Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3339
Gene name Gene Name - the full gene name approved by the HGNC.
Heparan sulfate proteoglycan 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSPG2
Synonyms (NCBI Gene) Gene synonyms aliases
HSPG, PLC, PRCAN, SJA, SJS, SJS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SJS, SJS1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
Summary Summary 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 cro
SNPs SNP 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007259 hsa-miR-663a Luciferase reporter assay 23436656
MIRT007259 hsa-miR-663a Luciferase reporter assay 23436656
MIRT007259 hsa-miR-663a Luciferase reporter assay 23436656
MIRT018272 hsa-miR-335-5p Microarray 18185580
MIRT440478 hsa-miR-218-5p HITS-CLIP 23212916
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142461 5273 ENSG00000142798
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
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
Tissue specificity TISSUE SPECIFICITY: Detected in cerebrospinal fluid, fibroblasts and urine (at protein level). {ECO:0000269|PubMed:25326458, ECO:0000269|PubMed:36213313}.
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Dyssegmental Dysplasia Silverman-Handmaker type dyssegmental dysplasia GenCC
Schwartz-Jampel Syndrome Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome GenCC
Atrial Fibrillation Atrial Fibrillation GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 36433666
Alzheimer Disease Associate 36928034
Amyotrophic Lateral Sclerosis Associate 32792518
Astrocytoma Associate 30402850
Atrophy Associate 23049933
Balkan Nephropathy Associate 24949484
Bone Diseases Associate 33210551
Brain Neoplasms Associate 26277786
Breast Neoplasms Associate 23436656, 30278461, 33210551
Carcinoma Renal Cell Associate 25184692