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

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
retinal dystrophy	Retinal dystrophy	rs80356555, rs1746018557	N/A
wagner syndrome	Wagner syndrome	rs80356555, rs80356554, rs80356556, rs80356553, rs397515437	N/A
stickler syndrome	Stickler syndrome	rs80356554	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Carpal Tunnel Syndrome	Carpal tunnel syndrome	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Diabetes	Appendicular lean mass, Lean body mass	N/A	N/A	GWAS
Gastroesophageal Reflux Disease	Gastroesophageal reflux disease	N/A	N/A	GWAS
Laryngeal Carcinoma	Laryngeal squamous cell carcinoma	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS

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