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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11093
Gene name Gene Name - the full gene name approved by the HGNC.	ADAM metallopeptidase with thrombospondin type 1 motif 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADAMTS13
Synonyms (NCBI Gene) Gene synonyms aliases	ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Wille

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2301612	C>A,G	Pathogenic, benign	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs36220240	C>T	Likely-benign, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant, synonymous variant
rs121908467	C>G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant, missense variant
rs121908468	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs121908469	C>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant, missense variant
rs121908470	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121908471	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs121908472	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs121908473	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908474	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs121908475	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs121908476	C>G,T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant, missense variant
rs121908477	G>C,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, upstream transcript variant, missense variant
rs121908478	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, upstream transcript variant, missense variant
rs142572218	C>A,T	Not-provided, pathogenic	Missense variant, downstream transcript variant, genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs148312697	G>C	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs192619276	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs281875287	C>T	Likely-pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs281875299	C>T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs281875302	G>A	Likely-pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant
rs281875305	G>A	Pathogenic, not-provided	Synonymous variant, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs281875307	A>G,T	Likely-pathogenic, not-provided	Intron variant, missense variant, coding sequence variant
rs375415632	G>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice donor variant
rs387906341	->T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs387906342	AGCTGTGGCGCTGGAAACCTGCAACC>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs387906344	TT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906345	GGAGGACACAGAGCGCTATGTGCTCACCA>-	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, frameshift variant, non coding transcript variant
rs387906346	TGCCCG>-	Pathogenic	Inframe indel, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs782235228	G>A	Pathogenic	Intron variant
rs786205077	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs786205078	G>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1057520680	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1060499780	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs1554785114	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, intron variant
rs1554785242	G>T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1554789680	G>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554791280	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1588198044	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610470	hsa-miR-1538	HITS-CLIP	19536157
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610470	hsa-miR-1538	HITS-CLIP	19536157
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610470	hsa-miR-1538	HITS-CLIP	19536157
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610470	hsa-miR-1538	HITS-CLIP	19536157
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	19536157
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT610468	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT610473	hsa-miR-181c-3p	HITS-CLIP	23824327
MIRT610472	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT610471	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT610470	hsa-miR-1538	HITS-CLIP	23824327
MIRT610469	hsa-miR-4745-3p	HITS-CLIP	23824327
MIRT610468	hsa-miR-296-5p	HITS-CLIP	23824327
MIRT610467	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610466	hsa-miR-6724-5p	HITS-CLIP	23824327
MIRT610465	hsa-miR-6773-5p	HITS-CLIP	23824327
MIRT766366	hsa-miR-3978	CLIP-seq
MIRT766367	hsa-miR-4329	CLIP-seq
MIRT766368	hsa-miR-4786-5p	CLIP-seq
MIRT766369	hsa-miR-769-5p	CLIP-seq
MIRT766366	hsa-miR-3978	CLIP-seq
MIRT766367	hsa-miR-4329	CLIP-seq
MIRT766368	hsa-miR-4786-5p	CLIP-seq
MIRT766369	hsa-miR-769-5p	CLIP-seq
MIRT2443148	hsa-miR-1224-3p	CLIP-seq
MIRT2443149	hsa-miR-4286	CLIP-seq
MIRT2443150	hsa-miR-4640-3p	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005178	Function	Integrin binding	TAS	11557746
GO:0005509	Function	Calcium ion binding	TAS	11557746
GO:0005515	Function	Protein binding	IPI	12775718, 16221672, 18492805, 25512528
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006508	Process	Proteolysis	IDA	11535495
GO:0007160	Process	Cell-matrix adhesion	NAS	11557746
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	11557746
GO:0008237	Function	Metallopeptidase activity	TAS	11557746
GO:0008270	Function	Zinc ion binding	TAS	11557746
GO:0009100	Process	Glycoprotein metabolic process	NAS	11557746
GO:0009636	Process	Response to toxic substance	IEA
GO:0009986	Component	Cell surface	NAS	11557746
GO:0014075	Process	Response to amine	IEA
GO:0016485	Process	Protein processing	TAS	11557746
GO:0030168	Process	Platelet activation	NAS	11557746
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031012	Component	Extracellular matrix	TAS	11557746
GO:0035864	Process	Response to potassium ion	IEA
GO:0043171	Process	Peptide catabolic process	IDA	11535495
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071346	Process	Cellular response to interferon-gamma	IEA
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA

MIM	HGNC	e!Ensembl
604134	1366	ENSG00000160323

Protein

UniProt ID

Q76LX8

Protein name

A disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAM-TS 13) (ADAM-TS13) (ADAMTS-13) (EC 3.4.24.87) (von Willebrand factor-cleaving protease) (vWF-CP) (vWF-cleaving protease)

Protein function

Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.

PDB

3GHM , 3GHN , 3VN4 , 6QIG , 7B01

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01421	Reprolysin	81 → 286	Reprolysin (M12B) family zinc metalloprotease	Domain
PF17771	ADAM_CR_2	301 → 372	ADAM cysteine-rich domain	Domain
PF00090	TSP_1	388 → 438	Thrombospondin type 1 domain	Domain
PF19030	TSP1_ADAMTS	746 → 804		Domain
PF19030	TSP1_ADAMTS	955 → 1012		Domain
PF19030	TSP1_ADAMTS	1016 → 1072		Domain
PF19030	TSP1_ADAMTS	1076 → 1130		Domain

Tissue specificity

TISSUE SPECIFICITY: Plasma. Expressed primarily in liver. {ECO:0000269|PubMed:11574066}.

Sequence

MHQRHPRARCPPLCVAGILACGFLLGCWGPSHFQQSCLQALEPQAVSSYLSPGAPLKGRP
PSPGFQRQRQRQRRAAGGILHLELLVAVGPDVFQAHQEDTERYVLTNLNIGAELLRDPSL
GAQFRVHLVKMVILTEPEGAPNITANLTSSLLSVCGWSQTINPEDDTDPGHADLVLYITR
FDLELPDGNRQVRGVTQLGGACSPTWSCLITEDTGFDLGVTIAHEIGHSFGLEHDGAPGS
GCGPSGHVMASDGAAPRAGLAWSPCSRRQLLSLLSAGRARCVWDPPRPQPGSAGHPPDAQ
PGLYYSANEQCRVAFGPKAVACTFAREHLDMCQALSCHTDPLDQSSCSRLLVPLLDGTEC
GVEKWCSKGRCRSLVELTPIAAVHGRWSSWGPRSPCSRSCGGGVVTRRRQCNNPRPAFGG
RACVGADLQAEMCNTQACEKTQLEFMSQQCARTDGQPLRSSPGGASFYHWGAAVPHSQGD
ALCRHMCRAIGESFIMKRGDSFLDGTRCMPSGPREDGTLSLCVSGSCRTFGCDGRMDSQQ
VWDRCQVCGGDNSTCSPRKGSFTAGRAREYVTFLTVTPNLTSVYIANHRPLFTHLAVRIG
GRYVVAGKMSISPNTTYPSLLEDGRVEYRVALTEDRLPRLEEIRIWGPLQEDADIQVYRR
YGEEYGNLTRPDITFTYFQPKPRQAWVWAAVRGPCSVSCGAGLRWVNYSCLDQARKELVE
TVQCQGSQQPPAWPEACVLEPCPPYWAVGDFGPCSASCGGGLRERPVRCVEAQGSLLKTL
PPARCRAGAQQPAVALETCNPQPCPARWEVSEPSSCTSAGGAGLALENETCVPGADGLEA
PVTEGPGSVDEKLPAPEPCVGMSCPPGWGHLDATSAGEKAPSPWGSIRTGAQAAHVWTPA
AGSCSVSCGRGLMELRFLCMDSALRVPVQEELCGLASKPGSRREVCQAVPCPARWQYKLA
ACSVSCGRGVVRRILYCARAHGEDDGEEILLDTQCQGLPRPEPQEACSLEPCPPRWKVMS
LGPCSASCGLGTARRSVACVQLDQGQDVEVDEAACAALVRPEASVPCLIADCTYRWHVGT
WMECSVSCGDGIQRRRDTCLGPQAQAPVPADFCQHLPKPVTVRGCWAGPCVGQGTPSLVP
HEEAAAPGRTTATPAGASLEWSQARGLLFSPAPQPRRLLPGPQENSVQSSACGRQHLEPT
GTIDMRGPGQADCAVAIGRPLGEVVTLRVLESSLNCSAGDMLLLWGRLTWRKMCRKLLDM
TFSSKTNTLVVRQRCGRPGGGVLLRYGSQLAPETFYRECDMQLFGPWGEIVSPSLSPATS
NAGGCRLFINVAPHARIAIHALATNMGAGTEGANASYILIRDTHSLRTTAFHGQQVLYWE
SESSQAEMEFSEGFLKAQASLRGQYWTLQSWVPEMQDPQSWKGKEGT

