ADAMTS17 (ADAM metallopeptidase with thrombospondin type 1 motif 17)

Gene

• Entrez ID: 170691
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 17
• Gene symbol: ADAMTS17
• Synonyms (NCBI Gene): WMS4
• Chromosome: 15
• Chromosome location: 15q26.3
• Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11277519	GGCTTG>-,GGCTTGGGCTTG	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, genic downstream transcript variant
rs267606638	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs387906291	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs749116256	C>T	Pathogenic	Splice donor variant, intron variant
rs1160509052	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1555501030	C>-	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025745	hsa-miR-7-5p	Microarray	17612493
MIRT714860	hsa-miR-543	HITS-CLIP	19536157
MIRT714853	hsa-miR-432-5p	HITS-CLIP	19536157
MIRT714859	hsa-miR-3621	HITS-CLIP	19536157
MIRT714858	hsa-miR-3656	HITS-CLIP	19536157
MIRT714857	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT714856	hsa-miR-1295b-5p	HITS-CLIP	19536157
MIRT714855	hsa-miR-1912	HITS-CLIP	19536157
MIRT714854	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT714853	hsa-miR-432-5p	HITS-CLIP	19536157
MIRT714852	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT714851	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT714850	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT714849	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT714848	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT714847	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT714846	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT714845	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT714844	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT714843	hsa-miR-4522	HITS-CLIP	19536157
MIRT714842	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT714841	hsa-miR-6510-3p	HITS-CLIP	19536157
MIRT496487	hsa-miR-5683	PAR-CLIP	22291592
MIRT496486	hsa-miR-1245b-5p	PAR-CLIP	22291592
MIRT496485	hsa-miR-3142	PAR-CLIP	22291592
MIRT496484	hsa-miR-939-3p	PAR-CLIP	22291592
MIRT496483	hsa-miR-139-5p	PAR-CLIP	22291592
MIRT496482	hsa-miR-661	PAR-CLIP	22291592
MIRT496481	hsa-miR-1301-5p	PAR-CLIP	22291592
MIRT496480	hsa-miR-6502-5p	PAR-CLIP	22291592
MIRT496479	hsa-miR-5571-3p	PAR-CLIP	22291592
MIRT496478	hsa-miR-5691	PAR-CLIP	22291592
MIRT496477	hsa-miR-6805-3p	PAR-CLIP	22291592
MIRT714844	hsa-miR-3120-5p	HITS-CLIP	27418678
MIRT714850	hsa-miR-3613-3p	HITS-CLIP	27418678
MIRT714851	hsa-miR-3664-5p	HITS-CLIP	27418678
MIRT714846	hsa-miR-371a-5p	HITS-CLIP	27418678
MIRT714849	hsa-miR-371b-5p	HITS-CLIP	27418678
MIRT714845	hsa-miR-372-5p	HITS-CLIP	27418678
MIRT714848	hsa-miR-373-5p	HITS-CLIP	27418678
MIRT714843	hsa-miR-4522	HITS-CLIP	27418678
MIRT714847	hsa-miR-616-5p	HITS-CLIP	27418678
MIRT714841	hsa-miR-6510-3p	HITS-CLIP	27418678
MIRT714842	hsa-miR-6888-3p	HITS-CLIP	27418678
MIRT714860	hsa-miR-543	HITS-CLIP	19536157
MIRT714853	hsa-miR-432-5p	HITS-CLIP	19536157
