Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3339
Gene name	Heparan sulfate proteoglycan 2
Gene symbol	HSPG2
Synonyms (NCBI Gene)	HSPGPLCPRCANSJASJSSJS1
Chromosome	1
Chromosome location	1p36.12
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 cro

Show/Hide all (42)

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
rs113652076	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137853248	C>T	Pathogenic	Missense variant, coding sequence variant
rs138518139	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs139794766	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs139838884	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs139842104	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs142433309	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs142736845	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143109401	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143437991	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143669458	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147286334	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149159881	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150129885	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs189837148	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201491948	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369899077	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376929779	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs534949106	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs535956121	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs745452577	G>A	Uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant
rs756733330	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs762281715	G>A	Pathogenic	Stop gained, coding sequence variant
rs763945561	G>-,GG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs778653296	C>A,T	Pathogenic	Splice donor variant
rs868479224	C>A,T	Likely-pathogenic	Splice acceptor variant
rs886039909	C>T	Likely-pathogenic	Intron variant
rs886041667	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044168	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs927473035	C>A,T	Pathogenic	Splice donor variant
rs1064795546	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1373848573	C>A	Likely-pathogenic	Splice donor variant
rs1572204991	T>C	Pathogenic	Intron variant
rs1572220282	T>C	Pathogenic	Intron variant
rs1572304438	AAAGTTGCCAAAAGAGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572319254	TC>A	Pathogenic	Coding sequence variant, frameshift variant
rs1572356343	C>T	Likely-pathogenic	Intron variant

156

Show/Hide all (156)

