular matrix organization and positive regulation of cell population proliferation. Predicted to be located in extracellular region and membrane. Predicted to be active in extracellular matrix. Is expressed in bladder; brain; metanephros; and ureter. Used to study urofacial syndrome. Human ortholog(s) of this gene implicated in urofacial syndrome. Orthologous to human HPSE2 (heparanase 2 (inactive)). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bladder adult (RPKM 2.7), limb E14.5 (RPKM 1.2) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 36.57 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (42774980..43376913, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (42786541..43388476, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice with homozygous mutations in either Lrig2 or Hpse2 had increased nerve density within the urinary bladder body and decreased nerve density around the urinary outflow tract. Observations provide evidence that a peripheral neuropathy is central to the pathobiology of functional bladder outlet obstruction in urofacial syndrome and emphasize the importance of LRIG2 and Hpse2 for nerve patterning in the urinary tract.
Title: Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
Deletion of Hpse2 cause the urofacial syndrome-like phenotype in mice.
Title: A mouse model of urofacial syndrome with dysfunctional urination.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (2)

General gene information

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Markers

AI414725 (e-PCR)
- UniSTS:166153

MHAa70e12.seq (e-PCR)
- UniSTS:160834

NoName (e-PCR)
- UniSTS:237943

D19Dcr32 (e-PCR), detects polymorphism
- UniSTS:532352

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables heparan sulfate proteoglycan binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: inactive heparanase-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001081257.3 → NP_001074726.1 inactive heparanase-2 precursor

See identical proteins and their annotated locations for NP_001074726.1

Status: VALIDATED

Source sequence(s)

AC122312, AC124716, AC125458, AC140375

Consensus CDS

CCDS37993.1

UniProtKB/Swiss-Prot

B2RY83

Related

ENSMUSP00000097026.4, ENSMUST00000099428.5

Conserved Domains (1) summary

pfam03662
Location:208 → 408

Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

42774980..43376913 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527214.4 → XP_006527277.1 inactive heparanase-2 isoform X1

Conserved Domains (1) summary

pfam03662
Location:213 → 350

Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
XM_011247295.1 → XP_011245597.1 inactive heparanase-2 isoform X3

Conserved Domains (1) summary

pfam03662
Location:36 → 236

Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
XM_011247294.3 → XP_011245596.1 inactive heparanase-2 isoform X2

Conserved Domains (1) summary

pfam03662
Location:208 → 408

Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain