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HSPG2 (heparan sulfate proteoglycan 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3339
Gene nameGene Name - the full gene name approved by the HGNC.
Heparan sulfate proteoglycan 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HSPG2
SynonymsGene synonyms aliases
HSPG, PLC, PRCAN, SJA, SJS, SJS1
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2229490 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs55875654 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
rs62642527 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs62642535 T>A,G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs111866498 G>A Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007259 hsa-miR-663a Luciferase reporter assay 23436656
MIRT018272 hsa-miR-335-5p Microarray 18185580
MIRT440478 hsa-miR-218-5p HITS-CLIP 23212916
MIRT738672 hsa-miR-1972 PAR-CLIP 26701625
MIRT738672 hsa-miR-1972 PAR-CLIP 27292025
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0001525 Process Angiogenesis IEA
GO:0001540 Function Amyloid-beta binding IC 21289173
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 11956183, 21596751, 23374253
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P98160
Protein name Basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) (Perlecan) (PLC) [Cleaved into: Endorepellin; LG3 peptide]
Protein function Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development.; Endorepellin in an anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration, collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6.; The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity.
PDB 3SH4 , 3SH5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a
197 234
Low-density lipoprotein receptor domain class A
Repeat
PF00057 Ldl_recept_a
283 319
Low-density lipoprotein receptor domain class A
Repeat
PF00057 Ldl_recept_a
323 359
Low-density lipoprotein receptor domain class A
Repeat
PF00057 Ldl_recept_a
366 403
Low-density lipoprotein receptor domain class A
Repeat
PF13927 Ig_3
405 483
Domain
PF00052 Laminin_B
595 729
Laminin B (Domain IV)
Family
PF00053 Laminin_EGF
764 811
Laminin EGF domain
Domain
PF00053 Laminin_EGF
814 869
Laminin EGF domain
Domain
PF00053 Laminin_EGF
867 921
Laminin EGF domain
Domain
PF00052 Laminin_B
990 1124
Laminin B (Domain IV)
Family
PF00053 Laminin_EGF
1116 1156
Laminin EGF domain
Domain
PF00053 Laminin_EGF
1159 1206
Laminin EGF domain
Domain
PF00053 Laminin_EGF
1209 1264
Laminin EGF domain
Domain
PF00053 Laminin_EGF
1275 1322
Laminin EGF domain
Domain
PF00052 Laminin_B
1396 1528
Laminin B (Domain IV)
Family
PF00053 Laminin_EGF
1523 1556
Laminin EGF domain
Domain
PF00053 Laminin_EGF
1563 1610
Laminin EGF domain
Domain
PF00053 Laminin_EGF
1613 1668
Laminin EGF domain
Domain
PF13927 Ig_3
1676 1750
Domain
PF13927 Ig_3
1769 1844
Domain
