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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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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

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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: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
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005604	Component	Basement membrane	TAS	8621634, 21126803
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS
GO:0006629	Process	Lipid metabolic process	TAS	21289173
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006954	Process	Inflammatory response	TAS	21126803
GO:0007420	Process	Brain development	TAS	21126803
GO:0008022	Function	Protein C-terminus binding	IPI	12604605
GO:0009887	Process	Animal organ morphogenesis	IBA	21873635
GO:0009888	Process	Tissue development	IBA	21873635
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	TAS	21126803
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0050750	Function	Low-density lipoprotein particle receptor binding	TAS	21289173
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 21362503, 23533145
GO:0072359	Process	Circulatory system development	TAS	21126803
GO:0098797	Component	Plasma membrane protein complex	TAS	21289173

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
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

Show/Hide Causal Diseases (24)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	26830138
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557 View all (6 more)	30061737
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)	23555315
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Ectopia lentis	Ectopia Lentis	rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Melnick-needles syndrome	Melnick-Needles Syndrome	rs28935472, rs28935473	10545953, 11279527
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368 View all (58 more)	10545953, 11279527
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061	10545953, 11279527
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424 View all (116 more)
Schizophrenia	Schizophrenia, Childhood	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	26508570
Schwartz-jampel syndrome	Schwartz-Jampel Syndrome, Schwartz-Jampel syndrome	rs886039909, rs927473035, rs1572304438, rs1572356343	10545953, 19367640, 11279527
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)
Spondyloenchondrodysplasia	Spondyloepiphyseal Dysplasia Tarda, X-Linked	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880 View all (39 more)	11279527, 10545953
Spondyloepiphyseal dysplasia	Spondyloepiphyseal Dysplasia	rs72555367, rs121908950, rs121908951, rs121908952, rs104893637, rs104893639, rs387906534, rs121913568, rs606231241, rs606231242, rs786200933, rs606231243, rs786200934, rs397515546, rs797045099 View all (10 more)	11279527, 10545953

Show/Hide Unknown Diseases (8)

Disease term	Disease name	References	Source
Unknown
Pulmonary hypoplasia	Congenital hypoplasia of lung		ClinVar
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	30061737	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
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
Uterine Fibroids	Uterine Fibroids		GWAS

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text Mining
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)