BTD (biotinidase)

Gene

• Entrez ID: 686
• Gene name: Biotinidase
• Gene symbol: BTD
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3p25.1
• Summary: The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs13073139	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs13078881	G>C,T	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs28934601	A>G	Pathogenic	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs34885143	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs35034250	C>T	Benign-likely-benign, pathogenic, benign	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs35145938	C>A,T	Benign-likely-benign, pathogenic, benign	Stop gained, intron variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs35976361	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs80338684	GCGGCTG>TCC	Pathogenic	Frameshift variant, coding sequence variant
rs80338685	A>C	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs80338686	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs104893686	T>G	Pathogenic, likely-pathogenic, other	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs104893687	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893688	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs119103232	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs137877018	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138818907	C>T	Pathogenic	Missense variant, genic downstream transcript variant, intron variant, coding sequence variant
rs142421934	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant
rs145388314	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs146015592	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs146136265	C>A,G	Pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs146600671	G>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs151071780	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs181396238	G>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs181743799	G>A,C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs190386869	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs200337373	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs201604102	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs367902696	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs369102875	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs372687866	C>G,T	Pathogenic	Intron variant, synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
rs372844636	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs373249212	G>A,T	Likely-pathogenic	Splice donor variant
rs374141881	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs374681173	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs375712490	G>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507170	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs397507171	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs397507172	T>G	Pathogenic	Missense variant, coding sequence variant
rs397507173	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397507174	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397507175	G>A	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514333	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs397514334	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514335	G>A,C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514336	G>T	Pathogenic	Coding sequence variant, stop gained
rs397514337	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs397514338	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397514339	T>G	Pathogenic	Coding sequence variant, stop gained
rs397514340	G>A	Pathogenic	Missense variant, coding sequence variant
rs397514341	A>G	Pathogenic	Missense variant, coding sequence variant
rs397514343	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs397514345	A>C,G	Conflicting-interpretations-of-pathogenicity, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514348	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs397514349	C>T	Pathogenic	Coding sequence variant, stop gained
rs397514350	G>A	Pathogenic	Missense variant, coding sequence variant
rs397514351	G>T	Pathogenic	Missense variant, coding sequence variant
rs397514352	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397514353	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514355	T>G	Pathogenic	Missense variant, coding sequence variant
rs397514357	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs397514359	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs397514360	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, synonymous variant
rs397514362	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs397514363	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514367	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514369	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514370	A>G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514371	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514372	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514373	CGT>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant, intron variant
rs397514375	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514376	A>G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514377	A>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514378	G>A,C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514379	G>A,C	Pathogenic	Synonymous variant, intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs397514380	G>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514381	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514382	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514385	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514386	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514387	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514388	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514390	T>A,G	Pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, stop gained
rs397514391	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514392	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514393	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514394	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514395	T>-	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs397514398	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs397514399	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514401	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs397514402	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514404	ATCTCCACGTCT>-	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant, intron variant