MIRT714859	hsa-miR-3621	HITS-CLIP	19536157
MIRT714858	hsa-miR-3656	HITS-CLIP	19536157
MIRT714857	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT714856	hsa-miR-1295b-5p	HITS-CLIP	19536157
MIRT714855	hsa-miR-1912	HITS-CLIP	19536157
MIRT714854	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT714853	hsa-miR-432-5p	HITS-CLIP	19536157
MIRT714852	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT714851	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT714850	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT714849	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT714848	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT714847	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT714846	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT714845	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT714844	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT714843	hsa-miR-4522	HITS-CLIP	19536157
MIRT714842	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT714841	hsa-miR-6510-3p	HITS-CLIP	19536157
MIRT496487	hsa-miR-5683	PAR-CLIP	22291592
MIRT496486	hsa-miR-1245b-5p	PAR-CLIP	22291592
MIRT496485	hsa-miR-3142	PAR-CLIP	22291592
MIRT496484	hsa-miR-939-3p	PAR-CLIP	22291592
MIRT496483	hsa-miR-139-5p	PAR-CLIP	22291592
MIRT496482	hsa-miR-661	PAR-CLIP	22291592
MIRT496481	hsa-miR-1301-5p	PAR-CLIP	22291592
MIRT496480	hsa-miR-6502-5p	PAR-CLIP	22291592
MIRT496479	hsa-miR-5571-3p	PAR-CLIP	22291592
MIRT496478	hsa-miR-5691	PAR-CLIP	22291592
MIRT496477	hsa-miR-6805-3p	PAR-CLIP	22291592
MIRT766448	hsa-miR-101	CLIP-seq
MIRT766449	hsa-miR-1205	CLIP-seq
MIRT766450	hsa-miR-1268	CLIP-seq
MIRT766451	hsa-miR-1268b	CLIP-seq
MIRT766452	hsa-miR-1285	CLIP-seq
MIRT766453	hsa-miR-144	CLIP-seq
MIRT766454	hsa-miR-1909	CLIP-seq
MIRT766455	hsa-miR-2114	CLIP-seq
MIRT766456	hsa-miR-3126-5p	CLIP-seq
MIRT766457	hsa-miR-3150a-3p	CLIP-seq
MIRT766458	hsa-miR-3160-3p	CLIP-seq
MIRT766459	hsa-miR-3165	CLIP-seq
MIRT766460	hsa-miR-3175	CLIP-seq
MIRT766461	hsa-miR-3178	CLIP-seq
MIRT766462	hsa-miR-3187-5p	CLIP-seq
MIRT766463	hsa-miR-3197	CLIP-seq
MIRT766464	hsa-miR-3202	CLIP-seq
MIRT766465	hsa-miR-323-5p	CLIP-seq
MIRT766466	hsa-miR-371-5p	CLIP-seq
MIRT766467	hsa-miR-3929	CLIP-seq
MIRT766468	hsa-miR-3936	CLIP-seq
MIRT766469	hsa-miR-4252	CLIP-seq
MIRT766470	hsa-miR-4271	CLIP-seq
MIRT766471	hsa-miR-4419b	CLIP-seq
MIRT766472	hsa-miR-4433	CLIP-seq
MIRT766473	hsa-miR-4459	CLIP-seq
MIRT766474	hsa-miR-4478	CLIP-seq
MIRT766475	hsa-miR-4533	CLIP-seq
MIRT766476	hsa-miR-4645-3p	CLIP-seq
MIRT766477	hsa-miR-4649-3p	CLIP-seq
MIRT766478	hsa-miR-4667-5p	CLIP-seq
MIRT766479	hsa-miR-4683	CLIP-seq
MIRT766480	hsa-miR-4700-5p	CLIP-seq
MIRT766481	hsa-miR-4725-3p	CLIP-seq
MIRT766482	hsa-miR-4728-5p	CLIP-seq
MIRT766483	hsa-miR-4747-5p	CLIP-seq
MIRT766484	hsa-miR-4768-3p	CLIP-seq
MIRT766485	hsa-miR-4786-5p	CLIP-seq
MIRT766486	hsa-miR-4793-3p	CLIP-seq
MIRT766487	hsa-miR-4793-5p	CLIP-seq
MIRT766488	hsa-miR-4794	CLIP-seq
MIRT766489	hsa-miR-483-3p	CLIP-seq
MIRT766490	hsa-miR-486-5p	CLIP-seq
MIRT766491	hsa-miR-508-5p	CLIP-seq