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
MIRT440478	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1057004	hsa-miR-1207-5p	CLIP-seq
MIRT1057005	hsa-miR-1285	CLIP-seq
MIRT1057006	hsa-miR-1294	CLIP-seq
MIRT1057007	hsa-miR-183	CLIP-seq
MIRT1057008	hsa-miR-2392	CLIP-seq
MIRT1057009	hsa-miR-296-5p	CLIP-seq
MIRT1057010	hsa-miR-3151	CLIP-seq
MIRT1057011	hsa-miR-3187-5p	CLIP-seq
MIRT1057012	hsa-miR-3622b-5p	CLIP-seq
MIRT1057013	hsa-miR-3665	CLIP-seq
MIRT1057014	hsa-miR-3689d	CLIP-seq
MIRT1057015	hsa-miR-378g	CLIP-seq
MIRT1057016	hsa-miR-4252	CLIP-seq
MIRT1057017	hsa-miR-4277	CLIP-seq
MIRT1057018	hsa-miR-4314	CLIP-seq
MIRT1057019	hsa-miR-4316	CLIP-seq
MIRT1057020	hsa-miR-4447	CLIP-seq
MIRT1057021	hsa-miR-4472	CLIP-seq
MIRT1057022	hsa-miR-4486	CLIP-seq
MIRT1057023	hsa-miR-4488	CLIP-seq
MIRT1057024	hsa-miR-4514	CLIP-seq
MIRT1057025	hsa-miR-4536	CLIP-seq
MIRT1057026	hsa-miR-4667-5p	CLIP-seq
MIRT1057027	hsa-miR-4691-3p	CLIP-seq
MIRT1057028	hsa-miR-4692	CLIP-seq
MIRT1057029	hsa-miR-4697-5p	CLIP-seq
MIRT1057030	hsa-miR-4700-5p	CLIP-seq
MIRT1057031	hsa-miR-4736	CLIP-seq
MIRT1057032	hsa-miR-4763-3p	CLIP-seq
MIRT1057033	hsa-miR-486-3p	CLIP-seq
MIRT1057034	hsa-miR-491-5p	CLIP-seq
MIRT1057035	hsa-miR-612	CLIP-seq
MIRT1057036	hsa-miR-637	CLIP-seq
MIRT1057037	hsa-miR-764	CLIP-seq
MIRT1057038	hsa-miR-940	CLIP-seq
MIRT1549683	hsa-miR-1281	CLIP-seq
MIRT1549684	hsa-miR-1293	CLIP-seq
MIRT1549685	hsa-miR-15a	CLIP-seq
MIRT1549686	hsa-miR-15b	CLIP-seq
MIRT1549687	hsa-miR-16	CLIP-seq
MIRT1549688	hsa-miR-195	CLIP-seq
MIRT1549689	hsa-miR-424	CLIP-seq
MIRT1057016	hsa-miR-4252	CLIP-seq
MIRT1549690	hsa-miR-4483	CLIP-seq
MIRT1057023	hsa-miR-4488	CLIP-seq
MIRT1549691	hsa-miR-4524	CLIP-seq
MIRT1549692	hsa-miR-4642	CLIP-seq
MIRT1057026	hsa-miR-4667-5p	CLIP-seq
MIRT1549693	hsa-miR-4690-3p	CLIP-seq
MIRT1057029	hsa-miR-4697-5p	CLIP-seq
MIRT1057030	hsa-miR-4700-5p	CLIP-seq
MIRT1549694	hsa-miR-4755-3p	CLIP-seq
MIRT1549695	hsa-miR-497	CLIP-seq
MIRT1549696	hsa-miR-503	CLIP-seq
MIRT1549697	hsa-miR-545	CLIP-seq
MIRT1549698	hsa-miR-622	CLIP-seq
MIRT1057036	hsa-miR-637	CLIP-seq
MIRT1549699	hsa-miR-646	CLIP-seq
MIRT2013027	hsa-miR-1287	CLIP-seq
MIRT1549684	hsa-miR-1293	CLIP-seq
MIRT2013028	hsa-miR-1915	CLIP-seq
MIRT2013029	hsa-miR-1976	CLIP-seq
MIRT2013030	hsa-miR-3155	CLIP-seq
MIRT2013031	hsa-miR-3155b	CLIP-seq
MIRT2013032	hsa-miR-3158-5p	CLIP-seq
MIRT1549690	hsa-miR-4483	CLIP-seq
MIRT2013033	hsa-miR-4487	CLIP-seq
MIRT1549694	hsa-miR-4755-3p	CLIP-seq
MIRT2013034	hsa-miR-484	CLIP-seq
MIRT1057004	hsa-miR-1207-5p	CLIP-seq
MIRT2245322	hsa-miR-1231	CLIP-seq
MIRT2245323	hsa-miR-1267	CLIP-seq
MIRT1549683	hsa-miR-1281	CLIP-seq
MIRT2013027	hsa-miR-1287	CLIP-seq
MIRT2245324	hsa-miR-1289	CLIP-seq
MIRT1549684	hsa-miR-1293	CLIP-seq
MIRT1549685	hsa-miR-15a	CLIP-seq
MIRT1549686	hsa-miR-15b	CLIP-seq
MIRT1549687	hsa-miR-16	CLIP-seq
MIRT2013028	hsa-miR-1915	CLIP-seq
MIRT1549688	hsa-miR-195	CLIP-seq
MIRT2013029	hsa-miR-1976	CLIP-seq
MIRT2245325	hsa-miR-2114	CLIP-seq
MIRT2245326	hsa-miR-3141	CLIP-seq
MIRT2013030	hsa-miR-3155	CLIP-seq
MIRT2013031	hsa-miR-3155b	CLIP-seq
MIRT2013032	hsa-miR-3158-5p	CLIP-seq
MIRT2245327	hsa-miR-3160-3p	CLIP-seq
MIRT2245328	hsa-miR-323-5p	CLIP-seq
MIRT2245329	hsa-miR-3675-5p	CLIP-seq
MIRT1057014	hsa-miR-3689d	CLIP-seq
MIRT1549689	hsa-miR-424	CLIP-seq
MIRT2245330	hsa-miR-4288	CLIP-seq
MIRT2245331	hsa-miR-4292	CLIP-seq
MIRT2245332	hsa-miR-4308	CLIP-seq
MIRT2245333	hsa-miR-4443	CLIP-seq
MIRT1057020	hsa-miR-4447	CLIP-seq
MIRT1057021	hsa-miR-4472	CLIP-seq
