VCAN (versican)

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

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)

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
  PF07686	V-set	27 → 148	Immunoglobulin V-set domain	Domain
  PF00193	Xlink	150 → 244	Extracellular link domain	Domain
  PF00193	Xlink	251 → 346	Extracellular link domain	Domain
  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

• 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Melanoma	Pathogenic	rs80356554	RCV005887593
Retinal dystrophy	Pathogenic; Likely pathogenic	rs80356555, rs1746018557	RCV001074432 RCV001074292
Stickler syndrome	Pathogenic	rs80356554	RCV004556050
Wagner disease	Pathogenic; Likely pathogenic	rs80356554, rs80356553, rs80356555, rs2479126945, rs80356556, rs397515437	RCV000203314 RCV000203374 RCV000019046 RCV004595296 RCV000020591 RCV000020592 RCV000020593 RCV000020594 RCV000034807 RCV000034808 RCV000034809 RCV001199596 RCV006434455

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Likely benign	rs772684866	RCV005927817
Colorectal cancer	Uncertain significance	rs779261955	RCV005911269
Congenital heart disease	Uncertain significance	rs752532806	RCV005863405
Gastric cancer	Uncertain significance	rs768072971	RCV005930278
Myopia 25, autosomal dominant	Conflicting classifications of pathogenicity	rs762299976	RCV005865472
Premature loss of teeth	Uncertain significance	rs752532806	RCV005863405
Prostate cancer	Uncertain significance; Likely benign	rs193920883, rs59948995	RCV000149078 RCV000149079
Retinitis pigmentosa	Uncertain significance	rs751656177, rs752532806	RCV005863364 RCV005863405
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs147798761, rs34050047, rs750413378, rs371816928	RCV005892078 RCV005928773 RCV005932557 RCV005913566
Uterine corpus endometrial carcinoma	Benign	rs111512368	RCV005892077
VCAN-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs765791345, rs543483557, rs143298619, rs747981537, rs138927784, rs150708651, rs80028865, rs371005267, rs759371442, rs199559408, rs555389211, rs149408243, rs61733390, rs990058748, rs766368686, rs146606609, rs370053498, rs142777690, rs762666146, rs141268824, rs115336789, rs536252273, rs147286274, rs149153726, rs113287237, rs1470774810, rs775630677, rs765705867, rs1351150049, rs370578105, rs770091828, rs1431126727, rs530264197, rs200930682, rs1746137096, rs1746808661, rs377044108, rs727504214, rs146630369, rs1746914463, rs745580084, rs762086676, rs767261686, rs750054814, rs374872107, rs1271774961, rs550193016, rs763154845, rs1273079508, rs2479115483, rs779485029, rs779261955, rs368478918, rs148104757, rs139854446, rs142740596, rs201255257, rs183187115, rs140606678, rs144939909, rs370984795, rs188853533, rs61754532, rs149032014, rs147586593, rs1747032491, rs189693888, rs139141519, rs141680853, rs145612319, rs1802711, rs747493525, rs144399722, rs150395515, rs759138661, rs199985410, rs896731319, rs147425694, rs532077063, rs146527005, rs141725839, rs139730890, rs141195210, rs145239579, rs184452501, rs73148633	RCV003416236 RCV003399145 RCV003416248 RCV003399185 RCV003405610 RCV003920870 RCV003963254 RCV003965808 RCV003908617 RCV003955961 RCV004746390 RCV004746381 RCV003908642 RCV003980379 RCV003900563 RCV003908784 RCV003921019 RCV003931118 RCV004746417 RCV003940935 RCV003940936 RCV003940942 RCV003940937 RCV003940938 RCV003956160 RCV004746511 RCV003416584 RCV003893086 RCV004746578 RCV003401817 RCV003941286 RCV003958555 RCV003903582 RCV003895953 RCV003941291 RCV003978836 