MIRT766492	hsa-miR-541	CLIP-seq
MIRT766493	hsa-miR-548m	CLIP-seq
MIRT766494	hsa-miR-566	CLIP-seq
MIRT766495	hsa-miR-585	CLIP-seq
MIRT766496	hsa-miR-612	CLIP-seq
MIRT766497	hsa-miR-625	CLIP-seq
MIRT766498	hsa-miR-654-5p	CLIP-seq
MIRT766499	hsa-miR-766	CLIP-seq
MIRT766500	hsa-miR-876-3p	CLIP-seq
MIRT766501	hsa-miR-939	CLIP-seq
MIRT1925808	hsa-miR-1207-3p	CLIP-seq
MIRT766452	hsa-miR-1285	CLIP-seq
MIRT766459	hsa-miR-3165	CLIP-seq
MIRT766462	hsa-miR-3187-5p	CLIP-seq
MIRT766463	hsa-miR-3197	CLIP-seq
MIRT766464	hsa-miR-3202	CLIP-seq
MIRT766467	hsa-miR-3929	CLIP-seq
MIRT766469	hsa-miR-4252	CLIP-seq
MIRT766471	hsa-miR-4419b	CLIP-seq
MIRT766472	hsa-miR-4433	CLIP-seq
MIRT766473	hsa-miR-4459	CLIP-seq
MIRT766474	hsa-miR-4478	CLIP-seq
MIRT766475	hsa-miR-4533	CLIP-seq
MIRT766477	hsa-miR-4649-3p	CLIP-seq
MIRT766479	hsa-miR-4683	CLIP-seq
MIRT766484	hsa-miR-4768-3p	CLIP-seq
MIRT766485	hsa-miR-4786-5p	CLIP-seq
MIRT766486	hsa-miR-4793-3p	CLIP-seq
MIRT766487	hsa-miR-4793-5p	CLIP-seq
MIRT766488	hsa-miR-4794	CLIP-seq
MIRT766489	hsa-miR-483-3p	CLIP-seq
MIRT766490	hsa-miR-486-5p	CLIP-seq
MIRT766491	hsa-miR-508-5p	CLIP-seq
MIRT766496	hsa-miR-612	CLIP-seq
MIRT1925809	hsa-miR-629	CLIP-seq
MIRT766499	hsa-miR-766	CLIP-seq
MIRT2167157	hsa-miR-1184	CLIP-seq
MIRT766449	hsa-miR-1205	CLIP-seq
MIRT2167158	hsa-miR-1251	CLIP-seq
MIRT766452	hsa-miR-1285	CLIP-seq
MIRT2167159	hsa-miR-2117	CLIP-seq
MIRT2167160	hsa-miR-24	CLIP-seq
MIRT2167161	hsa-miR-2909	CLIP-seq
MIRT2167162	hsa-miR-3158-5p	CLIP-seq
MIRT766458	hsa-miR-3160-3p	CLIP-seq
MIRT2167163	hsa-miR-3166	CLIP-seq
MIRT766461	hsa-miR-3178	CLIP-seq
MIRT766462	hsa-miR-3187-5p	CLIP-seq
MIRT2167164	hsa-miR-3194-3p	CLIP-seq
MIRT766463	hsa-miR-3197	CLIP-seq
MIRT766464	hsa-miR-3202	CLIP-seq
MIRT2167165	hsa-miR-3622b-5p	CLIP-seq
MIRT766466	hsa-miR-371-5p	CLIP-seq
MIRT2167166	hsa-miR-3919	CLIP-seq
MIRT766467	hsa-miR-3929	CLIP-seq
MIRT766469	hsa-miR-4252	CLIP-seq
MIRT2167167	hsa-miR-4253	CLIP-seq
MIRT2167168	hsa-miR-4273	CLIP-seq
MIRT2167169	hsa-miR-4278	CLIP-seq
MIRT2167170	hsa-miR-4284	CLIP-seq
MIRT2167171	hsa-miR-4330	CLIP-seq
MIRT766471	hsa-miR-4419b	CLIP-seq
MIRT766472	hsa-miR-4433	CLIP-seq
MIRT766473	hsa-miR-4459	CLIP-seq
MIRT766474	hsa-miR-4478	CLIP-seq
MIRT2167172	hsa-miR-4487	CLIP-seq
MIRT766475	hsa-miR-4533	CLIP-seq
MIRT2167173	hsa-miR-4536	CLIP-seq
MIRT766477	hsa-miR-4649-3p	CLIP-seq
MIRT766479	hsa-miR-4683	CLIP-seq
MIRT2167174	hsa-miR-4756-3p	CLIP-seq
MIRT2167175	hsa-miR-4764-5p	CLIP-seq
MIRT766484	hsa-miR-4768-3p	CLIP-seq
MIRT2167176	hsa-miR-4771	CLIP-seq
MIRT766485	hsa-miR-4786-5p	CLIP-seq
MIRT766486	hsa-miR-4793-3p	CLIP-seq
MIRT766487	hsa-miR-4793-5p	CLIP-seq
MIRT766488	hsa-miR-4794	CLIP-seq
MIRT2167177	hsa-miR-4802-5p	CLIP-seq
MIRT766489	hsa-miR-483-3p	CLIP-seq
MIRT2167178	hsa-miR-483-5p	CLIP-seq
MIRT766490	hsa-miR-486-5p	CLIP-seq
MIRT2167179	hsa-miR-499a-5p	CLIP-seq
MIRT766491	hsa-miR-508-5p	CLIP-seq
MIRT2167180	hsa-miR-511	CLIP-seq
MIRT2167181	hsa-miR-556-5p	CLIP-seq
MIRT2167182	hsa-miR-558	CLIP-seq