MIRT1549690	hsa-miR-4483	CLIP-seq
MIRT2013033	hsa-miR-4487	CLIP-seq
MIRT1057023	hsa-miR-4488	CLIP-seq
MIRT2245334	hsa-miR-4492	CLIP-seq
MIRT2245335	hsa-miR-4498	CLIP-seq
MIRT2245336	hsa-miR-4505	CLIP-seq
MIRT1549691	hsa-miR-4524	CLIP-seq
MIRT1549692	hsa-miR-4642	CLIP-seq
MIRT2245337	hsa-miR-4661-5p	CLIP-seq
MIRT1057026	hsa-miR-4667-5p	CLIP-seq
MIRT2245338	hsa-miR-4685-5p	CLIP-seq
MIRT1057029	hsa-miR-4697-5p	CLIP-seq
MIRT1057030	hsa-miR-4700-5p	CLIP-seq
MIRT1549694	hsa-miR-4755-3p	CLIP-seq
MIRT1057032	hsa-miR-4763-3p	CLIP-seq
MIRT2013034	hsa-miR-484	CLIP-seq
MIRT1057033	hsa-miR-486-3p	CLIP-seq
MIRT1057034	hsa-miR-491-5p	CLIP-seq
MIRT1549695	hsa-miR-497	CLIP-seq
MIRT1549696	hsa-miR-503	CLIP-seq
MIRT2245339	hsa-miR-520d-5p	CLIP-seq
MIRT2245340	hsa-miR-524-5p	CLIP-seq
MIRT1549697	hsa-miR-545	CLIP-seq
MIRT2245341	hsa-miR-558	CLIP-seq
MIRT2245342	hsa-miR-600	CLIP-seq
MIRT2245343	hsa-miR-632	CLIP-seq
MIRT1057036	hsa-miR-637	CLIP-seq
MIRT1549699	hsa-miR-646	CLIP-seq
MIRT2245344	hsa-miR-762	CLIP-seq
MIRT2245345	hsa-miR-765	CLIP-seq
MIRT1549684	hsa-miR-1293	CLIP-seq
MIRT1057014	hsa-miR-3689d	CLIP-seq
MIRT1057020	hsa-miR-4447	CLIP-seq
MIRT1057021	hsa-miR-4472	CLIP-seq
MIRT1549690	hsa-miR-4483	CLIP-seq
MIRT2245334	hsa-miR-4492	CLIP-seq
MIRT2245335	hsa-miR-4498	CLIP-seq
MIRT2245336	hsa-miR-4505	CLIP-seq
MIRT1549694	hsa-miR-4755-3p	CLIP-seq
MIRT1057033	hsa-miR-486-3p	CLIP-seq
MIRT2245344	hsa-miR-762	CLIP-seq
MIRT2451452	hsa-miR-125a-5p	CLIP-seq
MIRT2451453	hsa-miR-125b	CLIP-seq
MIRT2451454	hsa-miR-1321	CLIP-seq
MIRT2451455	hsa-miR-3126-5p	CLIP-seq
MIRT2451456	hsa-miR-4319	CLIP-seq
MIRT2451457	hsa-miR-4419a	CLIP-seq
MIRT2451458	hsa-miR-4510	CLIP-seq
MIRT2451459	hsa-miR-4728-5p	CLIP-seq
MIRT2451460	hsa-miR-4739	CLIP-seq
MIRT2451461	hsa-miR-4756-5p	CLIP-seq
MIRT2451462	hsa-miR-544b	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001540	Function	Amyloid-beta binding	IC	21289173
GO:0001666	Process	Response to hypoxia	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0005178	Function	Integrin binding	TAS	21126803
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11956183, 12604605, 21596751, 23374253
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	TAS	8621634, 21126803
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006629	Process	Lipid metabolic process	TAS	21289173
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006954	Process	Inflammatory response	TAS	21126803
GO:0007162	Process	Negative regulation of cell adhesion	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	TAS	21126803
GO:0007566	Process	Embryo implantation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016525	Process	Negative regulation of angiogenesis	TAS	21126803
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	ISS
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	20551380, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	TAS	21126803
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	ISS
GO:0031100	Process	Animal organ regeneration	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IGI	21126803
GO:0046872	Function	Metal ion binding	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	TAS	21289173
GO:0070052	Function	Collagen V binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 21362503, 23533145
GO:0072359	Process	Circulatory system development	IEA
GO:0072359	Process	Circulatory system development	TAS	21126803
GO:0098797	Component	Plasma membrane protein complex	TAS	21289173
GO:1905907	Process	Negative regulation of amyloid fibril formation	IGI	21126803

