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	11093
Gene name	ADAM metallopeptidase with thrombospondin type 1 motif 13
Gene symbol	ADAMTS13
Synonyms (NCBI Gene)	ADAM-TS13ADAMTS-13C9orf8VWFCPvWF-CP
Chromosome	9
Chromosome location	9q34.2
Summary	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

499

Show/Hide all (499)

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 (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	EXP	12775718, 18983500, 31439947
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS
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:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	11535495
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007160	Process	Cell-matrix adhesion	NAS	11557746
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	11557746
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0007599	Process	Hemostasis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
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:0016787	Function	Hydrolase activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030168	Process	Platelet activation	NAS	11557746
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	TAS	11557746
GO:0034341	Process	Response to type II interferon	IEA
GO:0034612	Process	Response to tumor necrosis factor	IEA
GO:0035864	Process	Response to potassium ion	IEA
GO:0043171	Process	Peptide catabolic process	IDA	11535495
GO:0046872	Function	Metal ion binding	IEA
GO:0070670	Process	Response to interleukin-4	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071346	Process	Cellular response to type II interferon	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

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

425

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Pathogenic	rs748223519	RCV001270504
ADAMTS13-related disorder	Likely pathogenic; Pathogenic	rs1564422441, rs782242503, rs2491124231, rs2491164601, rs142572218, rs281875287	RCV003399196 RCV003402848 RCV003394368 RCV003427824 RCV003952487 RCV003894915
Thrombocytopenia	Pathogenic	rs748223519	RCV001270504
Thrombotic thrombocytopenic purpura	Pathogenic; Likely pathogenic	rs2491349636, rs121908470, rs121908472, rs2491047604, rs2491103284, rs1554791280, rs281875299, rs142572218	RCV004700837 RCV006268071 RCV004700192 RCV003493333 RCV004587743 RCV000677341 RCV000852051 RCV002469002
Upshaw-Schulman syndrome	Likely pathogenic; Pathogenic	rs374840594, rs782649881, rs1474290508, rs1841759683, rs2130845614, rs201457594, rs1554796161, rs200847393, rs2130769073, rs1554795391, rs376606652, rs2490464967, rs1840019690, rs374655146, rs782288601 View all (41 more)	RCV005040297 RCV005040301 RCV001536088 RCV001729960 RCV001729961 RCV001785886 RCV003990476 RCV005040408 RCV002223117 RCV002274487 RCV002274488 RCV002283699 RCV002283959 RCV002468903 RCV005045192 RCV000006154 RCV000006155 RCV000006156 RCV000006157 RCV000006158 RCV000006159 RCV000006161 RCV000006162 RCV000006163 RCV000006164 RCV000006165 RCV000006167 RCV000006168 RCV000006171 RCV000006173 RCV000006174 RCV000006175 RCV000006176 RCV000006177 RCV003225617 RCV003338169 RCV005047576 RCV005047630 RCV005040489 RCV003990403 RCV004545919 RCV000454327 RCV000505689 RCV000505577 RCV000778876 RCV000826095 RCV000988285 RCV005859492 RCV005042186 RCV000779575 RCV005042187 RCV000779576 RCV005042188 RCV002221146 RCV000516791 RCV003313775

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs36220240, rs375508823, rs117943654	RCV001328115 RCV001328113 RCV001328114
Cervical cancer	Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs36220235, rs28517680, rs36219902, rs149517360, rs781888317	RCV005916674 RCV005921993 RCV005900508 RCV005907947 RCV005908871
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs36220235	RCV005916682
Familial cancer of breast	Benign	rs149517360	RCV005907946
Familial pancreatic carcinoma	Benign	rs36220235	RCV005916676
Gastric cancer	Benign	rs28517680	RCV005921995
Lymphoma	Benign	rs36220235	RCV005916678
Malignant lymphoma, large B-cell, diffuse	Benign	rs149517360	RCV005907948
Malignant tumor of esophagus	Benign	rs36220235, rs28517680	RCV005916672 RCV005921992
Malignant tumor of urinary bladder	-	rs782169236	RCV005931706
Nonpapillary renal cell carcinoma	Benign	rs36220235	RCV005916673
Ovarian cancer	Benign	rs36220235	RCV005916675
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	rs145825553, rs149517360	RCV005901184 RCV005907949
Sarcoma	Benign; Likely benign	rs36220235, rs28517680, rs781989547, rs377683598	RCV005916677 RCV005921994 RCV005930503 RCV005930646
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs762112077, rs782230828, rs145825553	RCV002287681 RCV004584566 RCV003128409
Three Vessel Coronary Disease	Benign	rs1055432, rs3780809, rs652600, rs671410, rs4962153	RCV001003432 RCV001003433 RCV001003435 RCV001003434 RCV001003436
Thrombus	Uncertain significance; Conflicting classifications of pathogenicity	rs782497226, rs1395774284, rs140639242	RCV002280943 RCV002280951 RCV002280897
Thymoma	Benign	rs36220235, rs28517680	RCV005916680 RCV005921997
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs587726180	RCV005935092
Uterine carcinosarcoma	Benign	rs36220235, rs28517680	RCV005916679 RCV005921996
Uterine corpus endometrial carcinoma	Benign	rs36220235, rs28517680, rs149517360	RCV005916681 RCV005921998 RCV005907950

Show/Hide Text Mining Associations (93)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)