PF07679 I-set
1866 1950
Immunoglobulin I-set domain
Domain
PF07679 I-set
1956 2042
Immunoglobulin I-set domain
Domain
PF13927 Ig_3
2050 2121
Domain
PF13927 Ig_3
2153 2221
Domain
PF13927 Ig_3
2245 2315
Domain
PF13927 Ig_3
2342 2410
Domain
PF07679 I-set
2437 2520
Immunoglobulin I-set domain
Domain
PF13927 Ig_3
2535 2604
Domain
PF13927 Ig_3
2629 2700
Domain
PF13927 Ig_3
2728 2796
Domain
PF07679 I-set
2827 2910
Immunoglobulin I-set domain
Domain
PF13895 Ig_2
2926 3009
Immunoglobulin domain
Domain
PF13927 Ig_3
3021 3095
Domain
PF13927 Ig_3
3111 3189
Domain
PF07679 I-set
3212 3295
Immunoglobulin I-set domain
Domain
PF07679 I-set
3299 3382
Immunoglobulin I-set domain
Domain
PF07679 I-set
3400 3483
Immunoglobulin I-set domain
Domain
PF07679 I-set
3489 3572
Immunoglobulin I-set domain
Domain
PF07679 I-set
3576 3658
Immunoglobulin I-set domain
Domain
PF00054 Laminin_G_1
3692 3831
Laminin G domain
Domain
PF00008 EGF
3848 3879
EGF-like domain
Domain
PF00054 Laminin_G_1
3957 4088
Laminin G domain
Domain
PF00008 EGF
4108 4139
EGF-like domain
Domain
PF02210 Laminin_G_2
4234 4364
Laminin G domain
Domain
Sequence
MGWRAAGALLLALLLHGRLLAVTHGLRAYDGLSLPEDIETVTASQMRWTHSYLSDDEDML
ADSISGDDLGSGDLGSGDFQMVYFRALVNFTRSIEYSPQLEDAGSREFREVSEAVVDTLE
SEYLKIPGDQVVSVVFIKELDGWVFVELDVGSEGNADGAQIQEMLLRVISSGSVASYVTS
PQGFQFRRLGTVPQFPRACTEAEFACHSYNECVALEYRCDRRPDCRDMSDELNCEEPVLG
ISPTFSLLVETTSLPPRPETTIMRQPPVTHAPQPLLPGSVRPLPCGPQEAACRNGHCIPR
DYLCDGQEDCEDGSDELDC
GPPPPCEPNEFPCGNGHCALKLWRCDGDFDCEDRTDEANCP
TKRPEEVCGPTQFRCVSTNMCIPASFHCDEESDCPDRSDEFGCMPPQVVTPPRESIQASR
GQTVTFTCVAIGVPTPIINWRLNWGHIPSHPRVTVTSEGGRGTLIIRDVKESDQGAYTCE
AMN
ARGMVFGIPDGVLELVPQRGPCPDGHFYLEHSAACLPCFCFGITSVCQSTRRFRDQI
RLRFDQPDDFKGVNVTMPAQPGTPPLSSTQLQIDPSLHEFQLVDLSRRFLVHDSFWALPE
QFLGNKVDSYGGSLRYNVRYELARGMLEPVQRPDVVLMGAGYRLLSRGHTPTQPGALNQR
QVQFSEEHWVHESGRPVQRAELLQVLQSLEAVLIQTVYNTKMASVGLSDIAMDTTVTHAT
SHGRAHSVE
ECRCPIGYSGLSCESCDAHFTRVPGGPYLGTCSGCNCNGHASSCDPVYGHC
LNCQHNTEGPQCNKCKAGFFGDAMKATATSC
RPCPCPYIDASRRFSDTCFLDTDGQATCD
ACAPGYTGRRCESCAPGYEGNPIQPG
GKCRPVNQEIVRCDERGSMGTSGEACRCKNNVVG
RLCNECADGSFHLSTRNPDGC
LKCFCMGVSRHCTSSSWSRAQLHGASEEPGHFSLTNAAS
THTTNEGIFSPTPGELGFSSFHRLLSGPYFWSLPSRFLGDKVTSYGGELRFTVTQRSQPG
STPLHGQPLVVLQGNNIILEHHVAQEPSPGQPSTFIVPFREQAWQRPDGQPATREHLLMA
LAGIDTLLIRASYAQQPAESRVSGISMDVAVPEET
GQDPALEVEQCSCPPGYRGPSCQDC
DTGYTRTPSGLYLGTC
ERCSCHGHSEACEPETGACQGCQHHTEGPRCEQCQPGYYGDAQR
GTPQDC
QLCPCYGDPAAGQAAHTCFLDTDGHPTCDACSPGHSGRHCERCAPGYYGNPSQG
QPCQ
RDSQVPGPIGCNCDPQGSVSSQCDAAGQCQCKAQVEGLTCSHCRPHHFHLSASNPD
GC
LPCFCMGITQQCASSAYTRHLISTHFAPGDFQGFALVNPQRNSRLTGEFTVEPVPEGA
QLSFGNFAQLGHESFYWQLPETYQGDKVAAYGGKLRYTLSYTAGPQGSPLSDPDVQITGN
NIMLVASQPALQGPERRSYEIMFREEFWRRPDGQPATREHLLMALADLDELLIRATFSSV
PLAASISAVSLEVAQPGPSNRP
RALEVEECRCPPGYIGLSCQDCAPGYTRTGSGLYLGHC
ELCECNGHSDLCHPETGACSQCQHNAAGEFCELCAPGYYGDATAGTPEDCQPCACPLTNP
ENMFSRTCESLGAGGYRCTACEPGYTGQYCEQCGPGYVGNPSVQGGQC
LPETNQAPLVVE