MIM	HGNC	e!Ensembl
142461	5273	ENSG00000142798

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
DYLCDGQEDCEDGSDELDCGPPPPCEPNEFPCGNGHCALKLWRCDGDFDCEDRTDEANCP
TKRPEEVCGPTQFRCVSTNMCIPASFHCDEESDCPDRSDEFGCMPPQVVTPPRESIQASR
GQTVTFTCVAIGVPTPIINWRLNWGHIPSHPRVTVTSEGGRGTLIIRDVKESDQGAYTCE
AMNARGMVFGIPDGVLELVPQRGPCPDGHFYLEHSAACLPCFCFGITSVCQSTRRFRDQI
RLRFDQPDDFKGVNVTMPAQPGTPPLSSTQLQIDPSLHEFQLVDLSRRFLVHDSFWALPE
QFLGNKVDSYGGSLRYNVRYELARGMLEPVQRPDVVLMGAGYRLLSRGHTPTQPGALNQR
QVQFSEEHWVHESGRPVQRAELLQVLQSLEAVLIQTVYNTKMASVGLSDIAMDTTVTHAT
SHGRAHSVEECRCPIGYSGLSCESCDAHFTRVPGGPYLGTCSGCNCNGHASSCDPVYGHC
LNCQHNTEGPQCNKCKAGFFGDAMKATATSCRPCPCPYIDASRRFSDTCFLDTDGQATCD
ACAPGYTGRRCESCAPGYEGNPIQPGGKCRPVNQEIVRCDERGSMGTSGEACRCKNNVVG
RLCNECADGSFHLSTRNPDGCLKCFCMGVSRHCTSSSWSRAQLHGASEEPGHFSLTNAAS
THTTNEGIFSPTPGELGFSSFHRLLSGPYFWSLPSRFLGDKVTSYGGELRFTVTQRSQPG
STPLHGQPLVVLQGNNIILEHHVAQEPSPGQPSTFIVPFREQAWQRPDGQPATREHLLMA
LAGIDTLLIRASYAQQPAESRVSGISMDVAVPEETGQDPALEVEQCSCPPGYRGPSCQDC
DTGYTRTPSGLYLGTCERCSCHGHSEACEPETGACQGCQHHTEGPRCEQCQPGYYGDAQR
GTPQDCQLCPCYGDPAAGQAAHTCFLDTDGHPTCDACSPGHSGRHCERCAPGYYGNPSQG
QPCQRDSQVPGPIGCNCDPQGSVSSQCDAAGQCQCKAQVEGLTCSHCRPHHFHLSASNPD
GCLPCFCMGITQQCASSAYTRHLISTHFAPGDFQGFALVNPQRNSRLTGEFTVEPVPEGA
QLSFGNFAQLGHESFYWQLPETYQGDKVAAYGGKLRYTLSYTAGPQGSPLSDPDVQITGN
NIMLVASQPALQGPERRSYEIMFREEFWRRPDGQPATREHLLMALADLDELLIRATFSSV
PLAASISAVSLEVAQPGPSNRPRALEVEECRCPPGYIGLSCQDCAPGYTRTGSGLYLGHC
ELCECNGHSDLCHPETGACSQCQHNAAGEFCELCAPGYYGDATAGTPEDCQPCACPLTNP
ENMFSRTCESLGAGGYRCTACEPGYTGQYCEQCGPGYVGNPSVQGGQCLPETNQAPLVVE
VHPARSIVPQGGSHSLRCQVSGSPPHYFYWSREDGRPVPSGTQQRHQGSELHFPSVQPSD
AGVYICTCRNLHQSNTSRAELLVTEAPSKPITVTVEEQRSQSVRPGADVTFICTAKSKSP
AYTLVWTRLHNGKLPTRAMDFNGILTIRNVQLSDAGTYVCTGSNMFAMDQGTATLHVQAS
GTLSAPVVSIHPPQLTVQPGQLAEFRCSATGSPTPTLEWTGGPGGQLPAKAQIHGGILRL
PAVEPTDQAQYLCRAHSSAGQQVARAVLHVHGGGGPRVQVSPERTQVHAGRTVRLYCRAA
GVPSATITWRKEGGSLPPQARSERTDIATLLIPAITTADAGFYLCVATSPAGTAQARIQV
VVLSASDASPPPVKIESSSPSVTEGQTLDLNCVVAGSAHAQVTWYRRGGSLPPHTQVHGS
RLRLPQVSPADSGEYVCRVENGSGPKEASITVSVLHGTHSGPSYTPVPGSTRPIRIEPSS
SHVAEGQTLDLNCVVPGQAHAQVTWHKRGGSLPARHQTHGSLLRLHQVTPADSGEYVCHV
VGTSGPLEASVLVTIEASVIPGPIPPVRIESSSSTVAEGQTLDLSCVVAGQAHAQVTWYK
