HSPG2 - heparan sulfate proteoglycan 2 Gene

Also Known as PLC; SJA; SJS; HSPG; SJS1; PRCAN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3339

About HSPG2

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:21,822,244-21,937,310 (from NCBI)

This gene has 15 transcripts (splice variants), 166 orthologues, 27 paralogues and is associated with 7 phenotypes. Broad expression in fat (RPKM 67.9), gall bladder (RPKM 21.5) and 21 other tissues.

Summary

This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, Collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of Other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

HSPG2 Products (2)

mRNA	Protein	Name
NM_001291860.2	NP_001278789.1	basement membrane-specific heparan sulfate proteoglycan core protein isoform a precursor
NM_005529.7	NP_005520.4	basement membrane-specific heparan sulfate proteoglycan core protein isoform b precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11956183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of amyloid fibril formation	IGI IGI: Inferred from genetic interaction	21126803	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSPG2 Protein Structure

Ldl_recept_a

I-set

Laminin_B

Laminin_EGF

Laminin_B

Laminin_EGF

Laminin_B

Laminin_EGF

Ig_2

I-set

Ig_2

I-set

Laminin_G_2

EGF

Laminin_G_1

EGF

Laminin_G_1

0
700
1400
2100
2800
3500
4391 a.a.

Protein Preferred Names	Protein Names
basement membrane-specific heparan sulfate proteoglycan core protein	endorepellin (domain V region)

HSPG2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HSPG2	P98160	KDR	Homo sapiens	P35968	ELISA	21596751

Cross: Cross-species interaction Intra: Intraspecies interaction

HSPG2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89554	Perlecan Antibody (YA8898)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human

