VCAN (versican)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 1462
• Gene name: Versican
• Gene symbol: VCAN
• Synonyms (NCBI Gene): CSPG2, ERVR, GHAP, PG-M, WGN, WGN1
• Chromosome: 5
• Chromosome location: 5q14.2-q14.3
• Summary: This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferati

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143393049	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant, missense variant
rs536465380	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

miRNA Show/Hide all (212)

miRTarBase ID	miRNA	Experiments	Reference
MIRT651762	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT651761	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT651760	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT651759	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT651758	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT097550	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT097548	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT546098	hsa-miR-643	PAR-CLIP	21572407
MIRT546097	hsa-miR-3185	PAR-CLIP	21572407
MIRT314708	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT314709	hsa-miR-107	PAR-CLIP	21572407
MIRT546096	hsa-miR-578	PAR-CLIP	21572407
MIRT439309	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439309	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT651762	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT651761	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT651760	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT651759	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT651758	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT097550	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT097548	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT546098	hsa-miR-643	PAR-CLIP	21572407
MIRT546097	hsa-miR-3185	PAR-CLIP	21572407
MIRT314708	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT314709	hsa-miR-107	PAR-CLIP	21572407
MIRT546096	hsa-miR-578	PAR-CLIP	21572407
MIRT755457	hsa-miR-30a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	37032373
MIRT1483214	hsa-miR-3668	CLIP-seq
MIRT1483215	hsa-miR-4424	CLIP-seq
MIRT1483216	hsa-miR-494	CLIP-seq
MIRT1483217	hsa-miR-9	CLIP-seq
MIRT1483218	hsa-miR-1323	CLIP-seq
MIRT1483219	hsa-miR-181a	CLIP-seq
MIRT1483220	hsa-miR-181b	CLIP-seq
MIRT1483221	hsa-miR-181c	CLIP-seq
MIRT1483222	hsa-miR-181d	CLIP-seq
MIRT1483223	hsa-miR-3163	CLIP-seq
MIRT1483224	hsa-miR-340	CLIP-seq
MIRT1483225	hsa-miR-4262	CLIP-seq
MIRT1483215	hsa-miR-4424	CLIP-seq
MIRT1483226	hsa-miR-543	CLIP-seq
MIRT1483227	hsa-miR-544	CLIP-seq
MIRT1483228	hsa-miR-548o	CLIP-seq
MIRT1483229	hsa-miR-767-3p	CLIP-seq
MIRT1555394	hsa-miR-23a	CLIP-seq
MIRT1555395	hsa-miR-23b	CLIP-seq
MIRT1555396	hsa-miR-23c	CLIP-seq
MIRT1555397	hsa-miR-3929	CLIP-seq
MIRT1555398	hsa-miR-4419b	CLIP-seq
MIRT1555399	hsa-miR-4478	CLIP-seq