RGGSLPARHQVRGSRLYIFQASPADAGQYVCRASNGMEASITVTVTGTQGANLAYPAGST
QPIRIEPSSSQVAEGQTLDLNCVVPGQSHAQVTWHKRGGSLPVRHQTHGSLLRLYQASPA
DSGEYVCRVLGSSVPLEASVLVTIEPAGSVPALGVTPTVRIESSSSQVAEGQTLDLNCLV
AGQAHAQVTWHKRGGSLPARHQVHGSRLRLLQVTPADSGEYVCRVVGSSGTQEASVLVTI
QQRLSGSHSQGVAYPVRIESSSASLANGHTLDLNCLVASQAPHTITWYKRGGSLPSRHQI
VGSRLRIPQVTPADSGEYVCHVSNGAGSRETSLIVTIQGSGSSHVPSVSPPIRIESSSPT
VVEGQTLDLNCVVARQPQAIITWYKRGGSLPSRHQTHGSHLRLHQMSVADSGEYVCRANN
NIDALEASIVISVSPSAGSPSAPGSSMPIRIESSSSHVAEGETLDLNCVVPGQAHAQVTW
HKRGGSLPSHHQTRGSRLRLHHVSPADSGEYVCRVMGSSGPLEASVLVTIEASGSSAVHV
PAPGGAPPIRIEPSSSRVAEGQTLDLKCVVPGQAHAQVTWHKRGGNLPARHQVHGPLLRL
NQVSPADSGEYSCQVTGSSGTLEASVLVTIEPSSPGPIPAPGLAQPIYIEASSSHVTEGQ
TLDLNCVVPGQAHAQVTWYKRGGSLPARHQTHGSQLRLHLVSPADSGEYVCRAASGPGPE
QEASFTVTVPPSEGSSYRLRSPVISIDPPSSTVQQGQDASFKCLIHDGAAPISLEWKTRN
QELEDNVHISPNGSIITIVGTRPSNHGTYRCVASNAYGVAQSVVNLSVHGPPTVSVLPEG
PVWVKVGKAVTLECVSAGEPRSSARWTRISSTPAKLEQRTYGLMDSHAVLQISSAKPSDA
GTYVCLAQNALGTAQKQVEVIVDTGAMAPGAPQVQAEEAELTVEAGHTATLRCSATGSPA
PTIHWSKLRSPLPWQHRLEGDTLIIPRVAQQDSGQYICNATSPAGHAEATIILHVESPPY
ATTVPEHASVQAGETVQLQCLAHGTPPLTFQWSRVGSSLPGRATARNELLHFERAAPEDS
GRYRCRVTNKVGSAEAFAQLLVQGPPGSLPATSIPAGSTPTVQVTPQLETKSIGASVEFH
CAVPSDRGTQLRWFKEGGQLPPGHSVQDGVLRIQNLDQSCQGTYICQAHGPWGKAQASAQ
LVIQALPSVLINIRTSVQTVVVGHAVEFECLALGDPKPQVTWSKVGGHLRPGIVQSGGVV
RIAHVELADAGQYRCTATNAAGTTQSHVLLLVQALPQISMPQEVRVPAGSAAVFPCIASG
YPTPDISWSKLDGSLPPDSRLENNMLMLPSVRPQDAGTYVCTATNRQGKVKAFAHLQVPE
RVVPYFTQTPYSFLPLPTIKDAYRKFEIKITFRPDSADGMLLYNGQKRVPGSPTNLANRQ
PDFISFGLVGGRPEFRFDAGSGMATIRHPTPLALGHFHTVTLLRSLTQGSLIVGDLAPVN
GTSQGKFQGLDLNEELYLGGYPDYGAIPKAGLSSGFIGCVRELRIQGEEIVFHDLNLTAH
GISHCPTCRDRPCQNGGQCHDSESSSYVCVCPAGFTGSRCEHSQALHCHPEACGPDATCV
NRPDGRGYTCRCHLGRSGLRCEEGVTVTTPSLSGAGSYLALPALTNTHHELRLDVEFKPL
APDGVLLFSGGKSGPVEDFVSLAMVGGHLEFRYELGSGLAVLRSAEPLALGRWHRVSAER
LNKDGSLRVNGGRPVLRSSPGKSQGLNLHTLLYLGGVEPSVPLSPATNMSAHFRGCVGEV
SVNGKRLDLTYSFLGSQGIGQCYDSSPCERQPCQHGATCMPAGEYEFQCLCRDGFKGDLC
EHEENPCQLREPCLHGGTCQGTRCLCLPGFSGPRCQQGSGHGIAESDWHLEGSGGNDAPG
QYGAYFHDDGFLAFPGHVFSRSLPEVPETIELEVRTSTASGLLLWQGVEVGEAGQGKDFI
SLGLQDGHLVFRYQLGSGEARLVSEDPINDGEWHRVTALREGRRGSIQVDGEELVSGRSP
GPNVAVNAKGSVYIGGAPDVATLTGGRFSSGITGCVKNLVLHSARPGAPPPQPLDLQHRA
QAGANTRPCPS