rs397514405	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514406	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514408	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514409	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514410	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514412	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514413	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514414	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs397514415	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514416	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs397514417	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514418	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514419	G>A,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514422	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514423	T>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs397514424	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514425	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs397514426	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514428	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514429	G>A,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514430	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs397514432	G>A,C	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514433	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514434	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs397514436	G>C	Pathogenic	Missense variant, coding sequence variant
rs397514437	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514438	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs397514439	->A	Pathogenic	Coding sequence variant, frameshift variant
rs397514440	->G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs398123138	GGATG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs398123139	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs587783002	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs587783003	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587783004	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs587783005	C>G,T	Pathogenic-likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs587783006	A>C	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs587783007	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs587783008	T>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs672601248	GGGAAAGGAAGGCTA>NNNNNNNNNNN,TTCCAATGGCC	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs745343884	G>A,C,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs746099217	G>T	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs747548016	T>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, intron variant
rs749162799	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant
rs749460715	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs750363004	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant, missense variant, genic downstream transcript variant
rs750598655	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs750965140	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs760612966	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs765906887	GG>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs768097543	T>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs773137513	ACCTTATAAT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant
rs780874850	C>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs886041559	->C	Pathogenic, likely-pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs904882409	A>G	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs955385869	T>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs976185636	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1004027979	->TC	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1024847163	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1050035768	A>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs1057516223	->CATT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516252	G>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, stop gained
rs1057516812	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517225	AG>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1057517256	->TC	Likely-pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1057517362	G>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1057520533	C>T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs1064793757	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691897	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs1157567876	G>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs1190721481	T>A	Pathogenic	Intron variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1205964567	->ATCC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1277029090	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, genic downstream transcript variant
rs1306944669	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1336386457	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1344607767	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs1404904752	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553652080	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553652171	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1553652177	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553653053	G>T	Likely-pathogenic	Splice acceptor variant
rs1553653062	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553653680	C>-	Pathogenic-likely-pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1553653732	TTT>AGTA	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1553654107	C>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs1553654142	GC>-	Pathogenic-likely-pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1553654145	->A	Likely-pathogenic	Genic downstream transcript variant, stop gained, intron variant, coding sequence variant
rs1553654178	CTGTGGGGCAACTTCAGTAC>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1553654186	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, intron variant, coding sequence variant
rs1553654220	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1559596792	->TA	Pathogenic	Stop gained, coding sequence variant
rs1559596828	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1559599230	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1559599267	T>A	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs1559599378	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1559599682	A>G	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs1559600573	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs1559600871	G>T	Pathogenic	Genic downstream transcript variant, stop gained, intron variant, coding sequence variant
rs1559600895	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1559600938	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1559601041	C>G	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs1559601106	T>G	Pathogenic	Genic downstream transcript variant, stop gained, intron variant, coding sequence variant
rs1575013953	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575029290	AAATGTCGTGTTCAG>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, inframe deletion, coding sequence variant
rs1575029719	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1575029897	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT711068	hsa-miR-1267	HITS-CLIP	19536157
MIRT711067	hsa-miR-367-5p	HITS-CLIP	19536157
MIRT711066	hsa-miR-570-3p	HITS-CLIP	19536157
MIRT711065	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT711064	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT711068	hsa-miR-1267	HITS-CLIP	19536157
MIRT711067	hsa-miR-367-5p	HITS-CLIP	19536157
MIRT711066	hsa-miR-570-3p	HITS-CLIP	19536157
MIRT711065	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT711064	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT459557	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT459556	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT459555	hsa-miR-940	HITS-CLIP	23313552