MIRT1555394	hsa-miR-23a	CLIP-seq
MIRT1555395	hsa-miR-23b	CLIP-seq
MIRT1555396	hsa-miR-23c	CLIP-seq
MIRT1555400	hsa-miR-4700-3p	CLIP-seq
MIRT1555401	hsa-miR-4729	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2145500	hsa-miR-192	CLIP-seq
MIRT2145501	hsa-miR-215	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2365791	hsa-miR-1231	CLIP-seq
MIRT2365792	hsa-miR-346	CLIP-seq
MIRT2365793	hsa-miR-4288	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2365794	hsa-miR-632	CLIP-seq
MIRT2442825	hsa-miR-300	CLIP-seq
MIRT2442826	hsa-miR-381	CLIP-seq
MIRT2442827	hsa-miR-4282	CLIP-seq
MIRT2442828	hsa-miR-4666-3p	CLIP-seq
MIRT2442829	hsa-miR-513a-3p	CLIP-seq
MIRT2659398	hsa-miR-103a	CLIP-seq
MIRT2659399	hsa-miR-1179	CLIP-seq
MIRT2659400	hsa-miR-1184	CLIP-seq
MIRT2659401	hsa-miR-1206	CLIP-seq
MIRT2659402	hsa-miR-1245b-5p	CLIP-seq
MIRT2659403	hsa-miR-1261	CLIP-seq
MIRT2659404	hsa-miR-1276	CLIP-seq
MIRT1483218	hsa-miR-1323	CLIP-seq
MIRT2659405	hsa-miR-134	CLIP-seq
MIRT2659406	hsa-miR-1343	CLIP-seq
MIRT2659407	hsa-miR-135a	CLIP-seq
MIRT2659408	hsa-miR-135b	CLIP-seq
MIRT2659409	hsa-miR-136	CLIP-seq
MIRT2659410	hsa-miR-141	CLIP-seq
MIRT1483219	hsa-miR-181a	CLIP-seq
MIRT1483220	hsa-miR-181b	CLIP-seq
MIRT1483221	hsa-miR-181c	CLIP-seq
MIRT1483222	hsa-miR-181d	CLIP-seq
MIRT2659411	hsa-miR-1972	CLIP-seq
MIRT2659412	hsa-miR-200a	CLIP-seq
MIRT2659413	hsa-miR-27a	CLIP-seq
MIRT2659414	hsa-miR-27b	CLIP-seq
MIRT2659415	hsa-miR-3118	CLIP-seq
MIRT2659416	hsa-miR-3142	CLIP-seq
MIRT2659417	hsa-miR-3159	CLIP-seq
MIRT2659418	hsa-miR-3162-5p	CLIP-seq
MIRT1483223	hsa-miR-3163	CLIP-seq
MIRT2659419	hsa-miR-3164	CLIP-seq
MIRT2659420	hsa-miR-3180-5p	CLIP-seq
MIRT2659421	hsa-miR-323b-3p	CLIP-seq
MIRT1483224	hsa-miR-340	CLIP-seq
MIRT2659422	hsa-miR-3681	CLIP-seq
MIRT2659423	hsa-miR-3682-5p	CLIP-seq
MIRT2659424	hsa-miR-3924	CLIP-seq
MIRT2659425	hsa-miR-3973	CLIP-seq
MIRT2659426	hsa-miR-3977	CLIP-seq
MIRT2659427	hsa-miR-409-5p	CLIP-seq
MIRT1483225	hsa-miR-4262	CLIP-seq
MIRT2659428	hsa-miR-4289	CLIP-seq
MIRT2659429	hsa-miR-4294	CLIP-seq
MIRT2659430	hsa-miR-4310	CLIP-seq
MIRT2659431	hsa-miR-4326	CLIP-seq
MIRT2659432	hsa-miR-4521	CLIP-seq
MIRT2659433	hsa-miR-4533	CLIP-seq
MIRT2659434	hsa-miR-4645-3p	CLIP-seq
MIRT2659435	hsa-miR-4650-5p	CLIP-seq
MIRT2659436	hsa-miR-4668-3p	CLIP-seq
MIRT2659437	hsa-miR-4668-5p	CLIP-seq
MIRT2659438	hsa-miR-4691-5p	CLIP-seq
MIRT2659439	hsa-miR-4699-3p	CLIP-seq
MIRT1555400	hsa-miR-4700-3p	CLIP-seq
MIRT1555401	hsa-miR-4729	CLIP-seq
MIRT2659440	hsa-miR-4747-5p	CLIP-seq
MIRT2659441	hsa-miR-485-3p	CLIP-seq
MIRT2659442	hsa-miR-5095	CLIP-seq
MIRT2659443	hsa-miR-513a-5p	CLIP-seq
MIRT2659444	hsa-miR-520g	CLIP-seq
MIRT2659445	hsa-miR-520h	CLIP-seq
MIRT1483226	hsa-miR-543	CLIP-seq
MIRT1483228	hsa-miR-548o	CLIP-seq
MIRT2659446	hsa-miR-548u	CLIP-seq
MIRT2659447	hsa-miR-550b	CLIP-seq