RCV003968801 RCV004745218 RCV003952757 RCV003422077 RCV003395497 RCV003896250 RCV003936289 RCV003971351 RCV003395504 RCV004725382 RCV003395738 RCV003419221 RCV003414531 RCV003404574 RCV003397434 RCV003393042 RCV003421068 RCV003404476 RCV003902373 RCV003957827 RCV003897795 RCV003922561 RCV003922562 RCV003922563 RCV003950257 RCV003897796 RCV004745358 RCV003932459 RCV003922564 RCV003897231 RCV003899563 RCV003937173 RCV003968301 RCV003958212 RCV003968302 RCV003922878 RCV003923234 RCV003903120 RCV003895731 RCV004746221 RCV003396705 RCV004746222 RCV003433002 RCV003906267 RCV003963095 RCV003973111 RCV003425958 RCV003906269 RCV003945932 RCV003953591 RCV004746290 RCV004746311
Vitreoretinopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs309559, rs188703, rs61749614, rs536465380, rs35648048, rs309557, rs80028865, rs2652098, rs146560021, rs144610900, rs146630369, rs160279, rs160278, rs3096171, rs111512368, rs160277, rs2548541, rs12332199, rs35042106, rs141008923, rs4470745, rs2287926, rs144502710, rs61733395, rs16900528, rs113965318, rs34050047, rs141477510, rs113659987, rs80200229, rs16900532, rs113014073, rs139453864, rs695103, rs16900564, rs308365, rs886060814, rs557823406, rs886060816, rs35031282, rs886060818, rs186214606, rs143368552, rs148104757, rs78164236, rs886060819, rs886060820, rs886060822, rs752922531, rs758617685, rs138599596, rs886060823, rs150593011, rs886060824, rs61733401, rs200757689, rs147255921, rs201327923, rs780717994, rs886060827, rs202198791, rs146090207, rs528022086, rs139854446, rs532122355, rs545081931, rs886060834, rs548595991, rs886060836, rs10233, rs10411, rs886060813, rs142740596, rs115912456, rs61749613, rs760822691, rs201834775, rs201255257, rs886060821, rs200685807, rs150960939, rs201888251, rs779803420, rs780184359, rs183187115, rs3734094, rs61754536, rs140606678, rs761405097, rs767660495, rs755806449, rs773474075, rs144214095, rs372079782, rs886060832, rs886060833, rs397998455, rs1050948, rs886060812, rs886060815, rs886060817, rs148875090, rs539798172, rs144939909, rs143729093, rs61754531, rs76165877, rs142805131, rs767745674, rs150017263, rs886060825, rs138937534, rs148715382, rs77870162, rs149880697, rs144914004, rs75771891, rs756823982, rs577603057, rs373723999, rs370984795, rs17206014, rs886060829, rs8061, rs111455323, rs184855903, rs886060831, rs796702160, rs886060835, rs531984651, rs544686778, rs886060837, rs15071, rs148439157, rs76418670, rs141007991, rs188853533, rs144070403, rs61754532, rs201157092, rs140613404, rs886060826, rs149032014, rs61733389, rs541755820, rs201444192, rs375652154, rs765359111, rs187567161, rs886060828, rs140261411, rs201146484, rs11726, rs145490018, rs776524825, rs183984308, rs76914270, rs201466502, rs140063016, rs144766017, rs200941140, rs148063549, rs774896703, rs1744205658, rs751640388, rs750836310, rs762753715, rs538498172, rs754375176, rs199827515, rs1745984120, rs181669993, rs749795455, rs145029761, rs186544077, rs532077063, rs377633742, rs146527005, rs200429289, rs139028655, rs139937202, rs1231605869, rs1746106150, rs1746123738, rs1746739066, rs747887033, rs1746771607, rs61754534, rs1746783267, rs1386946213, rs141725839, rs780104369, rs1746854455, rs767918859, rs62364883, rs139730890, rs1746887068, rs751656177, rs1746893996, rs1561257553, rs199626605, rs1746925822, rs1746926635, rs774497812, rs184452501, rs146336600, rs969739770, rs1746988417, rs200031614, rs200462738, rs200780028, rs1747300004, rs763005838, rs141195210, rs369600306, rs560274180, rs939870012, rs532790573, rs757423230, rs78087172, rs572066915, rs537687030, rs904583529, rs1747036627, rs1747170920, rs1747543997	