Hspg2 perlecan (heparan sulfate proteoglycan 2) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hspg2provided by MGI
Official Full Name: perlecan (heparan sulfate proteoglycan 2)provided by MGI
Primary source: MGI:MGI:96257
See related: Ensembl:ENSMUSG00000028763 AllianceGenome:MGI:96257
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: Pcn; Plc; per; HSPG
Summary: Enables protease binding activity. Involved in receptor-mediated endocytosis. Acts upstream of or within several processes, including cardiac muscle tissue development; extracellular matrix organization; and skeletal system development. Located in basement membrane. Is expressed in several structures, including alimentary system; cardiovascular system; early conceptus; genitourinary system; and nervous system. Used to study Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; dextro-looped transposition of the great arteries; and thanatophoric dysplasia. Human ortholog(s) of this gene implicated in Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and osteochondrodysplasia. Orthologous to human HSPG2 (heparan sulfate proteoglycan 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in adrenal adult (RPKM 35.2), subcutaneous fat pad adult (RPKM 30.9) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 69.93 cM

Exon count:: 99

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (137196062..137297941)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (137468751..137570630)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Increased Risk of Aortic Dissection with Perlecan Deficiency.
Title: Increased Risk of Aortic Dissection with Perlecan Deficiency.
Is HSPG2 a modifier gene for Marfan syndrome?
Title: Is HSPG2 a modifier gene for Marfan syndrome?
Perlecan Knockdown Significantly Alters Extracellular Matrix Composition and Organization During Cartilage Development.
Title: Perlecan Knockdown Significantly Alters Extracellular Matrix Composition and Organization During Cartilage Development.
Trabecular Bone Deficit and Enhanced Anabolic Response to Re-Ambulation after Disuse in Perlecan-Deficient Skeleton.
Title: Trabecular Bone Deficit and Enhanced Anabolic Response to Re-Ambulation after Disuse in Perlecan-Deficient Skeleton.
Endorepellin evokes an angiostatic stress signaling cascade in endothelial cells.
Title: Endorepellin evokes an angiostatic stress signaling cascade in endothelial cells.
The Perlecan therefore appears to regulate pericyte recruitment through the cooperative functioning of PDGFRbeta and integrin alpha5beta1 to support BBB maintenance and repair following ischemic stroke.
Title: Perlecan regulates pericyte dynamics in the maintenance and repair of the blood-brain barrier.
Exostosis-like, ectopic bone formation occurred in Hspg2 exon 3 null intervertebral discs, and differences were evident in disc cell maturation and in matrix deposition in this genotype, indicating that perlecan HS/CS chains had cell and matrix interactive properties which repressively maintained tissue homeostasis in the adult intervertebral disc.
Title: Elevated hypertrophy, growth plate maturation, glycosaminoglycan deposition, and exostosis formation in the Hspg2 exon 3 null mouse intervertebral disc.
Monolayers of murine hip articular chondrocytes from C57BL/6 and Hspg2 exon 3 null mice also displayed pericellular perlecan localisations, however type XI collagen was only evident in the Wild type mice
Title: Type XI collagen-perlecan-HS interactions stabilise the pericellular matrix of annulus fibrosus cells and chondrocytes providing matrix stabilisation and homeostasis.
Confocal laser scanning microscopy co-localised perlecan with type VI collagen as pericellular components of intervertebral disc (IVD) cells and translamellar cross-bridges in ovine and murine IVDs.
Title: Pericellular colocalisation and interactive properties of type VI collagen and perlecan in the intervertebral disc.
Perlecan knockdown altered matrix organization and significantly decreased the stiffness of both chondrocytes and interstitial matrix as a function of age and genotype.
Title: Knockdown of the pericellular matrix molecule perlecan lowers in situ cell and matrix stiffness in developing cartilage.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Variation

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Alleles

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

Endonuclease-mediated (4)
Gene trapped (1)
Targeted (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hspg2 (e-PCR), detects polymorphism
- UniSTS:472865

NoName (e-PCR)
- UniSTS:548147

Hspg2 (e-PCR), detects polymorphism
- UniSTS:143412

AI852380 (e-PCR)
- UniSTS:179095

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables collagen V binding	ISO Inferred from Sequence Orthology more info
enables extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring compression resistance	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of amyloid fibril formation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor-mediated endocytosis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in receptor-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in tissue development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: basement membrane-specific heparan sulfate proteoglycan core protein

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_008305.4 → NP_032331.2 basement membrane-specific heparan sulfate proteoglycan core protein precursor

Status: VALIDATED

Source sequence(s)

BX000694, BX323857, CR450281

Consensus CDS

CCDS51333.1

UniProtKB/TrEMBL

B1B0C7, E9PZ16

Related

ENSMUSP00000131316.2, ENSMUST00000171332.2

Conserved Domains (18) summary

cd05743
Location:421 → 498

Ig_Perlecan_D2_like; Immunoglobulin (Ig)-like domain II (D2) of the human basement membrane heparan sulfate proteoglycan perlecan, also known as HSPG2

cd05754
Location:1770 → 1855

Ig3_Perlecan_like; Third immunoglobulin (Ig)-like domain found in Perlecan and similar proteins

smart00408
Location:2641 → 2700

IGc2; Immunoglobulin C-2 Type

smart00281
Location:1393 → 1516

LamB; Laminin B domain

smart00409
Location:413 → 490

IG; Immunoglobulin

smart00410
Location:3215 → 3291

IG_like; Immunoglobulin like

cd00054
Location:3841 → 3874

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:764 → 806

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:4196 → 4354

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd00112
Location:325 → 359

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam07679
Location:3572 → 3654

