Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

42 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

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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
PF00008	EGF	3848 → 3879	EGF-like domain	Domain
PF00008	EGF	4108 → 4139	EGF-like domain	Domain
PF00052	Laminin_B	990 → 1124	Laminin B (Domain IV)	Family
PF00052	Laminin_B	1396 → 1528	Laminin B (Domain IV)	Family
PF00052	Laminin_B	595 → 729	Laminin B (Domain IV)	Family
PF00053	Laminin_EGF	1159 → 1206	Laminin EGF domain	Domain
PF00053	Laminin_EGF	764 → 811	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1275 → 1322	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1563 → 1610	Laminin EGF domain	Domain
PF00053	Laminin_EGF	814 → 869	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1613 → 1668	Laminin EGF domain	Domain
PF00053	Laminin_EGF	867 → 921	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1209 → 1264	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1116 → 1156	Laminin EGF domain	Domain
PF00053	Laminin_EGF	1523 → 1556	Laminin EGF domain	Domain
PF00054	Laminin_G_1	3957 → 4088	Laminin G domain	Domain
PF00054	Laminin_G_1	3692 → 3831	Laminin G domain	Domain
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	197 → 234	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	366 → 403	Low-density lipoprotein receptor domain class A	Repeat
PF02210	Laminin_G_2	4234 → 4364	Laminin G domain	Domain
PF07679	I-set	1956 → 2042	Immunoglobulin I-set domain	Domain
PF07679	I-set	3299 → 3382	Immunoglobulin I-set domain	Domain
PF07679	I-set	3212 → 3295	Immunoglobulin I-set domain	Domain
PF07679	I-set	3576 → 3658	Immunoglobulin I-set domain	Domain
PF07679	I-set	2437 → 2520	Immunoglobulin I-set domain	Domain
PF07679	I-set	3489 → 3572	Immunoglobulin I-set domain	Domain
PF07679	I-set	2827 → 2910	Immunoglobulin I-set domain	Domain
PF07679	I-set	1866 → 1950	Immunoglobulin I-set domain	Domain
PF07679	I-set	3400 → 3483	Immunoglobulin I-set domain	Domain
PF13895	Ig_2	2926 → 3009	Immunoglobulin domain	Domain
PF13927	Ig_3	405 → 483		Domain
PF13927	Ig_3	2245 → 2315		Domain
PF13927	Ig_3	2050 → 2121		Domain
PF13927	Ig_3	2629 → 2700		Domain
PF13927	Ig_3	2535 → 2604		Domain
PF13927	Ig_3	1676 → 1750		Domain
PF13927	Ig_3	3111 → 3189		Domain
PF13927	Ig_3	2153 → 2221		Domain
PF13927	Ig_3	2728 → 2796		Domain
PF13927	Ig_3	1769 → 1844		Domain
PF13927	Ig_3	3021 → 3095		Domain
PF13927	Ig_3	2342 → 2410		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 Pathway	Reactome Pathway
Virion - Hepatitis viruses	Degradation of the extracellular matrix
ECM-receptor interaction	A tetrasaccharide linker sequence is required for GAG synthesis
Cytoskeleton in muscle cells	HS-GAG biosynthesis
Hepatitis B	HS-GAG degradation
Proteoglycans in cancer	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (6)
Abnormal facial shape	Likely pathogenic; Pathogenic	rs898553156	RCV002226931	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HSPG2-related disorder	Pathogenic; Likely pathogenic	rs747493127, rs1318029350	RCV004734269 RCV004734270	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs778653296	RCV005895449	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwartz-Jampel syndrome	Likely pathogenic; Pathogenic	rs2098038156, rs769130391, rs1215934207, rs886039909, rs927473035, rs1572304438, rs1572356343, rs543805444, rs1294413650	RCV001331411 RCV001726530 RCV001420359 RCV000256461 RCV000984521 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (51)
1P36 DELETION SYNDROME	—	Orphanet	26345236	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	26830138, 39537608	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	30061737, 35872910, 36653681, 39537608, 40050429, 40645996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood-onset schizophrenia	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 1p36 deletion syndrome	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	10545953	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSSEGMENTAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	11279527	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE	—	HPO, Orphanet HPO, Orphanet	11279527	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HSPG2-realted disorder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies/dysmorphic syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease caused by qualitative or quantitative defects of perlecan	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	10545953, 11279527	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reduced muscle fiber perlecan	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHWARTZ-JAMPEL SYNDROME, TYPE 1	—	Disgenet, HPO Disgenet, HPO	11101850,11941538	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Silverman-Handmaker type dyssegmental dysplasia	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stuve-Wiedemann syndrome	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	40050615	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (277)
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	7544867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12050180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	10993271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30426534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	30402850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28159936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36928034	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	12189507, 14720194, 21255062, 29921372		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COMP	3	["Osteochondrodysplasias","Congenital cartilage disorder","Connective tissue disease"]	4	["ECM-receptor interaction","Cytoskeleton in muscle cells","Integrin cell surface interactions","ECM proteoglycans"]	3	["Disgenet (Osteochondrodysplasias)","Disgenet (Congenital cartilage disorder)","Disgenet (Connective tissue disease)"]
LDLRAD2	3	["Connective tissue disease","Dyssegmental dysplasia","Schwartz-jampel syndrome"]	0	[]	3	["Disgenet (Connective tissue disease)","Disgenet (Dyssegmental dysplasia)","Disgenet (Schwartz-jampel syndrome)"]
TRAPPC2	3	["Spondyloepiphyseal dysplasia","Osteochondrodysplasias","Connective tissue disease"]	0	[]	3	["CTD (Osteochondrodysplasias)","Disgenet (Connective tissue disease)","Disgenet (Spondyloepiphyseal dysplasia)"]
COL9A2	3	["Osteochondrodysplasias","Congenital cartilage disorder","Connective tissue disease"]	4	["ECM-receptor interaction","Cytoskeleton in muscle cells","Integrin cell surface interactions","ECM proteoglycans"]	3	["Disgenet (Osteochondrodysplasias)","Disgenet (Congenital cartilage disorder)","Disgenet (Connective tissue disease)"]
COL9A1	3	["Osteochondrodysplasias","Congenital cartilage disorder","Connective tissue disease"]	4	["ECM-receptor interaction","Cytoskeleton in muscle cells","Integrin cell surface interactions","ECM proteoglycans"]	4	["CTD (Osteochondrodysplasias)","Disgenet (Osteochondrodysplasias)","Disgenet (Congenital cartilage disorder)","Disgenet (Connective tissue disease)"]

HSPG2 (heparan sulfate proteoglycan 2)

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