RCV000328381 RCV000282165 RCV000390283 RCV001154281 RCV000393526 RCV000381744 RCV000392005 RCV000270061 RCV000260884 RCV000324747 RCV000361504 RCV000302059 RCV000272515 RCV000308635 RCV001152163 RCV000333214 RCV000277745 RCV000297799 RCV000300511 RCV000266409 RCV000327572 RCV000298722 RCV000363951 RCV000354699 RCV001157098 RCV000388690 RCV000338708 RCV000407301 RCV000375071 RCV000353774 RCV000385578 RCV000323240 RCV000395619 RCV000314884 RCV000382639 RCV000400708 RCV000269869 RCV000330676 RCV000317909 RCV000283321 RCV000291292 RCV000388812 RCV000303837 RCV000370004 RCV000321482 RCV000293462 RCV000298906 RCV000359767 RCV000283104 RCV000291341 RCV000391382 RCV000363620 RCV000399082 RCV000407313 RCV000266074 RCV000280664 RCV000287202 RCV000355127 RCV000324230 RCV000399664 RCV000361839 RCV000369372 RCV000376727 RCV000356451 RCV000293922 RCV000402090 RCV000331978 RCV000323651 RCV000301952 RCV000356729 RCV000386262 RCV000390299 RCV000370336 RCV000344353 RCV000282548 RCV000279163 RCV000275414 RCV000312627 RCV000270899 RCV000274317 RCV000318479 RCV000312321 RCV000364637 RCV000385659 RCV000384310 RCV000297502 RCV000315848 RCV000312703 RCV000319988 RCV000284975 RCV000327562 RCV000337931 RCV000343694 RCV000399770 RCV000301855 RCV000366489 RCV000268633 RCV000356009 RCV000370873 RCV000364496 RCV000287267 RCV000404443 RCV000388088 RCV000390579 RCV000310020 RCV000260619 RCV000392222 RCV000383218 RCV000346043 RCV000363539 RCV000273391 RCV000400455 RCV000358833 RCV000366258 RCV000288627 RCV000289927 RCV000314685 RCV000302128 RCV000295764 RCV000334188 RCV000340065 RCV000365697 RCV000348997 RCV000262088 RCV000383135 RCV000339790 RCV000401758 RCV000402370 RCV000319147 RCV000295419 RCV000365234 RCV000332490 RCV000292136 RCV000340396 RCV000379514 RCV000352229 RCV000361322 RCV000382069 RCV000402621 RCV000334422 RCV000342394 RCV000314891 RCV000323783 RCV000263453 RCV000330292 RCV000319062 RCV000283849 RCV000360031 RCV000389466 RCV000260127 RCV000290433 RCV000288965 RCV000350247 RCV000383078 RCV000382750 RCV000285073 RCV001157752 RCV001151452 RCV001154162 RCV001154165 RCV001154167 RCV001155526 RCV001155812 RCV001152162 RCV001152884 RCV001155003 RCV001155004 RCV001156665 RCV001151206 RCV001154278 RCV001155115 RCV001155116 RCV001156779 RCV001156780 RCV001151330 RCV001151333 RCV001154373 RCV001154375 RCV001156877 RCV001151451 RCV001154478 RCV001154480 RCV001155310 RCV001156984 RCV001151568 RCV001154579 RCV001155417 RCV001157100 RCV001151651 RCV001151653 RCV001154695 RCV001157214 RCV001151752 RCV001155639 RCV001157303 RCV001157305 RCV001157307 RCV001151862 RCV001151863 RCV001153103 RCV001155713 RCV001157411 RCV001157412 RCV001151946 RCV001157516 RCV001157519 RCV001152051 RCV001153317 RCV001155923 RCV001155926 RCV001157630 RCV001153437 RCV001157749 RCV001152262 RCV001152264 RCV001156163 RCV001156165 RCV001157845 RCV001157846 RCV001153651 RCV001156255 RCV001157928 RCV001153737 RCV001156355 RCV001156357 RCV001153440 RCV001156032 RCV001152261

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	29752348
Aortic Aneurysm Abdominal	Stimulate	9786264
Aortic Aneurysm Thoracic	Associate	23245439
Aortic Dissection	Inhibit	23245439
Aortic Valve Stenosis	Associate	21185747
Astrocytoma	Associate	15367334, 21997179
Atrial Fibrillation	Associate	32778054, 35607269
Atrophy	Associate	14613585
Biliary Atresia	Associate	35774294, 36930067
Bone Marrow Diseases	Associate	37626330