MIRT766496	hsa-miR-612	CLIP-seq
MIRT766499	hsa-miR-766	CLIP-seq
MIRT2383903	hsa-miR-3691-3p	CLIP-seq
MIRT766485	hsa-miR-4786-5p	CLIP-seq
MIRT2443151	hsa-miR-127-5p	CLIP-seq
MIRT766452	hsa-miR-1285	CLIP-seq
MIRT2443152	hsa-miR-3136-3p	CLIP-seq
MIRT766462	hsa-miR-3187-5p	CLIP-seq
MIRT766463	hsa-miR-3197	CLIP-seq
MIRT766464	hsa-miR-3202	CLIP-seq
MIRT2443153	hsa-miR-320e	CLIP-seq
MIRT766466	hsa-miR-371-5p	CLIP-seq
MIRT766467	hsa-miR-3929	CLIP-seq
MIRT766469	hsa-miR-4252	CLIP-seq
MIRT766471	hsa-miR-4419b	CLIP-seq
MIRT766474	hsa-miR-4478	CLIP-seq
MIRT766475	hsa-miR-4533	CLIP-seq
MIRT766477	hsa-miR-4649-3p	CLIP-seq
MIRT766486	hsa-miR-4793-3p	CLIP-seq
MIRT766491	hsa-miR-508-5p	CLIP-seq
MIRT766496	hsa-miR-612	CLIP-seq
MIRT766499	hsa-miR-766	CLIP-seq
MIRT2167158	hsa-miR-1251	CLIP-seq
MIRT766452	hsa-miR-1285	CLIP-seq
MIRT2469814	hsa-miR-1972	CLIP-seq
MIRT766459	hsa-miR-3165	CLIP-seq
MIRT766462	hsa-miR-3187-5p	CLIP-seq
MIRT766463	hsa-miR-3197	CLIP-seq
MIRT766464	hsa-miR-3202	CLIP-seq
MIRT2469815	hsa-miR-325	CLIP-seq
MIRT2469816	hsa-miR-3681	CLIP-seq
MIRT2469817	hsa-miR-3691-5p	CLIP-seq
MIRT766466	hsa-miR-371-5p	CLIP-seq
MIRT766467	hsa-miR-3929	CLIP-seq
MIRT766469	hsa-miR-4252	CLIP-seq
MIRT766471	hsa-miR-4419b	CLIP-seq
MIRT766474	hsa-miR-4478	CLIP-seq
MIRT766475	hsa-miR-4533	CLIP-seq
MIRT766477	hsa-miR-4649-3p	CLIP-seq
MIRT2167175	hsa-miR-4764-5p	CLIP-seq
MIRT766486	hsa-miR-4793-3p	CLIP-seq
MIRT766489	hsa-miR-483-3p	CLIP-seq
MIRT766490	hsa-miR-486-5p	CLIP-seq
MIRT766491	hsa-miR-508-5p	CLIP-seq
MIRT2469818	hsa-miR-519a	CLIP-seq
MIRT2469819	hsa-miR-519b-3p	CLIP-seq
MIRT2469820	hsa-miR-519c-3p	CLIP-seq
MIRT2469821	hsa-miR-548c-3p	CLIP-seq
MIRT2469822	hsa-miR-548n	CLIP-seq
MIRT766496	hsa-miR-612	CLIP-seq
MIRT2469823	hsa-miR-628-3p	CLIP-seq
MIRT2469824	hsa-miR-759	CLIP-seq
MIRT766499	hsa-miR-766	CLIP-seq
MIRT2167158	hsa-miR-1251	CLIP-seq
MIRT766452	hsa-miR-1285	CLIP-seq
MIRT2469814	hsa-miR-1972	CLIP-seq
MIRT766459	hsa-miR-3165	CLIP-seq
MIRT766462	hsa-miR-3187-5p	CLIP-seq
MIRT766463	hsa-miR-3197	CLIP-seq
MIRT766464	hsa-miR-3202	CLIP-seq
MIRT2469815	hsa-miR-325	CLIP-seq
MIRT2469816	hsa-miR-3681	CLIP-seq
MIRT2469817	hsa-miR-3691-5p	CLIP-seq
MIRT766466	hsa-miR-371-5p	CLIP-seq
MIRT766467	hsa-miR-3929	CLIP-seq
MIRT766469	hsa-miR-4252	CLIP-seq
MIRT766471	hsa-miR-4419b	CLIP-seq
MIRT766474	hsa-miR-4478	CLIP-seq
MIRT766475	hsa-miR-4533	CLIP-seq
MIRT766477	hsa-miR-4649-3p	CLIP-seq
MIRT2167175	hsa-miR-4764-5p	CLIP-seq
MIRT766486	hsa-miR-4793-3p	CLIP-seq
MIRT766489	hsa-miR-483-3p	CLIP-seq
MIRT766490	hsa-miR-486-5p	CLIP-seq
MIRT766491	hsa-miR-508-5p	CLIP-seq
MIRT2469818	hsa-miR-519a	CLIP-seq
MIRT2469819	hsa-miR-519b-3p	CLIP-seq
MIRT2469820	hsa-miR-519c-3p	CLIP-seq
MIRT2469821	hsa-miR-548c-3p	CLIP-seq
MIRT766496	hsa-miR-612	CLIP-seq
MIRT2469823	hsa-miR-628-3p	CLIP-seq
MIRT2469824	hsa-miR-759	CLIP-seq
MIRT766499	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 607511
• HGNC: 17109
• e!Ensembl: ENSG00000140470

Protein

• UniProt ID: Q8TE56