Related Diseases

Diseases	Alias
Schwartz-Jampel Syndrome, Type 1	Schwartz-Jampel Syndrome SJS1 Schwartz-Jampel-Aberfeld Syndrome Sjs Chondrodystrophic Myotonia Schwartz-Jampel Syndrome Type 1 Sja Syndrome Aberfeld Syndrome Burton Skeletal Dysplasia Burton Syndrome Catel-Hempel Syndrome Myotonic Chondrodystrophy Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies Osteochondromuscular Dystrophy Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities Schwartz-Jampel Syndrome 1 Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria Schwartz Jampel Syndrome Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities Schwartz Jampel Aberfeld Syndrome Congenital Blepharophimosis, Myopia, Myopathy Syndrome Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Dyssegmental Dysplasia, Silverman-Handmaker Type	DDSH Silverman-Handmaker Type Dyssegmental Dysplasia Dyssegmental Dysplasia Silverman-Handmaker Type Dyssegmental Dwarfism Silverman-Handmaker Type Dyssegmental Dwarfism, Silverman-Handmaker Type Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type Dysplasia, Dyssegmental, Silverman-Handmaker Type
Gas Gangrene	Myonecrosis Gas Bacillus Infection Gas Gangrene Due To Clostridia Clostridial Myonecrosis Clostridial Cellulitis
Tardive Dyskinesia	Drug-Induced Tardive Dyskinesia Lingual-Facial-Buccal Dyskinesia Neuroleptic-Induced Tardive Dyskinesia
Myotonia
Childhood-Onset Schizophrenia	Childhood Schizophrenia Schizophrenia, Childhood
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Sjogren Syndrome	Sicca Syndrome Sjogren'S Syndrome Sjögren Syndrome Sjogren-Gougerot Syndrome Keratoconjunctivitis Sicca Sjögren'S Syndrome Xerodermosteosis Dacryosialoadenopathia Atrophicans Gougerot-Houwer-Sjogren Syndrome Gougerot-Sjogren Syndrome Keratoconjunctivitis Sicca-Xerostomia Secreto-Inhibitor-Xerodermostenosis Primary Sjogren Syndrome Primary Sjogren-Gougerot Syndrome Sjogrens Syndrome Primary Sjogrens Syndrome Dry Eye Syndromes
Annular Erythema	Erythema Annulare
Lipoid Proteinosis Of Urbach And Wiethe	Lipoid Proteinosis Urbach-Wiethe Disease Hyalinosis Cutis Et Mucosae Lipid Proteinosis Lipoproteinosis Urbach Wiethe Disease Lipoglycoproteinosis Lipoidosis Cutis Et Mucosae Lipoidproteinosis Urbach-Wiethe Lipoid Proteinosis Urbach-Wiethe Syndrome LIP Proteinosis Lipoid
Aplasia Of Lacrimal And Salivary Glands	ALSG Congenital Absence Of Lacrimal Puncta And Salivary Glands Xerostomia Absence Of Salivary Glands Parotid Aplasia Or Hypoplasia Congenital Absence Of Lacrimal Puncta Or Salivary Glands Alsg - [Aplasia Of Lacrimal Or Salivary Glands]
Severe Cutaneous Adverse Reaction	Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Drug-Induced Stevens Johnson Syndrome Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum Susceptibility To Severe Cutaneous Adverse Reaction Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Lyell'S Syndrome Lyell Syndrome Severe Cutaneous Adverse Reaction, Susceptibility To Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To Hypersensitivity Syndrome, Carbamazepine-Induced Stevens-Johnson Syndrome, Susceptibility To Toxic Epidermal Necrolysis, Susceptibility To Sjs/Ten Susceptibility To Severe Cutaneous Adverse Reaction Ity To Mycoplasma-Induced Stevens Johnson Syndrome Dermatostomatitis, Stevens Johnson Type Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum Sjs-Ten Toxic Epidermolysis SJS Dermatostomatitis Stevens Johnson Type Ten Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis] Ten - [Toxic Epidermal Necrolysis]
Cholera	Vibrio Cholerae Infection Cholera - Vibrio Cholerae Cholera Due To Vibrio Cholerae Vibrio Cholerae Cholera Syndrome Asiatic Cholera Epidemic Cholera
Central Corneal Ulcer
Pertussis	Whooping Cough Bordetella Infections Bordetella Infection Bordetella Pertussis Infection Wc - Whooping Cough Whooping Cough Due To Unspecified Organism Bordetellosis Tussis Convulsiva Whooping Cough, Unspecified Organism Wc - [Whooping Cough] Whooping Cough Due To B. Parapertussis Infection Due To Bordetella Parapertussis
Oligodendroglioma	Oligodendroglial Neoplasm Oligodendroglial Tumor Oligodendroglial Tumors Well Differentiated Oligodendroglioma
Hereditary Multiple Exostoses	Multiple Congenital Exostosis Hereditary Multiple Exostoses 1 Hereditary Multiple Exostoses 2 Hereditary Multiple Exostoses 3 Multiple Exostosis Syndromes Multiple Ostechondromas Osteochondromatosis Syndrome Exostoses Multiple Hereditary Exostoses, Multiple Hereditary
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Gingival Overgrowth	Gingival Enlargement Gingival Hyperplasia Gingival Bulge Gingival Enlargement Nos Gingival Hypertrophy Gum Hypertrophy Hyperplasia Gum Gingival Thickening Hyperplasia Of Gingiva Hypertrophy Of Gingiva Hypertrophy Of Mucous Membrane Of Gums
Porencephaly
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Pierson Syndrome	Microcoria-Congenital Nephrotic Syndrome Microcoria-Congenital Nephrosis Syndrome PIERS Microcoria - Congenital Nephrosis Microcoria - Congenital Nephrotic Syndrome PIERSS
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
Dry Eye Syndrome	Dry Eye Syndromes Dry Eye Disease Tear Film Insufficiency Xerophthalmia
Membranous Nephropathy	Membranous Glomerulonephritis Glomerulonephritis, Membranous Idiopathic Membranous Nephropathy Idiopathic Membranous Glomerulonephritis MBNP Membranous Nephropathy, Susceptibility To Extramembranous Glomerulonephritis Mgn Membranous Gn Primary Membranous Glomerulonephritis Primary Membranous Nephropathy Nephropathy Membranous
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Keratoconjunctivitis Sicca	Kcs Dry Eye Syndromes Keratitis Sicca Xerophthalmia
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Scoliosis
Muscular Dystrophy, Congenital Merosin-Deficient, 1a	MDC1A Lama2-Related Muscular Dystrophy Atrophie Blanche Muscular Dystrophy, Congenital Merosin-Deficient Congenital Merosin-Deficient Muscular Dystrophy 1a Merosin-Negative Congenital Muscular Dystrophy Muscular Dystrophy White Matter Spongiosis Merosin Deficient Congenital Muscular Dystrophy Muscular Dystrophy Congenital, Merosin Negative Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient Cmd1a Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency Congenital Muscular Dystrophy Type 1a Laminin Alpha-2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy Muscular Dystrophy, Congenital, Merosin-Deficient Lama2 Md Laminin Alpha 2 Deficiency Laminin Alpha-2 Deficient Muscular Dystrophy Merosin-Deficient Muscular Dystrophy Muscular Dystrophy Due To Lama2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy 1a Cardiomyopathy, Familial Idiopathic
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Trombiculiasis
Episodic Ataxia, Type 8	Episodic Ataxia Type 8 EA8 Episodic Ataxia With Slurred Speech
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06449	HSPG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19691	Hspg2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26186	Hspg2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HSPG2	MGD	MGI:96257
Felis catus	HSPG2	VGNC	VGNC:82439
Bos taurus	HSPG2	VGNC	VGNC:29988
Canis familiaris	HSPG2	VGNC	VGNC:41820
Rattus norvegicus	HSPG2	RGD	RGD:621770
Macaca mulatta	HSPG2	VGNC	VGNC:73534
Others	HSPG2	NCBI