Sequence length

4391

Interactions

View interactions

	KEGG		Reactome
	Virion - Hepatitis viruses ECM-receptor interaction Cytoskeleton in muscle cells Hepatitis B Proteoglycans in cancer		Degradation of the extracellular matrix A tetrasaccharide linker sequence is required for GAG synthesis HS-GAG biosynthesis HS-GAG degradation Integrin cell surface interactions Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective EXT2 causes exostoses 2 Defective EXT1 causes exostoses 1, TRPS2 and CHDS Defective B3GALT6 causes EDSP2 and SEMDJL1 Retinoid metabolism and transport Amyloid fiber formation

1662

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic; Pathogenic	rs898553156	RCV002226931
HSPG2-related disorder	Pathogenic; Likely pathogenic	rs747493127, rs1318029350	RCV004734269 RCV004734270
Lethal Kniest-like syndrome	Pathogenic; Likely pathogenic	rs111306515, rs769130391, rs2152747090, rs1318029350, rs2152704005, rs1196835948, rs778653296, rs762281715, rs2152721133, rs2550621846, rs1373848573, rs1419062047, rs1294413650	RCV001336825 RCV001726530 RCV001533174 RCV005006043 RCV002249077 RCV003140611 RCV002487170 RCV002283473 RCV000016055 RCV004555793 RCV000985119 RCV001196830 RCV001824170
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs778653296	RCV005895449
Schwartz-Jampel syndrome	Likely pathogenic; Pathogenic	rs2098038156, rs769130391, rs1215934207, rs886039909, rs927473035, rs1572304438, rs1572356343, rs543805444, rs1294413650	RCV001331411 RCV001726530 RCV001420359 RCV000256461 RCV000984521 RCV000986274 RCV000986276 RCV001248829 RCV001261556
Schwartz-Jampel syndrome type 1	Likely pathogenic; Pathogenic	rs2098038156, rs1318029350, rs139944523, rs763945561, rs778653296, rs2550581823, rs1239294172, rs111306515, rs2550800597, rs1572204991, rs137853248, rs1572220282, rs748523693, rs2550665451, rs1294413650	RCV005860218 RCV005006043 RCV002238697 RCV003152919 RCV002487170 RCV003234961 RCV003234962 RCV003388347 RCV003444078 RCV001800293 RCV001800294 RCV001800295 RCV001800297 RCV001800298 RCV006264004 RCV003989665

