Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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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

290

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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

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence
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

MIM	HGNC	e!Ensembl
607511	17109	ENSG00000140470

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

Interactions

View interactions

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

419

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ADAMTS17-related disorder	Likely pathogenic	rs2548992701	RCV003894524
Anterior segment dysgenesis	Pathogenic	rs369489185	RCV001200024
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1289240183, rs2032358181	RCV005919026 RCV005931569
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

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs2573625	RCV005893344
Cholangiocarcinoma	Benign	rs7496894	RCV005925075
Gastric cancer	Benign	rs7496894	RCV005925073
Lung cancer	Benign	rs7496894, rs2573625	RCV005925076 RCV005893346
Malignant tumor of esophagus	Benign	rs151080312	RCV005917940
Sarcoma	Uncertain significance; Benign	rs374781820, rs2573625	RCV005924021 RCV005893345
Squamous cell carcinoma of the head and neck	Benign	rs4965583	RCV005893347
Uterine carcinosarcoma	Benign	rs7496894	RCV005925074
Uveal melanoma	Benign	rs4965583	RCV005893348

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Axenfeld Rieger syndrome	Associate	32499604
Brachydactyly	Associate	32616716
Carcinoma Squamous Cell	Associate	32596344
Carpal Tunnel Syndrome	Associate	30833571
Colitis Ulcerative	Associate	37481583
Crohn Disease	Associate	37481583
Dwarfism stiff joint ocular abnormalities	Associate	32616716
Ectopia Lentis	Associate	19836009
Glaucoma	Associate	19836009
Growth Disorders	Associate	19836009
Inflammatory Bowel Diseases	Associate	37481583
Marfan Syndrome	Associate	36966180
Microspherophakia	Associate	40025527
Myopia	Associate	19836009
Spondylosis	Associate	36966180
Weill Marchesani Like Syndrome	Associate	19836009, 24940034, 32616716, 33484187
Weill Marchesani Syndrome	Associate	19836009, 24940034, 32616716

ADAMTS17 (ADAM metallopeptidase with thrombospondin type 1 motif 17)