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 17 (ADAM-TS 17) (ADAM-TS17) (ADAMTS-17) (EC 3.4.24.-)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	36 → 180	Reprolysin family propeptide	Family
  PF01421	Reprolysin	338 → 452	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF17771	ADAM_CR_2	466 → 533	ADAM cysteine-rich domain	Domain
  PF00090	TSP_1	547 → 597	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	707 → 783	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	804 → 861		Domain
  PF19030	TSP1_ADAMTS	865 → 921		Domain
  PF19030	TSP1_ADAMTS	925 → 973		Domain
  PF19030	TSP1_ADAMTS	976 → 1028		Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow
• Sequence:

  MCDGALLPPLVLPVLLLLVWGLDPGTAVGDAAADVEVVLPWRVRPDDVHLPPLPAAPGPR
  RRRRPRTPPAAPRARPGERALLLHLPAFGRDLYLQLRRDLRFLSRGFEVEEAGAARRRGR
  PAELCFYSGRVLGHPGSLVSLSACGAAGGLVGLIQLGQEQVLIQPLNNSQGPFSGREHLI
  RRKWSLTPSPSAEAQRPEQLCKVLTEKKKPTWGRPSRDWRERRNAIRLTSEHTVETLVVA
  DADMVQYHGAEAAQRFILTVMNMVYNMFQHQSLGIKINIQVTKLVLLRQRPAKLSIGHHG
  ERSLESFCHWQNEEYGGARYLGNNQVPGGKDDPPLVDAAVFVTRTDFCVHKDEPCDTVGI
  AYLGGVCSAKRKCVLAEDNGLNLAFTIAHELGHNLGMNHDDDHSSCAGRSHIMSGEWVKG
  RNPSDLSWSSCSRDDLENFLKSKVSTCLLVTDPRSQHTVRLPHKLPGMHYSANEQCQILF
  GMNATFCRNMEHLMCAGLWCLVEGDTSCKTKLDPPLDGTECGADKWCRAGECVSKTPIPE
  HVDGDWSPWGAWSMCSRTCGTGARFRQRKCDNPPPGPGGTHCPGASVEHAVCENLPCPKG
  LPSFRDQQCQAHDRLSPKKKGLLTAVVVDDKPCELYCSPLGKESPLLVADRVLDGTPCGP
  YETDLCVHGKCQKIGCDGIIGSAAKEDRCGVCSGDGKTCHLVKGDFSHARGTALKDSGKG
  SINSDWKIELPGEFQIAGTTVRYVRRGLWEKISAKGPTKLPLHLMVLLFHDQDYGIHYEY
  TVPVNRTAENQSEPEKPQDSLFIWTHSGWEGCSVQCGGGERRTIVSCTRIVNKTTTLVND
  SDCPQASRPEPQVRRCNLHPCQSRWVAGPWSPCSATCEKGFQHREVTCVYQLQNGTHVAT
  RPLYCPGPRPAAVQSCEGQDCLSIWEASEWSQCSASCGKGVWKRTVACTNSQGKCDASTR
  PRAEEACEDYSGCYEWKTGDWSTCSSTCGKGLQSRVVQCMHKVTGRHGSECPALSKPAPY
  RQCYQEVCNDRINANTITSPRLAALTYKCTRDQWTVYCRVIREKNLCQDMRWYQRCCQTC
  RDFYANKMRQPPPNS

• Sequence length: 1095

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

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
ADAMTS17-related disorder	Likely pathogenic	rs2548992701	RCV003894524	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior segment dysgenesis	Pathogenic	rs369489185	RCV001200024	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1289240183, rs2032358181	RCV005919026 RCV005931569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Weill-Marchesani 4 syndrome, recessive	Likely pathogenic; Pathogenic	rs2141600468, rs1289240183, rs2142079953, rs387906291, rs267606638, rs749116256, rs2548477838, rs558730527, rs780563389, rs1029322575, rs1555501030, rs1160509052	RCV001839051 RCV001839052 RCV002250964 RCV000003303 RCV000003304 RCV000003305 RCV003307346 RCV003307347 RCV003307349 RCV003990195 RCV000584730 RCV000584733	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEILL-MARCHESANI SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEILL-MARCHESANI SYNDROME 4	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEILL-MARCHESANI-LIKE SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brachydactyly	Brachydactyly	BEFREE	24940034		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	