MIRT695159	hsa-miR-3929	HITS-CLIP	23313552
MIRT695158	hsa-miR-4419b	HITS-CLIP	23313552
MIRT695157	hsa-miR-4478	HITS-CLIP	23313552
MIRT695156	hsa-miR-6125	HITS-CLIP	23313552
MIRT459551	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT459549	hsa-miR-1827	HITS-CLIP	23313552
MIRT459547	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT695155	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT660092	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT660091	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT660090	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT660089	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT660088	hsa-miR-4670-3p	HITS-CLIP	23824327
MIRT660087	hsa-miR-5100	HITS-CLIP	23824327
MIRT660086	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660085	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT660084	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT660083	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT459558	hsa-miR-302f	PAR-CLIP	23592263
MIRT459557	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT459556	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT459555	hsa-miR-940	PAR-CLIP	23592263
MIRT459554	hsa-miR-4257	PAR-CLIP	23592263
MIRT459553	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT459552	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT459551	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT459550	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT459549	hsa-miR-1827	PAR-CLIP	23592263
MIRT459548	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT459547	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT459546	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT459545	hsa-miR-1273e	PAR-CLIP	23592263
MIRT459544	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT442234	hsa-miR-664a-3p	PAR-CLIP	22100165
MIRT442233	hsa-miR-10b-3p	PAR-CLIP	22100165
MIRT442232	hsa-miR-4729	PAR-CLIP	22100165
MIRT442231	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT442230	hsa-miR-5696	PAR-CLIP	22100165
MIRT442229	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT442228	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT442234	hsa-miR-664a-3p	PAR-CLIP	22100165
MIRT442233	hsa-miR-10b-3p	PAR-CLIP	22100165
MIRT442232	hsa-miR-4729	PAR-CLIP	22100165
MIRT442231	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT442230	hsa-miR-5696	PAR-CLIP	22100165
MIRT442229	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT442228	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT711068	hsa-miR-1267	HITS-CLIP	19536157
MIRT711067	hsa-miR-367-5p	HITS-CLIP	19536157
MIRT711066	hsa-miR-570-3p	HITS-CLIP	19536157
MIRT711065	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT711064	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT711068	hsa-miR-1267	HITS-CLIP	19536157
MIRT711067	hsa-miR-367-5p	HITS-CLIP	19536157
MIRT711066	hsa-miR-570-3p	HITS-CLIP	19536157
MIRT711065	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT711064	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT459557	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT459556	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT459555	hsa-miR-940	HITS-CLIP	23313552
MIRT695159	hsa-miR-3929	HITS-CLIP	23313552
MIRT695158	hsa-miR-4419b	HITS-CLIP	23313552
MIRT695157	hsa-miR-4478	HITS-CLIP	23313552
MIRT695156	hsa-miR-6125	HITS-CLIP	23313552
MIRT459551	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT459549	hsa-miR-1827	HITS-CLIP	23313552
MIRT459547	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT695155	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT660092	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT660091	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT660090	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT660089	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT660088	hsa-miR-4670-3p	HITS-CLIP	23824327
MIRT660087	hsa-miR-5100	HITS-CLIP	23824327
MIRT660086	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660085	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT660084	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT660083	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT459558	hsa-miR-302f	PAR-CLIP	23592263
MIRT459557	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT459556	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT459555	hsa-miR-940	PAR-CLIP	23592263
MIRT459554	hsa-miR-4257	PAR-CLIP	23592263
MIRT459553	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT459552	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT459551	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT459550	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT459549	hsa-miR-1827	PAR-CLIP	23592263
MIRT459548	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT459547	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT459546	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT459545	hsa-miR-1273e	PAR-CLIP	23592263
MIRT459544	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT442234	hsa-miR-664a-3p	PAR-CLIP	22100165
MIRT442233	hsa-miR-10b-3p	PAR-CLIP	22100165
MIRT442232	hsa-miR-4729	PAR-CLIP	22100165
MIRT442231	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT442230	hsa-miR-5696	PAR-CLIP	22100165
MIRT442229	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT442228	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT442234	hsa-miR-664a-3p	PAR-CLIP	22100165
MIRT442233	hsa-miR-10b-3p	PAR-CLIP	22100165
MIRT442232	hsa-miR-4729	PAR-CLIP	22100165
MIRT442231	hsa-miR-340-5p	PAR-CLIP	22100165
MIRT442230	hsa-miR-5696	PAR-CLIP	22100165
MIRT442229	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT442228	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT826866	hsa-miR-4435	CLIP-seq
MIRT826867	hsa-miR-4708-3p	CLIP-seq
MIRT826868	hsa-miR-505	CLIP-seq
MIRT1944681	hsa-miR-1227	CLIP-seq
MIRT1944682	hsa-miR-3064-3p	CLIP-seq
MIRT1944683	hsa-miR-4299	CLIP-seq
MIRT1944684	hsa-miR-4456	CLIP-seq
MIRT1944685	hsa-miR-548q	CLIP-seq
MIRT2183097	hsa-miR-130a	CLIP-seq
MIRT2183098	hsa-miR-130b	CLIP-seq
MIRT2183099	hsa-miR-301a	CLIP-seq
MIRT2183100	hsa-miR-301b	CLIP-seq
MIRT2183101	hsa-miR-3158-3p	CLIP-seq
MIRT2183102	hsa-miR-3190	CLIP-seq
MIRT2183103	hsa-miR-3666	CLIP-seq
MIRT2183104	hsa-miR-4293	CLIP-seq
MIRT2183105	hsa-miR-4295	CLIP-seq
MIRT2183106	hsa-miR-454	CLIP-seq
MIRT2183107	hsa-miR-519a	CLIP-seq
MIRT2183108	hsa-miR-519b-3p	CLIP-seq
MIRT2183109	hsa-miR-519c-3p	CLIP-seq
MIRT2183110	hsa-miR-596	CLIP-seq
MIRT2486663	hsa-miR-3125	CLIP-seq
MIRT2486664	hsa-miR-3672	CLIP-seq
MIRT2486665	hsa-miR-3916	CLIP-seq
MIRT2486666	hsa-miR-4453	CLIP-seq
MIRT2486667	hsa-miR-4474-3p	CLIP-seq
MIRT2486668	hsa-miR-4538	CLIP-seq
MIRT2486669	hsa-miR-4640-3p	CLIP-seq
MIRT2486670	hsa-miR-4786-5p	CLIP-seq
MIRT2486671	hsa-miR-576-3p	CLIP-seq
MIRT2486672	hsa-miR-577	CLIP-seq
MIRT2486673	hsa-miR-769-5p	CLIP-seq
MIRT2486674	hsa-miR-877	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006768	Process	Biotin metabolic process	IBA
GO:0006768	Process	Biotin metabolic process	TAS
GO:0007417	Process	Central nervous system development	TAS	7550325
GO:0016787	Function	Hydrolase activity	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0047708	Function	Biotinidase activity	IEA
GO:0047708	Function	Biotinidase activity	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 609019
• HGNC: 1122
• e!Ensembl: ENSG00000169814