VHPARSIVPQGGSHSLRCQVSGSPPHYFYWSREDGRPVPSGTQQRHQGSELHFPSVQPSD
AGVYICTCRN
LHQSNTSRAELLVTEAPSKPITVTVEEQRSQSVRPGADVTFICTAKSKSP
AYTLVWTRLHNGKLPTRAMDFNGILTIRNVQLSDAGTYVCTGSN
MFAMDQGTATLHVQAS
GTLSAPVVSIHPPQLTVQPGQLAEFRCSATGSPTPTLEWTGGPGGQLPAKAQIHGGILRL
PAVEPTDQAQYLCRAHSSAGQQVARAVLHV
HGGGGPRVQVSPERTQVHAGRTVRLYCRAA
GVPSATITWRKEGGSLPPQARSERTDIATLLIPAITTADAGFYLCVATSPAGTAQARIQV
VV
LSASDASPPPVKIESSSPSVTEGQTLDLNCVVAGSAHAQVTWYRRGGSLPPHTQVHGS
RLRLPQVSPADSGEYVCRVEN
GSGPKEASITVSVLHGTHSGPSYTPVPGSTRPIRIEPSS
SHVAEGQTLDLNCVVPGQAHAQVTWHKRGGSLPARHQTHGSLLRLHQVTPADSGEYVCHV
V
GTSGPLEASVLVTIEASVIPGPIPPVRIESSSSTVAEGQTLDLSCVVAGQAHAQVTWYK
RGGSLPARHQVRGSRLYIFQASPADAGQYVCRASN
GMEASITVTVTGTQGANLAYPAGST
QPIRIEPSSSQVAEGQTLDLNCVVPGQSHAQVTWHKRGGSLPVRHQTHGSLLRLYQASPA
DSGEYVCRVL
GSSVPLEASVLVTIEPAGSVPALGVTPTVRIESSSSQVAEGQTLDLNCLV
AGQAHAQVTWHKRGGSLPARHQVHGSRLRLLQVTPADSGEYVCRVVGSSGTQEASVLVTI

QQRLSGSHSQGVAYPVRIESSSASLANGHTLDLNCLVASQAPHTITWYKRGGSLPSRHQI
VGSRLRIPQVTPADSGEYVCHVSN
GAGSRETSLIVTIQGSGSSHVPSVSPPIRIESSSPT
VVEGQTLDLNCVVARQPQAIITWYKRGGSLPSRHQTHGSHLRLHQMSVADSGEYVCRANN

NIDALEASIVISVSPSAGSPSAPGSSMPIRIESSSSHVAEGETLDLNCVVPGQAHAQVTW
HKRGGSLPSHHQTRGSRLRLHHVSPADSGEYVCRVM
GSSGPLEASVLVTIEASGSSAVHV
PAPGGAPPIRIEPSSSRVAEGQTLDLKCVVPGQAHAQVTWHKRGGNLPARHQVHGPLLRL
NQVSPADSGEYSCQVTGSSGTLEASVLVTI
EPSSPGPIPAPGLAQPIYIEASSSHVTEGQ
TLDLNCVVPGQAHAQVTWYKRGGSLPARHQTHGSQLRLHLVSPADSGEYVCRAASGPGPE
QEASFTVTV
PPSEGSSYRLRSPVISIDPPSSTVQQGQDASFKCLIHDGAAPISLEWKTRN
QELEDNVHISPNGSIITIVGTRPSNHGTYRCVASN
AYGVAQSVVNLSVHGPPTVSVLPEG
PVWVKVGKAVTLECVSAGEPRSSARWTRISSTPAKLEQRTYGLMDSHAVLQISSAKPSDA
GTYVCLAQN
ALGTAQKQVEVIVDTGAMAPGAPQVQAEEAELTVEAGHTATLRCSATGSPA
PTIHWSKLRSPLPWQHRLEGDTLIIPRVAQQDSGQYICNATSPAGHAEATIILHV
ESPPY
ATTVPEHASVQAGETVQLQCLAHGTPPLTFQWSRVGSSLPGRATARNELLHFERAAPEDS
GRYRCRVTNKVGSAEAFAQLLV
QGPPGSLPATSIPAGSTPTVQVTPQLETKSIGASVEFH
CAVPSDRGTQLRWFKEGGQLPPGHSVQDGVLRIQNLDQSCQGTYICQAHGPWGKAQASAQ
LVI
QALPSVLINIRTSVQTVVVGHAVEFECLALGDPKPQVTWSKVGGHLRPGIVQSGGVV
RIAHVELADAGQYRCTATNAAGTTQSHVLLLV
QALPQISMPQEVRVPAGSAAVFPCIASG
YPTPDISWSKLDGSLPPDSRLENNMLMLPSVRPQDAGTYVCTATNRQGKVKAFAHLQV
PE
RVVPYFTQTPYSFLPLPTIKDAYRKFEIKITFRPDSADGMLLYNGQKRVPGSPTNLANRQ
PDFISFGLVGGRPEFRFDAGSGMATIRHPTPLALGHFHTVTLLRSLTQGSLIVGDLAPVN
GTSQGKFQGLDLNEELYLGGYPDYGAIPKAGLSSGFIGCVRELRIQGEEIV
FHDLNLTAH
GISHCPTCRDRPCQNGGQCHDSESSSYVCVCPAGFTGSRCEHSQALHCHPEACGPDATCV
NRPDGRGYTCRCHLGRSGLRCEEGVTVTTPSLSGAGSYLALPALTNTHHELRLDVEFKPL
APDGVLLFSGGKSGPVEDFVSLAMVGGHLEFRYELGSGLAVLRSAEPLALGRWHRVSAER
LNKDGSLRVNGGRPVLRSSPGKSQGLNLHTLLYLGGVEPSVPLSPATNMSAHFRGCVGEV
SVNGKRLD
LTYSFLGSQGIGQCYDSSPCERQPCQHGATCMPAGEYEFQCLCRDGFKGDLC
EHEENPCQLREPCLHGGTCQGTRCLCLPGFSGPRCQQGSGHGIAESDWHLEGSGGNDAPG
QYGAYFHDDGFLAFPGHVFSRSLPEVPETIELEVRTSTASGLLLWQGVEVGEAGQGKDFI
SLGLQDGHLVFRYQLGSGEARLVSEDPINDGEWHRVTALREGRRGSIQVDGEELVSGRSP
GPNVAVNAKGSVYIGGAPDVATLTGGRFSSGITGCVKNLVLHSA
RPGAPPPQPLDLQHRA
QAGANTRPCPS
Sequence length 4391
Interactions View interactions

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