Breast Neoplasms	Associate	21791066, 28173833, 30236106, 34162438, 37423116
Breast Neoplasms	Stimulate	22318369
Calcinosis	Stimulate	21791066
Calcinosis Cutis	Stimulate	20489157
Carcinogenesis	Stimulate	22094876
Carcinogenesis	Associate	28242813, 33604385, 36518267
Carcinoma	Associate	35043389
Carcinoma Hepatocellular	Associate	22997493, 29497050, 32311840, 36407083
Carcinoma in Situ	Inhibit	34866441
Carcinoma Intraductal Noninfiltrating	Associate	30236106
Carcinoma Non Small Cell Lung	Associate	37259101
Carcinoma Pancreatic Ductal	Associate	31731384
Carcinoma Renal Cell	Associate	22094876, 28242813, 36314741
Carcinoma Squamous Cell	Associate	15220367
Cataract	Associate	32854301, 36333947
Cerebral Arterial Diseases	Associate	29615349
Cerebral Infarction	Associate	25135788
Cholangiocarcinoma	Associate	29497050
Chronic Limb Threatening Ischemia	Associate	29615349
Colonic Neoplasms	Stimulate	12385781, 22711178, 28481899
Colorectal Neoplasms	Associate	22711178, 23372686, 24951259, 26873137, 34130530
COVID 19	Stimulate	37964271
Death	Stimulate	16731595
Dementia Vascular	Associate	39909351
Depressive Disorder Major	Associate	29752348
Diabetes Gestational	Associate	36788507
Diabetes Mellitus	Associate	24677718
Diabetic Nephropathies	Associate	34087849, 34557161, 39849979
Dysplastic Nevus Syndrome	Stimulate	11839575
Ehlers Danlos Syndrome Type IV	Associate	29346445
Endometrial Neoplasms	Associate	17065588
Esophageal Neoplasms	Associate	36569220
Esophageal Squamous Cell Carcinoma	Associate	34404882
Exfoliation Syndrome	Associate	37108678
Exudative vitreoretinopathy 1	Associate	32854301
Familial Exudative Vitreoretinopathies	Associate	36333947
Fibrocartilaginous embolism	Associate	27075568
Fibrolamellar hepatocellular carcinoma	Associate	36923282
Fibroma	Stimulate	17559135
Fibrosis	Associate	30046009
Fibrous Dysplasia of Bone	Associate	9403710
Fuchs' Endothelial Dystrophy	Associate	35239706
Gastrointestinal Stromal Tumors	Associate	21244575
Genetic Diseases Inborn	Associate	16636652, 28242813
Glaucoma 3 Primary Congenital A	Associate	36518267
Glioblastoma	Stimulate	33694259
Glioma	Associate	11805102, 17453002, 28161812
Glomerulonephritis	Associate	11168935
Glycogen Storage Disease Type IV	Associate	29615349
Graves Ophthalmopathy	Associate	34078122
Heart Failure	Associate	32802835
Heart Failure Diastolic	Associate	29752348
Hippocampal Sclerosis	Associate	35897768
Hyaloideoretinal degeneration of Wagner	Associate	16636652, 17035272, 19901218, 21738396, 22739342, 23592912, 24174867, 27327288, 32854301, 36333947, 39336769
Hypertension Pulmonary	Associate	37955024
Hypoxia	Stimulate	17537234
Immunologic Deficiency Syndromes	Associate	16857350
Inflammation	Associate	18832576, 21738396, 22117690, 24174867
Intermittent Claudication	Associate	29615349
Intracranial Aneurysm	Stimulate	40294794
Intracranial Hypertension	Stimulate	18613964
Ischemic Stroke	Associate	25135788
Kidney Cortex Necrosis	Associate	39849979
Laryngeal Neoplasms	Associate	18383852
Leiomyoma	Associate	18248652, 19700613, 22901846, 22925684, 24934492, 26409322, 26423601, 26776909, 28212568, 28323982, 28929861, 29747655, 30567472
Leukemia	Associate	19131553
Leukemia Lymphoma Adult T Cell	Associate	19131553, 20370541
Leukemia Myeloid Acute	Associate	34568834, 39506790
Limb girdle muscular dystrophy type 2B	Associate	18832576
Lung Diseases	Associate	25064447
Lung Neoplasms	Associate	21742797
Lymphatic Metastasis	Stimulate	17065588, 37259101
Lymphatic Metastasis	Associate	22318369, 33604385
Lymphoma Large Cell Anaplastic	Associate	24180670
Melanoma	Associate	11839575, 12972299, 16847433, 19269971, 21078678
Melanoma Cutaneous Malignant	Stimulate	19269971
Mesothelioma Malignant	Associate	36523602
Microsatellite Instability	Associate	32493700
Mitral Valve Insufficiency	Associate	38523390
Mitral Valve Prolapse Myxomatous 1	Associate	18621549
Multiple Myeloma	Stimulate	30891618
Multiple Myeloma	Associate	31532704, 37406588
Muscle Neoplasms	Associate	16110303
Muscular Dystrophies	Stimulate	11121445
Myocardial Infarction	Associate	27346868, 34166520
Myocardial Ischemia	Associate	31801372
Neoplasm Invasiveness	Stimulate	37108649
Neoplasm Metastasis	Associate	15220367, 16847433, 23202429, 23775078, 37259101
Neoplasm Metastasis	Stimulate	17065588, 28242813, 33604385
Neoplasms	Associate	11839575, 12385781, 12972299, 15220367, 15579438, 16540432, 16731595, 16847433, 17453002, 17728259, 18383852, 18724390, 20729814, 21078678, 21742797, 22393310, 22711178, 23202429, 25562163, 28242813, 28481899, 30448260, 31532704, 32493700, 33604385, 33750326, 36061357, 36203562, 37108649, 37108678, 37784035
Neoplasms	Stimulate	17065588, 21791066
Neoplasms	Inhibit	21244575
Neurofibromatosis 2	Associate	16643666
Non alcoholic Fatty Liver Disease	Associate	36407083
Obesity	Associate	36314741
Osteoarthritis	Associate	16316342, 37918800
Osteoarthritis	Stimulate	32407894
Osteosarcoma	Associate	16540432, 25562163, 40321814
Ovarian Diseases	Stimulate	17065588
Ovarian Diseases	Associate	22246450, 25510701
Ovarian Neoplasms	Associate	22113853, 23824740, 30448260
Pain	Associate	15138331
Pancreatic Neoplasms	Associate	36061357
Paraproteinemias	Associate	24816239
Parkinson Disease	Associate	14613585, 35112150
Parkinson Disease	Stimulate	24189015
Patterson Stevenson syndrome	Associate	29615349
Periapical Granuloma	Associate	33676487
Peritonitis	Associate	26873137
Phyllodes Tumor	Associate	37423116
Polyposis Syndrome Hereditary Mixed 1	Associate	28481899
Prostatic Hyperplasia	Associate	18819099, 34606081
Prostatic Neoplasms	Associate	17728259, 37108678
Prostatitis	Associate	23775078
Proteinuria	Associate	39849979
Pulmonary Disease Chronic Obstructive	Stimulate	20459817, 28138236
Pulmonary Disease Chronic Obstructive	Associate	37955024
Pyruvate Carboxylase Deficiency Disease	Stimulate	14613585
Radicular Cyst	Associate	33676487
Renal Insufficiency Chronic	Associate	24189015
Respiratory Distress Syndrome	Associate	36776845
Retinal Degeneration	Associate	30657523
Retinal Detachment	Associate	30657523, 32854301, 36333947
Retinal Dystrophies	Associate	30657523
Shoulder Injuries	Associate	34162438
Shoulder Pain	Associate	34162438
Squamous Cell Carcinoma of Head and Neck	Associate	16731595, 28035060, 35358652
Stomach Neoplasms	Associate	22393310, 31939331, 33015179, 33381592, 33631054, 33791386, 34356118, 35756405, 36203562, 36842141, 39556054
Stroke	Associate	25135788
Stroke Lacunar	Associate	29752348
Tendinopathy	Associate	15138331
Tetralogy of Fallot	Inhibit	23571024
Thyroid Neoplasms	Associate	28869452
Turcot syndrome	Associate	32493700
Urinary Bladder Neoplasms	Associate	33604385, 37108649, 37461061
Urologic Neoplasms	Associate	37108649
Uterine Cervical Neoplasms	Associate	20729814
Uveal melanoma	Inhibit	17003493
Uveal melanoma	Associate	33120861
Uveitis	Associate	24174867
Ventricular Remodeling	Associate	23571024, 34166520
Vision Disorders	Associate	32854301, 36333947
Vitreoretinopathy Proliferative	Associate	30657523
Vitreous Hemorrhage	Associate	36333947