Protein

• UniProt ID: P43251
• Protein name: Biotinidase (Biotinase) (EC 3.5.1.12)
• Protein function: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00795	CN_hydrolase	75 → 303	Carbon-nitrogen hydrolase	Family
  PF19018	Vanin_C	392 → 543	Vanin C-terminal domain	Domain

• Sequence:

  MAHAHIQGGRRAKSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVA
  AVYEHPSILSLNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNF
  TRTSIYPFLDFMPSPQVVRWNPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCH
  SSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPLKVDLITFDTPFAGRF
  GIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAAN
  VHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSK
  FLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSN
  GLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATG
  IFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLY
  ERD

• Sequence length: 543

Pathways

KEGG:

Biotin metabolism
Metabolic pathways
Vitamin digestion and absorption

Reactome:

Biotin transport and metabolism
Defective BTD causes biotidinase deficiency

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Biotinidase deficiency	Likely pathogenic; Pathogenic	rs745648160, rs2125453296, rs2125486425, rs2125502078, rs2125504069, rs2125500629, rs2125500236, rs2065662435, rs766476582, rs2125503248, rs2065635815, rs2125500515, rs587783004, rs587783005, rs587783006, rs587783007, rs587783008, rs80338684, rs104893688, rs80338686, rs119103232, rs28934601, rs80338685, rs2471521697, rs767518580, rs104893687, rs2471510851, rs2471443659, rs2471442152, rs2065328619, rs2065521315, rs1205964567, rs672601248, rs200507575, rs745343884, rs779141922, rs2471515729, rs2471489744, rs2471515479, rs2471491093, rs2471517581, rs2471512698, rs201823743, rs2471518172, rs2471516926, rs886041559, rs773350924, rs2471514282, rs2471441898, rs2471509696, rs1303877451, rs104893692, rs2471439426, rs2471509283, rs2471439603, rs2471519395, rs1559592900, rs2471512475, rs2471517424, rs377651057, rs2471523531, rs2471511997, rs1553653888, rs780281959, rs2471440173, rs2471441254, rs2471512663, rs2471438307, rs2471515333, rs397514440, rs2471516565, rs2471487911, rs746332288, rs2471439812, rs1057516440, rs1057517114, rs1057516812, rs373249212, rs1057516223, rs1057516252, rs1057517256, rs1057517225, rs1057517362, rs765906887, rs397514401, rs397514335, rs397514336, rs397514339, rs397514341, rs397514347, rs151071780, rs397514348, rs397514350, rs397514352, rs375712490, rs397514360, rs397514362, rs397514363, rs397514364, rs397514367, rs397514369, rs397514370, rs397514371, rs397514375, rs190386869, rs397514379, rs397514381, rs397514382, rs397514383, rs397514384, rs397514387, rs397514388, rs397514389, rs397514393, rs397514394, rs397514395, rs397514396, rs397514398, rs397514402, rs397514406, rs397514408, rs397514410, rs397514412, rs397514415, rs397514416, rs397514418, rs146600671, rs181396238, rs201604102, rs397514423, rs138818907, rs397514425, rs397514428, rs397514429, rs397514431, rs146136265, rs200337373, rs1057520533, rs746099217, rs1157567876, rs369102875, rs397514345, rs397507174, rs397507175, rs146015592, rs397507170, rs397514334, rs397514343, rs397514434, rs397514404, rs397514436, rs1553653680, rs1553653062, rs1306944669, rs773137513, rs747548016, rs760612966, rs1553654178, rs1163419871, rs1553653732, rs1553654145, rs1553654220, rs1050514843, rs1553654142, rs1553652080, rs1277029090, rs1553653053, rs749162799, rs1559600938, rs397514356, rs1404904752, rs397514365, rs750363004, rs397514373, rs148031701, rs1004027979, rs397514411, rs397514420, rs1559601041, rs780874850, rs1559600871, rs1249246307, rs2064260290, rs750965140, rs1575013953, rs955385869, rs1575029719, rs1575029897, rs1344607767, rs1575029290, rs2065521862, rs1204990361, rs1210441433, rs398123138, rs398123139, rs398123140	