Sequence length

1427

Interactions

View interactions

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

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Hemolytic uremic syndrome	Hemolytic-Uremic Syndrome	rs398124292, rs121964913, rs33972593, rs460897, rs121909590, rs121909583, rs460184, rs104886189, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868 View all (24 more)
Thrombotic thrombocytopenic purpura	Purpura, Thrombotic Thrombocytopenic, Familial Thrombotic Thrombocytopenic Purpura	rs121908472, rs281875299, rs142572218, rs1554791280	12656756, 15521921, 11586351

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ischemic stroke	Ischemic stroke		28495826	ClinVar

Show/Hide Text Mining Associations (93)

Disease Name	Relationship Type	References
Associations from Text Mining
Abortion Habitual	Associate	28088271
Abortion Spontaneous	Associate	36889591
Acute Coronary Syndrome	Associate	36474435
Acute Kidney Injury	Associate	16189276, 25523333, 26342041
Anemia	Associate	19786614, 32496441
Anemia Hemolytic	Associate	12393505, 32197596
Atrial Fibrillation	Associate	23872162, 32196618, 36474435
Atypical Hemolytic Uremic Syndrome	Associate	21103695, 23847193, 26559391, 26830967, 35619721
Blood Coagulation Disorders	Associate	35667091, 36980889, 37085521
Blood Platelet Disorders	Associate	15009458, 15521921, 18443791, 19786614, 32588586
Carcinoma Hepatocellular	Inhibit	30537115
Cardiomyopathy Dilated	Associate	20378566
Cardiotoxicity	Associate	36111515
Cardiovascular Diseases	Associate	23733198, 27514025, 36474435
Carotid Artery Diseases	Associate	36142883
Carotid Stenosis	Associate	32932544
Cerebral Infarction	Associate	23872162, 36474435
Cerebral Palsy	Associate	32932544, 36474435
Chronic Kidney Disease Mineral and Bone Disorder	Associate	26342041
Complement Factor H Deficiency	Associate	33845193, 35619721
Corneal Endothelial Cell Loss	Inhibit	38149559
Coronary Artery Disease	Associate	25937569
COVID 19	Associate	33845193, 35521725, 35746657, 35875995, 36980889, 37085521
Death	Inhibit	35864532
Diabetes Mellitus	Associate	23733198, 30099840
Diabetes Mellitus Type 2	Associate	23733198
Diarrhea prodrome + Hemolytic Uremic Syndrome	Associate	21488199
Disseminated Intravascular Coagulation	Associate	16189276
Encephalomyelitis Acute Disseminated	Associate	34685765
Epilepsy	Associate	12753286
Evans Syndrome	Associate	12393505
Factor XIII Deficiency	Inhibit	26342041
Genetic Diseases Inborn	Inhibit	26684918, 32471388
HELLP Syndrome	Associate	19190814
Hematologic Neoplasms	Associate	30626079
Hematuria	Associate	12753286
Hemolytic Uremic Syndrome	Associate	15126318, 15327386, 21488199, 29084740
Hemorrhage	Associate	18725999
Hemostatic Disorders	Associate	30099840
Hyperbilirubinemia Neonatal	Associate	14563640
Hypertension	Associate	32196618
Immune System Diseases	Associate	35875995