32616716	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24906090		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32596344	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	GWASCAT_DG	30833571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	30833571	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis Ulcerative	Ulcerative colitis	Pubtator	37481583	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37481583	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	28176809		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	24906090		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	22486325, 28176809, 31201465, 31726086		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia lentis	Pubtator	19836009	Associate	★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	BEFREE	28176809		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia lentis isolated	Ectopia Lentis Isolated	BEFREE	21858451, 25957949		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	31048564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Geleophysic dysplasia	Geleophysic Dysplasia	BEFREE	21858451		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19836009	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	28176809		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19836009	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	37481583	Associate	★☆☆☆☆ Found in Text Mining only
Iridodonesis	Iridodonesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	31246245		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	24906090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	36966180	Associate	★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	Pubtator	40025527	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19836009	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	GWASDB_DG	23727862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	GWASCAT_DG	23727862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Phacodonesis	Phacodonesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylosis	Spondylosis	Pubtator	36966180	Associate	★☆☆☆☆ Found in Text Mining only
Weill-Marchesani syndrome	Weill-Marchesani Syndrome	BEFREE	24214363, 24940034, 31019231, 31201465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani-Like Syndrome	Weill-Marchesani Syndrome	ORPHANET_DG	19836009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani-Like Syndrome	Weill-Marchesani Syndrome	BEFREE	23754960, 25957949, 28176809, 31201465, 31726086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani-Like Syndrome	Weill-Marchesani Syndrome	GENOMICS_ENGLAND_DG	30712880		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani-Like Syndrome	Weill-Marchesani Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Weill-Marchesani-Like Syndrome	Weill-Marchesani Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams Syndrome	BEFREE	19836009, 20375329, 21858451, 24940034, 31019231, 31201465, 31726086		★☆☆☆☆ Found in Text Mining only