I-set; Immunoglobulin I-set domain

pfam00008
Location:4101 → 4131

EGF; EGF-like domain

pfam00047
Location:3023 → 3103

ig; Immunoglobulin domain

pfam00053
Location:1275 → 1322

Laminin_EGF; Laminin EGF domain

pfam00057
Location:283 → 319

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam13895
Location:2249 → 2325

Ig_2; Immunoglobulin domain

cl02507
Location:80 → 194

SEA; SEA domain

cl11960
Location:3577 → 3654

Ig; Immunoglobulin 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_000070.7 Reference GRCm39 C57BL/6J

Range

137196062..137297941

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253229.1 → XP_030109089.1 basement membrane-specific heparan sulfate proteoglycan core protein isoform X1

UniProtKB/TrEMBL

B1B0C7

Conserved Domains (18) summary

cd05743
Location:438 → 515

Ig_Perlecan_like; Immunoglobulin (Ig)-like domain of the human basement membrane heparan sulfate proteoglycan perlecan, also known as HSPG2, and similar domains

cd05754
Location:1787 → 1872

Ig_Perlecan_like; Igmmunoglobulin (Ig)-like domain found in Perlecan and similar proteins

smart00408
Location:2658 → 2717

IGc2; Immunoglobulin C-2 Type

smart00281
Location:607 → 733

LamB; Laminin B domain

smart00409
Location:3230 → 3306

IG; Immunoglobulin

smart00410
Location:1699 → 1779

IG_like; Immunoglobulin like

cd00054
Location:3856 → 3889

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:781 → 823

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:4211 → 4369

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd00112
Location:342 → 376

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

cd00096
Location:3327 → 3390

Ig; Immunoglobulin domain

pfam00008
Location:4116 → 4146

EGF; EGF-like domain

pfam00052
Location:1413 → 1545

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:1292 → 1339

Laminin_EGF; Laminin EGF domain

pfam00057
Location:300 → 336

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam07679
Location:3587 → 3669

I-set; Immunoglobulin I-set domain

cl02507
Location:80 → 194

SEA; SEA domain

cl11960
Location:2450 → 2535

Ig; Immunoglobulin domain
XM_006538575.2 → XP_006538638.1 basement membrane-specific heparan sulfate proteoglycan core protein isoform X2

UniProtKB/TrEMBL

B1B0C7

Related

ENSMUSP00000030547.9, ENSMUST00000030547.15

Conserved Domains (18) summary

cd05743
Location:421 → 498

Ig_Perlecan_like; Immunoglobulin (Ig)-like domain of the human basement membrane heparan sulfate proteoglycan perlecan, also known as HSPG2, and similar domains

cd05754
Location:1770 → 1855

Ig_Perlecan_like; Igmmunoglobulin (Ig)-like domain found in Perlecan and similar proteins

smart00408
Location:2641 → 2700

IGc2; Immunoglobulin C-2 Type

smart00281
Location:590 → 716

LamB; Laminin B domain

smart00409
Location:2829 → 2905

IG; Immunoglobulin

smart00410
Location:3213 → 3289

IG_like; Immunoglobulin like

cd00054
Location:3839 → 3872

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00055
Location:764 → 806

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00110
Location:4194 → 4352

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

cd00112
Location:325 → 359

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

cd00096
Location:3310 → 3373

Ig; Immunoglobulin domain

pfam00008
Location:4099 → 4129

EGF; EGF-like domain

pfam00052
Location:1396 → 1528

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:1275 → 1322

Laminin_EGF; Laminin EGF domain

pfam00057
Location:283 → 319

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam07679
Location:3570 → 3652

I-set; Immunoglobulin I-set domain

cl02507
Location:80 → 194

SEA; SEA domain

cl11960
Location:2433 → 2518

Ig; Immunoglobulin domain
XM_036163696.1 → XP_036019589.1 basement membrane-specific heparan sulfate proteoglycan core protein isoform X3

UniProtKB/TrEMBL

B1B0C7

Conserved Domains (17) summary

cd05743
Location:438 → 515

Ig_Perlecan_like; Immunoglobulin (Ig)-like domain of the human basement membrane heparan sulfate proteoglycan perlecan and similar proteins

smart00408
Location:2658 → 2717

IGc2; Immunoglobulin C-2 Type

smart00281
Location:607 → 733

LamB; Laminin B domain

smart00409
Location:1699 → 1779

IG; Immunoglobulin

smart00410
Location:2846 → 2922

IG_like; Immunoglobulin like

cd00055
Location:781 → 823

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00112
Location:342 → 376

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00052
Location:1413 → 1545

Laminin_B; Laminin B (Domain IV)

pfam00053
Location:1292 → 1339

Laminin_EGF; Laminin EGF domain

pfam00057
Location:300 → 336

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam07679
Location:3587 → 3669

I-set; Immunoglobulin I-set domain

pfam13927
Location:3223 → 3293

Ig_3; Immunoglobulin domain

cd00096
Location:3589 → 3592

Ig; Ig strand A [structural motif]

cd05754
Location:1787 → 1872

IgI_Perlecan_like; Immunoglobulin (Ig)-like domain found in Perlecan and similar proteins; member of the I-set of Ig superfamily (IgSF) domains

cl02507
Location:80 → 194

SEA; SEA domain

cl11960
Location:2450 → 2535

Ig; Immunoglobulin domain

cl22861
Location:3676 → 3721

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...