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs55728940, rs12409663, rs74060196, rs12737091, rs59720663, rs74060191, rs35423650	RCV005914620 RCV005919122 RCV005925241 RCV005891629 RCV005891643 RCV005897291 RCV005912277
Adrenocortical carcinoma, hereditary	Benign	rs12737091	RCV005891632
Cervical cancer	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs74060196, rs1162899719, rs200225298, rs77527456, rs74060191, rs77375768	RCV005925243 RCV005920745 RCV005895872 RCV005891625 RCV005897293 RCV005912284
Childhood-onset schizophrenia	Conflicting classifications of pathogenicity	rs745452577	RCV000202344
Cholangiocarcinoma	Benign	rs12737091, rs35423650	RCV005891640 RCV005912281
Chromosome 1p36 deletion syndrome	Uncertain significance	rs144511257	RCV005359867
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs12737091	RCV005891642
Colon adenocarcinoma	Benign	rs12737091	RCV005891628
Colorectal cancer	Benign	rs12737091	RCV005891636
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs370471445, rs754643779, rs148066529, rs375006314, rs900156643, rs755167311, rs554059442, rs758125762, rs759194108, rs1316660217, rs761632172, rs762689360, rs770532300, rs764695599, rs751653012 View all (86 more)	RCV002276709 RCV002276710 RCV002276797 RCV002276900 RCV002276990 RCV002276933 RCV002276937 RCV002277038 RCV002278742 RCV002278743 RCV002278744 RCV002278745 RCV002278746 RCV002278747 RCV002278748 RCV002278749 RCV002278750 RCV002278751 RCV002278752 RCV002278753 RCV002278754 RCV002278755 RCV002278756 RCV002278757 RCV002277347 RCV002277349 RCV002277376 RCV002277406 RCV002277407 RCV002277426 RCV002277431 RCV002277446 RCV002277586 RCV002278272 RCV002278277 RCV002278294 RCV002278305 RCV002278308 RCV002278317 RCV002278343 RCV002278345 RCV002278346 RCV002278349 RCV002278351 RCV002278354 RCV002278338 RCV002278340 RCV002278342 RCV002278358 RCV002278362 RCV002278344 RCV002278347 RCV002278367 RCV002278376 RCV002278352 RCV002278355 RCV002278356 RCV002278357 RCV002278361 RCV002278365 RCV002278368 RCV002278369 RCV002278370 RCV002278339 RCV002278341 RCV002278348 RCV002278350 RCV002278353 RCV002278359 RCV002278360 RCV002278363 RCV002278372 RCV002278373 RCV002278364 RCV002278374 RCV002278366 RCV002278371 RCV002278375 RCV002279290 RCV002279301 RCV002279304 RCV002279307 RCV002279306 RCV002279305 RCV002279380 RCV002279513 RCV002279512 RCV002279658 RCV002279665 RCV002279660 RCV002279676 RCV002279605 RCV002279608 RCV002279618 RCV002279620 RCV002279641 RCV002279631 RCV002279685 RCV002279686 RCV002276676 RCV002276677
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	rs145474376	RCV004559138
Familial cancer of breast	Benign; Likely benign	rs141000672	RCV005891648
Familial pancreatic carcinoma	Benign; Likely benign	rs12737091, rs141000672	RCV005891635 RCV005891650
Gastric cancer	Benign; Likely benign	rs55728940, rs139359384, rs141000672, rs77527456, rs763580487	RCV005914621 RCV005924310 RCV005891651 RCV005891627 RCV005931562
Hepatocellular carcinoma	Benign; Likely benign	rs12737091, rs77527456	RCV005891630 RCV005891624
HSPG2-realted disorder	Uncertain significance	rs779360555, rs532799636	RCV002245289 RCV002245290
Intellectual disability	Conflicting classifications of pathogenicity	rs142433309	RCV005625379
Lung cancer	Likely benign; Benign; Uncertain significance	rs115553724, rs59720663, rs527917900, rs74060191, rs35423650	RCV005918919 RCV005891646 RCV005901133 RCV005897297 RCV005912282
Lymphoma	Likely benign; Benign	rs138583401, rs12737091	RCV005921013 RCV005891637
Malignant tumor of esophagus	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs115902391, rs12409663, rs74060196, rs144525987, rs141000672, rs376645617, rs59720663, rs201665758, rs74060191, rs35423650	RCV005916443 RCV005919123 RCV005925242 RCV005924162 RCV005891649 RCV005891623 RCV005891644 RCV005934677 RCV005897292 RCV005912278
Microcephaly	Uncertain significance; Likely benign	rs752793818, rs200062985, rs373627046, rs114342311, rs138100544	RCV001252801 RCV001252802 RCV001252897 RCV001252781 RCV001252737
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	rs142736845, rs113652076	RCV005625512 RCV005625658
Neuromuscular disease caused by qualitative or quantitative defects of perlecan	Uncertain significance	rs374914708	RCV002273147
Nonpapillary renal cell carcinoma	Benign	rs12737091	RCV005891631
Ovarian cancer	Benign	rs12737091	RCV005891633
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs113652076, rs12409663, rs74060196, rs2229478, rs770470163, rs200225298, rs59720663, rs74060191, rs35423650, rs2229487	RCV005917776 RCV005919124 RCV005925245 RCV005921258 RCV005928308 RCV005895873 RCV005891645 RCV005897295 RCV005912279 RCV005913674
Reduced muscle fiber perlecan	Uncertain significance	rs147707402	RCV000714647
Sarcoma	Likely benign; Benign	rs115553724, rs74060196, rs77527456, rs74060191	RCV005918918 RCV005925244 RCV005891626 RCV005897294
See cases	Conflicting classifications of pathogenicity	rs548583670, rs143274889	RCV002252402 RCV002252089
Stuve-Wiedemann syndrome	Uncertain significance	rs147707402	RCV000714646
Thymoma	Benign	rs12737091, rs74060191, rs35423650	RCV005891639 RCV005897296 RCV005912280
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	rs770438141, rs1639189927	RCV005925371 RCV005931505
Uterine carcinosarcoma	Benign	rs12737091	RCV005891638
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance; Benign	rs113519618, rs777675608, rs746201509, rs12737091, rs59720663, rs35423650	RCV005915971 RCV005924226 RCV005932096 RCV005891641 RCV005891647 RCV005912283
Uveal melanoma	Benign	rs12737091	RCV005891634