RCV001379913 RCV001389326 RCV001381017 RCV001380155 RCV001784055 RCV001784056 RCV001845039 RCV001904240 RCV001928662 RCV002002455 RCV001916129 RCV001960500 RCV000144059 RCV000144060 RCV000144061 RCV000144062 RCV000144063 RCV000001972 RCV000001974 RCV000001975 RCV000001976 RCV000001978 RCV000001979 RCV002466295 RCV002466297 RCV000001982 RCV002281633 RCV005416042 RCV002306715 RCV002310397 RCV002470024 RCV000169475 RCV000169138 RCV003061466 RCV002664293 RCV002664295 RCV002510473 RCV002586446 RCV000409281 RCV002814793 RCV002870804 RCV002856318 RCV002904082 RCV002943555 RCV003053974 RCV003135875 RCV000411318 RCV003233062 RCV003474453 RCV003474456 RCV003474457 RCV003474462 RCV003474464 RCV003474467 RCV003485996 RCV003486506 RCV003498107 RCV003499921 RCV003499924 RCV003498630 RCV003600609 RCV003600684 RCV003602106 RCV003602392 RCV003600057 RCV003601990 RCV004547219 RCV004576177 RCV004575466 RCV004575467 RCV004575468 RCV004575469 RCV004575470 RCV004575472 RCV004575473 RCV004587993 RCV000410337 RCV000411884 RCV000412426 RCV000411926 RCV000409760 RCV000410710 RCV000410177 RCV000410764 RCV000411441 RCV000410785 RCV000987127 RCV004575471 RCV003475304 RCV003474466 RCV003474461 RCV005198251 RCV000021909 RCV003474470 RCV000021911 RCV002651644 RCV000021916 RCV003499922 RCV000021918 RCV000021928 RCV000021930 RCV000021931 RCV000021934 RCV000021938 RCV000021940 RCV000021942 RCV002664294 RCV000021947 RCV000021953 RCV003474454 RCV000021958 RCV000021960 RCV000021961 RCV000021962 RCV000021965 RCV000021966 RCV000021967 RCV003499928 RCV005139558 RCV000021974 RCV000021976 RCV000021980 RCV000022007 RCV002651648 RCV000021994 RCV000021996 RCV000021998 RCV000022000 RCV002651649 RCV000022005 RCV000022008 RCV002651650 RCV000022014 RCV000022015 RCV000022017 RCV000022019 RCV000022020 RCV003499930 RCV000022024 RCV000022026 RCV000022028 RCV003499923 RCV000675056 RCV000675116 RCV000715008 RCV000537387 RCV000524591 RCV000021949 RCV000021959 RCV000021904 RCV000021895 RCV001975221 RCV000021905 RCV000032015 RCV000032016 RCV000032017 RCV000032023 RCV000633683 RCV000669656 RCV000672734 RCV000666133 RCV000665777 RCV000667458 RCV000669535 RCV000668694 RCV000673413 RCV000668358 RCV000672895 RCV000667343 RCV000674623 RCV000664888 RCV000672288 RCV000666795 RCV000669098 RCV000672281 RCV000696396 RCV000693060 RCV000021922 RCV003474465 RCV003991934 RCV000714997 RCV001868341 RCV003155628 RCV003475096 RCV003135874 RCV001947003 RCV003474468 RCV000721974 RCV001065482 RCV000778682 RCV000794161 RCV000987128 RCV000987129 RCV000987131 RCV000987132 RCV000987133 RCV000987134 RCV001030027 RCV001195863 RCV001203912 RCV001251432 RCV001251433 RCV000178031 RCV000144058 RCV001299844 RCV001301669	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BTD-related disorder	Likely pathogenic; Pathogenic	rs104893688, rs80338686, rs119103232, rs80338685, rs397514375, rs397514423, rs397514345, rs398123139	RCV004751190 RCV003421895 RCV004751191 RCV004751193 RCV003415728 RCV003398555 RCV004751584 RCV003905037	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs397507170	RCV005888842	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptorchidism	Pathogenic	rs765906887	RCV000415039	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Pathogenic	rs765906887	RCV000415039	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs765906887	RCV000415039	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs80338685, rs397514389	RCV001251700 RCV001251702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Pathogenic	rs765906887	RCV000415039	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Possible mitochondrial disorder - nuclear genes	Likely pathogenic; Pathogenic	rs397514345	RCV005859346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations