About   Help   FAQ
Hspg2 Gene Detail
Summary
  • Symbol
    Hspg2
  • Name
    perlecan (heparan sulfate proteoglycan 2)
  • Synonyms
    Pcn, per, perlecan, Plc
  • Feature Type
    protein coding gene
  • IDs
    MGI:96257
    NCBI Gene: 15530
  • Gene Overview
    MyGene.info: HSPG2
Location & Maps
more
  • Sequence Map
    Chr4:137468769-137570630 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      101862 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 69.93 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    HSPG2, heparan sulfate proteoglycan 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HSPG2, heparan sulfate proteoglycan 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HSPG, PLC, PRCAN, SJA, SJS, SJS1
  • Links
    NCBI Gene ID: 3339
    neXtProt AC: NX_P98160

  • Chr Location
    1p36.1-p34; chr1:21822232-21937297 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 68473
    1 human;1 mouse;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: HSPG2
  • Gene Tree
Human Diseases
more
  • Diseases
    4 with Hspg2 mouse models; 2 with human HSPG2 associations

Human Disease Mouse Models
       Dyssegmental Dysplasia, Silverman-Handmaker Type; DDSH   OMIM: 224410 View 2 models
Schwartz-Jampel Syndrome, Type 1; SJS1   OMIM: 255800 View 4 models
       Thanatophoric Dysplasia, Type I; TD1   OMIM: 187600 View 1 model
Transposition of the Great Arteries, Dextro-Looped 1; DTGA1   OMIM: 608808 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    125 phenotypes from 7 alleles in 6 genetic backgrounds
    5 phenotypes from multigenic genotypes
    6 images
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    232
  • Chemically induced (other)
    2
  • Gene trapped
    221
  • Targeted
    9
  • Genomic Mutations
    3 involving Hspg2
  • Incidental Mutations
Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009935 VEGA Gene Model | MGI Sequence Detail 101862 C57BL/6J ±  kb
transcript OTTMUST00000023078 VEGA | MGI Sequence Detail 14187 Not Applicable  
polypeptide OTTMUSP00000010529 VEGA | MGI Sequence Detail 4375 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1397 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 122
    cDNA 116
    Primer pair 5
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-10976, MGD-MRK-13349, MGI:2140391
References
more
  • Summaries
    All 168
    Developmental Gene Expression 97
    Diseases 8
    Gene Ontology 19
    Phenotypes 38
  • Earliest
    J:23350 Ledbetter SR, et al., Identification of the precursor protein to basement membrane heparan sulfate proteoglycans. J Biol Chem. 1985 Jul 5;260(13):8106-113
  • Latest
    J:230611 Dierker T, et al., Altered heparan sulfate structure in Glce(-/-) mice leads to increased Hedgehog signaling in endochondral bones. Matrix Biol. 2016 Jan;49:82-92

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/13/2016
MGI 6.05
The Jackson Laboratory