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Cardiomyopathy Dilated	Associate	36056063
Cardiovascular Abnormalities	Associate	24454898
Celiac Disease	Associate	40165272
Cholangiocarcinoma	Associate	23480752
Chromosome 18 deletion syndrome	Associate	36123715
Colorectal Neoplasms	Associate	35751785, 37241967
Composite Lymphoma	Associate	37658696
Corneal Endothelial Cell Loss	Associate	30327649
Dental Plaque	Associate	35535576
Depressive Disorder Major	Associate	36928034
Developmental Dysplasia of the Hip	Associate	28327142, 34174923, 36123715
Diabetes Gestational	Associate	32111749, 40298873
Diabetes Mellitus Type 1	Associate	10586428
Dyssegmental dysplasia	Associate	29526034
Familial Primary Pulmonary Hypertension	Associate	32159364
Fibrocartilaginous embolism	Associate	32973250
Frontotemporal Dementia	Associate	32792518
gaze palsy familial horizontal with progressive scoliosis	Associate	25504735
Glioblastoma	Associate	33694259
Heart Diseases	Associate	24454898
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35893033
Hypoxia	Associate	36810972
Infections	Associate	27223085
Keratoconus	Associate	33729517
Leukemia	Associate	32606327
Leukemia Myeloid Acute	Stimulate	32606327
Leukemia Myelomonocytic Chronic	Associate	22328940
Melanoma	Associate	26277786
Musculoskeletal Abnormalities	Associate	30362252
Myotonic Disorders	Associate	32134596
Neoplasm Metastasis	Associate	32606327
Neoplasms	Associate	24330829, 29740048, 32364250, 32606327, 33210551
Neoplasms	Stimulate	37241967
Neoplasms Germ Cell and Embryonal	Associate	30929729
Oligodendroglioma	Associate	30402850
Osteochondrodysplasias	Associate	32134596
Papillomavirus Infections	Associate	37358427
Polycystic Ovary Syndrome	Associate	25393639
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	37820824, 39914998
Primary Myelofibrosis	Associate	38386293
Prostatic Neoplasms	Associate	24833109, 29740048, 32413029
Prostatitis	Associate	24700612
Scleroderma Systemic	Associate	30327649
Scoliosis	Associate	25504735
Squamous Cell Carcinoma of Head and Neck	Associate	18594017
Stomach Neoplasms	Associate	36484990
Triple Negative Breast Neoplasms	Associate	24330829
Triple Negative Breast Neoplasms	Stimulate	37391754
Uterine Cervical Dysplasia	Associate	36768853
Uterine Cervicitis	Associate	27223085
Uveal melanoma	Associate	34905385

HSPG2 (heparan sulfate proteoglycan 2)