Immunologic Deficiency Syndromes	Inhibit	12753286, 15367436, 16160007, 18443791, 19116307, 21103695, 33171004, 37850618
Immunologic Deficiency Syndromes	Associate	15367436, 16160007, 18835837, 19116307, 23847193, 25671313, 26559391, 37850618
Infections	Associate	28207543
Inflammation	Associate	25422322, 28207543
Intracranial Thrombosis	Associate	37175682
Ischemic Attack Transient	Associate	32932544
Kidney Diseases	Associate	26342041, 39614241
Kidney Failure Chronic	Associate	23872162
Malaria Cerebral	Associate	22168261
Melanoma	Associate	37258039
Microvascular Angina	Associate	15009458, 17146059
Myocardial Ischemia	Associate	30099840
Neoplasms	Associate	24853254, 28207543, 39445568
Neoplasms	Inhibit	30537115
Neoplasms Plasma Cell	Associate	11557746
Neoplasms Vascular Tissue	Associate	36281781
Neoplastic Syndromes Hereditary	Associate	26566785, 34237177
Oligospermia	Associate	19190814
Pelvic Organ Prolapse	Associate	34973089
Post Acute COVID 19 Syndrome	Associate	35875995
Pre Eclampsia	Associate	19190814
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28207543
Proteinuria	Associate	12753286
Pulmonary Embolism	Associate	23872162, 30655285
Purpura Thrombocytopenic	Associate	32197596
Purpura Thrombocytopenic Idiopathic	Associate	12393505, 39614241
Purpura Thrombotic Thrombocytopenic	Associate	11557746, 11586351, 12393399, 12393505, 12576319, 12753286, 12869506, 14512308, 14563640, 14982879, 15009458, 15126318, 15327386, 15367436, 15521921 View all (79 more)
Purpura Thrombotic Thrombocytopenic	Inhibit	37689812
Renal Insufficiency	Associate	16189276
Respiratory Distress Syndrome	Associate	19812385
Sepsis	Associate	16189276, 19812385
Stroke	Associate	32932544, 40650005
Subarachnoid Hemorrhage	Associate	29077161
Systemic Inflammatory Response Syndrome	Associate	25422322
T Lymphocytopenia Idiopathic CD4 Positive	Inhibit	15126318
Thrombocytopenia	Associate	19786614, 23872162, 32197596, 32496441
Thromboembolism	Associate	32817637
Thromboinflammation	Associate	35875995
Thrombosis	Associate	11781222, 23648131, 27514025, 32588586, 34685765, 36980889
Thrombotic Microangiopathies	Associate	11781222, 22611154, 23555663, 26559391, 27762046, 31916721, 32588586
Thrombotic thrombocytopenic purpura acquired	Associate	20378566, 26747250, 27040144
Thrombotic thrombocytopenic purpura acquired	Inhibit	25261198
Vascular Diseases	Associate	15521921
Venous Thromboembolism	Associate	37085521, 38225166
Venous Thrombosis	Associate	20682599, 23648131, 26982741, 27802307, 34662354, 38149559
von Willebrand Disease Type 1	Associate	14525793
von Willebrand Disease Type 2	Associate	15219197, 16322474, 17087728, 18725999, 20351307, 29186156
von Willebrand Disease Type 3	Associate	22431572
von Willebrand Diseases	Associate	14525793, 20351307, 29186156, 32588586
Von willebrand factor deficiency	Associate	12576319, 28207543
Wounds and Injuries	Associate	38149559

ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)