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: 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	21873635
GO:0006508	Process	Proteolysis	IEA
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635
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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Carpal tunnel syndrome	Carpal Tunnel Syndrome	rs28936368, rs121918088	30833571
Ectopia lentis	Ectopia Lentis	rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Weill-marchesani syndrome	Weill-Marchesani-Like Syndrome	rs121434357, rs431825170, rs387906266, rs121434359, rs267606636, rs267606637, rs387906291, rs267606638, rs749116256, rs1555396783, rs137854856, rs267606798, rs727503056, rs1555501030, rs1160509052, rs363806, rs2043337073	30712880, 19836009

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Iridodonesis	Iridodonesis
Liver neoplasms	Liver neoplasms		19233941
Liver cancer	Malignant neoplasm of liver		19233941
Ocular hypertension	Ocular Hypertension
Osteosarcoma	Osteosarcoma		23727862
Phacodonesis	Phacodonesis