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

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Biotinidase Deficiency	biotinidase deficiency	rs1057516440, rs397514418, rs397514341, rs1050035768, rs397514367, rs1553653680, rs200337373, rs397514394, rs80338686, rs397514373, rs398123139, rs1057517114, rs146600671, rs151071780, rs750965140, rs397514369, rs1553653062, rs1553654142, rs397507174, rs397514395, rs119103232, rs148031701, rs587783004, rs1057516812, rs181396238, rs397514348, rs1575013953, rs397514371, rs1306944669, rs1553652080, rs397507175, rs397514398, rs28934601, rs1004027979, rs587783005, rs373249212, rs201604102, rs397514350, rs955385869, rs397514375, rs773137513, rs1277029090, rs146015592, rs397514402, rs80338685, rs397514411, rs587783006, rs1057516223, rs397514423, rs397514352, rs1575029719, rs190386869, rs747548016, rs1553653053, rs397507170, rs397514406, rs397514420, rs587783007, rs1575029897, rs1057516252, rs138818907, rs397514379, rs760612966, rs749162799, rs397514334, rs397514410, rs104893687, rs1559601041, rs587783008, rs1344607767, rs1057517256, rs397514425, rs375712490, rs397514381, rs1553654178, rs1559600938, rs397514434, rs397514412, rs397514401, rs780874850, rs1205964567, rs1575029290, rs1057517225, rs397514428, rs397514360, rs397514383, rs1553653732, rs397514356, rs397514404, rs672601248, rs397514335, rs1559600871, rs1057517362, rs397514429, rs397514362, rs397514387, rs1553654145, rs1404904752, rs397514436, rs397514415, rs397514336, rs1249246307, rs765906887, rs397514431, rs397514363, rs397514388, rs1553654220, rs80338684, rs397514365, rs397514440, rs886041559, rs397514416, rs397514339, rs2064260290, rs1057520533, rs146136265, rs397514364, rs397514393, rs1050514843, rs104893688, rs750363004, rs398123138	N/A
Mental retardation	intellectual disability	rs80338685	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Developmental Delay	global developmental delay	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	35032020
Alopecia	Associate	11924114
Alzheimer Disease	Inhibit	35887259
Behcet Syndrome	Associate	28498829
Biotin deficiency	Associate	15623830
Biotinidase Deficiency	Inhibit	15060693, 33452876, 7509806
Biotinidase Deficiency	Associate	25174816, 26400555, 27329734, 28498829, 29728376, 29995633, 30968642, 33452876, 35032020, 35099446, 35627187, 35805799, 36759144, 37895316, 39582447, 39688110
Biotinidase Deficiency	Stimulate	30968642
Brain Diseases	Associate	11924114
Carcinoma Ovarian Epithelial	Associate	27378695
Deafness	Associate	11924114
Dermatitis	Associate	11924114
Epilepsy	Associate	11924114
Glomerulonephritis Membranous	Associate	37511514
Hearing Loss	Associate	32727382
Holocarboxylase Synthetase Deficiency	Associate	32727382
Hyperventilation	Associate	35032020
Idiopathic subglottic tracheal stenosis	Associate	32619300
Immune System Diseases	Associate	30968642
Intracranial Aneurysm	Inhibit	40294794
Jaundice	Associate	25174816
Jaundice Neonatal	Associate	28498829
Lymphatic Metastasis	Associate	21319141
Muscle Hypotonia	Associate	35032020
Muscle Spasticity	Associate	35032020
Neoplasm Metastasis	Inhibit	22911723
Optic Atrophy	Associate	11924114
Optic Nerve Hypoplasia Bilateral	Associate	1739323
Personality Disorders	Inhibit	22911723
Poikiloderma with Neutropenia	Associate	37511514
Thyroid Cancer Papillary	Inhibit	22911723
Thyroid Neoplasms	Associate	22911723
Thyroid Nodule	Associate	30968642
Triple Negative Breast Neoplasms	Associate	40545963
Tuberculosis	Associate	30968642
Vaginal Discharge	Associate	30968642