MIRT2659448	hsa-miR-552	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2659449	hsa-miR-587	CLIP-seq
MIRT2659450	hsa-miR-758	CLIP-seq
MIRT2659451	hsa-miR-885-5p	CLIP-seq
MIRT2659452	hsa-miR-924	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2659398	hsa-miR-103a	CLIP-seq
MIRT2659399	hsa-miR-1179	CLIP-seq
MIRT2659400	hsa-miR-1184	CLIP-seq
MIRT2659401	hsa-miR-1206	CLIP-seq
MIRT2659402	hsa-miR-1245b-5p	CLIP-seq
MIRT2659403	hsa-miR-1261	CLIP-seq
MIRT2659404	hsa-miR-1276	CLIP-seq
MIRT1483218	hsa-miR-1323	CLIP-seq
MIRT2659405	hsa-miR-134	CLIP-seq
MIRT2659406	hsa-miR-1343	CLIP-seq
MIRT2659407	hsa-miR-135a	CLIP-seq
MIRT2659408	hsa-miR-135b	CLIP-seq
MIRT2659409	hsa-miR-136	CLIP-seq
MIRT2659410	hsa-miR-141	CLIP-seq
MIRT1483219	hsa-miR-181a	CLIP-seq
MIRT1483220	hsa-miR-181b	CLIP-seq
MIRT1483221	hsa-miR-181c	CLIP-seq
MIRT1483222	hsa-miR-181d	CLIP-seq
MIRT2659411	hsa-miR-1972	CLIP-seq
MIRT2659412	hsa-miR-200a	CLIP-seq
MIRT2694958	hsa-miR-214	CLIP-seq
MIRT2659413	hsa-miR-27a	CLIP-seq
MIRT2659414	hsa-miR-27b	CLIP-seq
MIRT2659415	hsa-miR-3118	CLIP-seq
MIRT2659416	hsa-miR-3142	CLIP-seq
MIRT2659417	hsa-miR-3159	CLIP-seq
MIRT2659418	hsa-miR-3162-5p	CLIP-seq
MIRT1483223	hsa-miR-3163	CLIP-seq
MIRT2659419	hsa-miR-3164	CLIP-seq
MIRT2659420	hsa-miR-3180-5p	CLIP-seq
MIRT2659421	hsa-miR-323b-3p	CLIP-seq
MIRT1483224	hsa-miR-340	CLIP-seq
MIRT2694959	hsa-miR-3619-5p	CLIP-seq
MIRT2659422	hsa-miR-3681	CLIP-seq
MIRT2659423	hsa-miR-3682-5p	CLIP-seq
MIRT2659424	hsa-miR-3924	CLIP-seq
MIRT2659425	hsa-miR-3973	CLIP-seq
MIRT2659426	hsa-miR-3977	CLIP-seq
MIRT2659427	hsa-miR-409-5p	CLIP-seq
MIRT1483225	hsa-miR-4262	CLIP-seq
MIRT2694960	hsa-miR-4274	CLIP-seq
MIRT2659428	hsa-miR-4289	CLIP-seq
MIRT2694961	hsa-miR-4291	CLIP-seq
MIRT2659429	hsa-miR-4294	CLIP-seq
MIRT2659430	hsa-miR-4310	CLIP-seq
MIRT2659431	hsa-miR-4326	CLIP-seq
MIRT2659432	hsa-miR-4521	CLIP-seq
MIRT2659433	hsa-miR-4533	CLIP-seq
MIRT2659434	hsa-miR-4645-3p	CLIP-seq
MIRT2659435	hsa-miR-4650-5p	CLIP-seq
MIRT2659436	hsa-miR-4668-3p	CLIP-seq
MIRT2659437	hsa-miR-4668-5p	CLIP-seq
MIRT2659438	hsa-miR-4691-5p	CLIP-seq
MIRT1555400	hsa-miR-4700-3p	CLIP-seq
MIRT2694962	hsa-miR-4704-3p	CLIP-seq
MIRT1555401	hsa-miR-4729	CLIP-seq
MIRT2659440	hsa-miR-4747-5p	CLIP-seq
MIRT2659441	hsa-miR-485-3p	CLIP-seq
MIRT2659442	hsa-miR-5095	CLIP-seq
MIRT2659443	hsa-miR-513a-5p	CLIP-seq
MIRT2659444	hsa-miR-520g	CLIP-seq
MIRT2659445	hsa-miR-520h	CLIP-seq
MIRT1483226	hsa-miR-543	CLIP-seq
MIRT1483228	hsa-miR-548o	CLIP-seq
MIRT2659446	hsa-miR-548u	CLIP-seq
MIRT2659447	hsa-miR-550b	CLIP-seq
MIRT2659448	hsa-miR-552	CLIP-seq
MIRT1555402	hsa-miR-579	CLIP-seq
MIRT2659449	hsa-miR-587	CLIP-seq
MIRT2659450	hsa-miR-758	CLIP-seq
MIRT2694963	hsa-miR-761	CLIP-seq
MIRT2659451	hsa-miR-885-5p	CLIP-seq
MIRT2694964	hsa-miR-922	CLIP-seq
MIRT2659452	hsa-miR-924	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TCF4	Unknown	19269971
TP53	Activation	12438652

Gene ontology (GO) Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	23601700, 25122765
GO:0005539	Function	Glycosaminoglycan binding	TAS	7528742
GO:0005540	Function	Hyaluronic acid binding	IEA
GO:0005540	Function	Hyaluronic acid binding	TAS	2583089
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	25122765
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	2583089
GO:0007417	Process	Central nervous system development	IBA
GO:0008037	Process	Cell recognition	TAS	2583089
GO:0008160	Function	Protein tyrosine phosphatase activator activity	IDA	21976490
GO:0008347	Process	Glial cell migration	IDA	18431253
GO:0016020	Component	Membrane	HDA	16210410
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	ISS
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	TAS	2583089
GO:0033165	Component	Interphotoreceptor matrix	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045202	Component	Synapse	IBA
GO:0048731	Process	System development	IEA
GO:0072534	Component	Perineuronal net	IBA

Other IDs

• MIM: 118661
• HGNC: 2464
• e!Ensembl: ENSG00000038427

Protein

• UniProt ID: P13611
• Protein name: Versican core protein (Chondroitin sulfate proteoglycan core protein 2) (Chondroitin sulfate proteoglycan 2) (Glial hyaluronate-binding protein) (GHAP) (Large fibroblast proteoglycan) (PG-M)
• Protein function: May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	3093 → 3123	EGF-like domain	Domain
  PF00008	EGF	3131 → 3161	EGF-like domain	Domain
  PF00059	Lectin_C	3186 → 3291	Lectin C-type domain	Domain
  PF00084	Sushi	3296 → 3352	Sushi repeat (SCR repeat)	Domain
  PF00193	Xlink	150 → 244	Extracellular link domain	Domain
  PF00193	Xlink	251 → 346	Extracellular link domain	Domain
  PF07686	V-set	27 → 148	Immunoglobulin V-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Detected in cerebrospinal fluid, fibroblasts and urine (at protein level) (PubMed:25326458, PubMed:36213313). Expressed in the retina (at protein level) (PubMed:29777959). Cere
• Sequence:

  MFINIKSILWMCSTLIVTHALHKVKVGKSPPVRGSLSGKVSLPCHFSTMPTLPPSYNTSE
  FLRIKWSKIEVDKNGKDLKETTVLVAQNGNIKIGQDYKGRVSVPTHPEAVGDASLTVVKL
  LASDAGLYRCDVMYGIEDTQDTVSLTVDGVVFHYRAATSRYTLNFEAAQKACLDVGAVIA
  TPEQLFAAYEDGFEQCDAGWLADQTVRYPIRAPRVGCYGDKMGKAGVRTYGFRSPQETYD
  VYCYVDHLDGDVFHLTVPSKFTFEEAAKECENQDARLATVGELQAAWRNGFDQCDYGWLS
  DASVRHPVTVARAQCGGGLLGVRTLYRFENQTGFPPPDSRFDAYCFKPKEATTIDLSILA
  ETASPSLSKEPQMVSDRTTPIIPLVDELPVIPTEFPPVGNIVSFEQKATVQPQAITDSLA
  TKLPTPTGSTKKPWDMDDYSPSASGPLGKLDISEIKEEVLQSTTGVSHYATDSWDGVVED
  KQTQESVTQIEQIEVGPLVTSMEILKHIPSKEFPVTETPLVTARMILESKTEKKMVSTVS
  ELVTTGHYGFTLGEEDDEDRTLTVGSDESTLIFDQIPEVITVSKTSEDTIHTHLEDLESV
  SASTTVSPLIMPDNNGSSMDDWEERQTSGRITEEFLGKYLSTTPFPSQHRTEIELFPYSG
  DKILVEGISTVIYPSLQTEMTHRRERTETLIPEMRTDTYTDEIQEEITKSPFMGKTEEEV
  FSGMKLSTSLSEPIHVTESSVEMTKSFDFPTLITKLSAEPTEVRDMEEDFTATPGTTKYD
  ENITTVLLAHGTLSVEAATVSKWSWDEDNTTSKPLESTEPSASSKLPPALLTTVGMNGKD
  KDIPSFTEDGADEFTLIPDSTQKQLEEVTDEDIAAHGKFTIRFQPTTSTGIAEKSTLRDS
  TTEEKVPPITSTEGQVYATMEGSALGEVEDVDLSKPVSTVPQFAHTSEVEGLAFVSYSST
  QEPTTYVDSSHTIPLSVIPKTDWGVLVPSVPSEDEVLGEPSQDILVIDQTRLEATISPET
  MRTTKITEGTTQEEFPWKEQTAEKPVPALSSTAWTPKEAVTPLDEQEGDGSAYTVSEDEL
  LTGSERVPVLETTPVGKIDHSVSYPPGAVTEHKVKTDEVVTLTPRIGPKVSLSPGPEQKY
  ETEGSSTTGFTSSLSPFSTHITQLMEETTTEKTSLEDIDLGSGLFEKPKATELIEFSTIK
  VTVPSDITTAFSSVDRLHTTSAFKPSSAITKKPPLIDREPGEETTSDMVIIGESTSHVPP
  TTLEDIVAKETETDIDREYFTTSSPPATQPTRPPTVEDKEAFGPQALSTPQPPASTKFHP
  DINVYIIEVRENKTGRMSDLSVIGHPIDSESKEDEPCSEETDPVHDLMAEILPEFPDIIE
  IDLYHSEENEEEEEECANATDVTTTPSVQYINGKHLVTTVPKDPEAAEARRGQFESVAPS
  QNFSDSSESDTHPFVIAKTELSTAVQPNESTETTESLEVTWKPETYPETSEHFSGGEPDV
  FPTVPFHEEFESGTAKKGAESVTERDTEVGHQAHEHTEPVSLFPEESSGEIAIDQESQKI
  AFARATEVTFGEEVEKSTSVTYTPTIVPSSASAYVSEEEAVTLIGNPWPDDLLSTKESWV
  EATPRQVVELSGSSSIPITEGSGEAEEDEDTMFTMVTDLSQRNTTDTLITLDTSRIITES
  FFEVPATTIYPVSEQPSAKVVPTKFVSETDTSEWISSTTVEEKKRKEEEGTTGTASTFEV
  YSSTQRSDQLILPFELESPNVATSSDSGTRKSFMSLTTPTQSEREMTDSTPVFTETNTLE
  NLGAQTTEHSSIHQPGVQEGLTTLPRSPASVFMEQGSGEAAADPETTTVSSFSLNVEYAI
  QAEKEVAGTLSPHVETTFSTEPTGLVLSTVMDRVVAENITQTSREIVISERLGEPNYGAE
  IRGFSTGFPLEEDFSGDFREYSTVSHPIAKEETVMMEGSGDAAFRDTQTSPSTVPTSVHI
  SHISDSEGPSSTMVSTSAFPWEEFTSSAEGSGEQLVTVSSSVVPVLPSAVQKFSGTASSI
  IDEGLGEVGTVNEIDRRSTILPTAEVEGTKAPVEKEEVKVSGTVSTNFPQTIEPAKLWSR
  QEVNPVRQEIESETTSEEQIQEEKSFESPQNSPATEQTIFDSQTFTETELKTTDYSVLTT
  KKTYSDDKEMKEEDTSLVNMSTPDPDANGLESYTTLPEATEKSHFFLATALVTESIPAEH
  VVTDSPIKKEESTKHFPKGMRPTIQESDTELLFSGLGSGEEVLPTLPTESVNFTEVEQIN
  NTLYPHTSQVESTSSDKIEDFNRMENVAKEVGPLVSQTDIFEGSGSVTSTTLIEILSDTG
  AEGPTVAPLPFSTDIGHPQNQTVRWAEEIQTSRPQTITEQDSNKNSSTAEINETTTSSTD
  FLARAYGFEMAKEFVTSAPKPSDLYYEPSGEGSGEVDIVDSFHTSATTQATRQESSTTFV
  SDGSLEKHPEVPSAKAVTADGFPTVSVMLPLHSEQNKSSPDPTSTLSNTVSYERSTDGSF
  QDRFREFEDSTLKPNRKKPTENIIIDLDKEDKDLILTITESTILEILPELTSDKNTIIDI
  DHTKPVYEDILGMQTDIDTEVPSEPHDSNDESNDDSTQVQEIYEAAVNLSLTEETFEGSA
  DVLASYTQATHDESMTYEDRSQLDHMGFHFTTGIPAPSTETELDVLLPTATSLPIPRKSA
  TVIPEIEGIKAEAKALDDMFESSTLSDGQAIADQSEIIPTLGQFERTQEEYEDKKHAGPS
  FQPEFSSGAEEALVDHTPYLSIATTHLMDQSVTEVPDVMEGSNPPYYTDTTLAVSTFAKL
  SSQTPSSPLTIYSGSEASGHTEIPQPSALPGIDVGSSVMSPQDSFKEIHVNIEATFKPSS
  EEYLHITEPPSLSPDTKLEPSEDDGKPELLEEMEASPTELIAVEGTEILQDFQNKTDGQV
  SGEAIKMFPTIKTPEAGTVITTADEIELEGATQWPHSTSASATYGVEAGVVPWLSPQTSE
  RPTLSSSPEINPETQAALIRGQDSTIAASEQQVAARILDSNDQATVNPVEFNTEVATPPF
  SLLETSNETDFLIGINEESVEGTAIYLPGPDRCKMNPCLNGGTCYPTETSYVCTCVPGYS
  GDQCELDFDECHSNPCRNGATCVDGFNTFRCLCLPSYVGALCEQDTETCDYGWHKFQGQC
  YKYFAHRRTWDAAERECRLQGAHLTSILSHEEQMFVNRVGHDYQWIGLNDKMFEHDFRWT
  DGSTLQYENWRPNQPDSFFSAGEDCVVIIWHENGQWNDVPCNYHLTYTCKKGTVACGQPP
  VVENAKTFGKMKPRYEINSLIRYHCKDGFIQRHLPTIRCLGNGRWAIPKITCMNPSAYQR
  TYSMKYFKNSSSAKDNSINTSKHDHRWSRRWQESRR

• Sequence length: 3396

Pathways

KEGG Pathway	Reactome Pathway
Cell adhesion molecules	A tetrasaccharide linker sequence is required for GAG synthesis
Cytoskeleton in muscle cells	Chondroitin sulfate biosynthesis
	Dermatan sulfate biosynthesis
	CS/DS degradation
	ECM proteoglycans
	Defective B4GALT7 causes EDS, progeroid type
	Defective B3GAT3 causes JDSSDHD
	Defective CHST3 causes SEDCJD
	Defective CHST14 causes EDS, musculocontractural type
	Defective CHSY1 causes TPBS
	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
	Defective B3GALT6 causes EDSP2 and SEMDJL1
	Post-translational protein phosphorylation

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Melanoma	Pathogenic	rs80356554	RCV005887593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs80356555, rs1746018557	RCV001074432 RCV001074292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome	Pathogenic	rs80356554	RCV004556050	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wagner disease	Pathogenic; Likely pathogenic	rs80356554, rs80356553, rs80356555, rs2479126945, rs80356556, rs397515437	RCV000203314 RCV000203374 RCV000019046 RCV004595296 RCV000020591 RCV000020592 RCV000020593 RCV000020594 RCV000034807 RCV000034808 RCV000034809 RCV001199596 RCV006434455	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (28)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTHMA	—	GWAS catalog	25918132	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	16762588	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	36428691	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	35332129	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar GWAS catalog	36539618	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital heart disease	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	21063030	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	31527586	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARYNGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	25194280	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	20516156	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia 25, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature loss of teeth	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	38469033	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	16762588	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VCAN-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINAL DEGENERATION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGNER VITREORETINOPATHY	—	HPO	10198161,16043844,16636652,16877430,27667122	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (246)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	29861382		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	11221884		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28481899		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	25587024		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	15871917		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29752348	Associate	★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	12844226		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23007696		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	9786264	Stimulate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

BGN 12 shared pathwaysCytoskeleton in muscle cells, A tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective B3GALT6 causes EDSP2 and SEMDJL1, Dermatan sulfate biosynthesis, Chondroitin sulfate biosynthesis, CS/DS degradation, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS, ECM proteoglycans Related via 12 shared pathways including Cytoskeleton in muscle cells, A tetrasaccharide linker sequence is required for GAG synthesis. NCAN 11 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective B3GALT6 causes EDSP2 and SEMDJL1, Dermatan sulfate biosynthesis, Chondroitin sulfate biosynthesis, CS/DS degradation, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS, ECM proteoglycans Related via 11 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type. BCAN 11 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective B3GALT6 causes EDSP2 and SEMDJL1, Dermatan sulfate biosynthesis, Chondroitin sulfate biosynthesis, CS/DS degradation, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS, ECM proteoglycans Related via 11 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type. DCN 12 shared pathwaysCytoskeleton in muscle cells, A tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective B3GALT6 causes EDSP2 and SEMDJL1, Dermatan sulfate biosynthesis, Chondroitin sulfate biosynthesis, CS/DS degradation, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS, ECM proteoglycans Related via 12 shared pathways including Cytoskeleton in muscle cells, A tetrasaccharide linker sequence is required for GAG synthesis. CSPG5 10 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective B3GALT6 causes EDSP2 and SEMDJL1, Dermatan sulfate biosynthesis, Chondroitin sulfate biosynthesis, CS/DS degradation, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS Related via 10 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
BGN	0	[]	12	["Cytoskeleton in muscle cells","A tetrasaccharide linker sequence is required for GAG synthesis","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective B3GALT6 causes EDSP2 and SEMDJL1","Dermatan sulfate biosynthesis","Chondroitin sulfate biosynthesis","CS\/DS degradation","Defective CHST3 causes SEDCJD","Defective CHST14 causes EDS, musculocontractural type","Defective CHSY1 causes TPBS","ECM proteoglycans"]	0	[]
NCAN	0	[]	11	["A tetrasaccharide linker sequence is required for GAG synthesis","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective B3GALT6 causes EDSP2 and SEMDJL1","Dermatan sulfate biosynthesis","Chondroitin sulfate biosynthesis","CS\/DS degradation","Defective CHST3 causes SEDCJD","Defective CHST14 causes EDS, musculocontractural type","Defective CHSY1 causes TPBS","ECM proteoglycans"]	0	[]
BCAN	0	[]	11	["A tetrasaccharide linker sequence is required for GAG synthesis","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective B3GALT6 causes EDSP2 and SEMDJL1","Dermatan sulfate biosynthesis","Chondroitin sulfate biosynthesis","CS\/DS degradation","Defective CHST3 causes SEDCJD","Defective CHST14 causes EDS, musculocontractural type","Defective CHSY1 causes TPBS","ECM proteoglycans"]	0	[]
DCN	0	[]	12	["Cytoskeleton in muscle cells","A tetrasaccharide linker sequence is required for GAG synthesis","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective B3GALT6 causes EDSP2 and SEMDJL1","Dermatan sulfate biosynthesis","Chondroitin sulfate biosynthesis","CS\/DS degradation","Defective CHST3 causes SEDCJD","Defective CHST14 causes EDS, musculocontractural type","Defective CHSY1 causes TPBS","ECM proteoglycans"]	0	[]
CSPG5	0	[]	10	["A tetrasaccharide linker sequence is required for GAG synthesis","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective B3GALT6 causes EDSP2 and SEMDJL1","Dermatan sulfate biosynthesis","Chondroitin sulfate biosynthesis","CS\/DS degradation","Defective CHST3 causes SEDCJD","Defective CHST14 causes EDS, musculocontractural type","Defective CHSY1 causes TPBS"]	0	[]

Diseases Linked via Similar Genes

Schizophrenia Linked via 2 of 5 related genesNCAN, CSPG5 Androgenetic alopecia Linked via 1 of 5 related genesBGN Rheumatoid arthritis Linked via 1 of 5 related genesBGN Breast neoplasms Linked via 1 of 5 related genesBGN Congenital contractural arachnodactyly Linked via 1 of 5 related genesBGN

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Schizophrenia	2	["NCAN","CSPG5"]
Androgenetic alopecia	1	["BGN"]
Rheumatoid arthritis	1	["BGN"]
Breast neoplasms	1	["BGN"]
Congenital contractural arachnodactyly	1	["BGN"]