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	9896
Gene name	FIG4 phosphoinositide 5-phosphatase
Gene symbol	FIG4
Synonyms (NCBI Gene)	ALS11BOPBTOPCMT4JKIAA0274SAC3YVSdJ249I4.1
Chromosome	6
Chromosome location	6q21
Summary	The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. T

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121908287	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs121908288	C>A,T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, synonymous variant
rs121908290	G>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs142482745	C>G,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant, downstream transcript variant
rs150301327	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs199522051	T>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Intron variant
rs201138266	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, downstream transcript variant, synonymous variant, genic downstream transcript variant
rs377357931	C>T	Pathogenic	Coding sequence variant, stop gained
rs397509394	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397509395	G>A	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, intron variant
rs397514707	T>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs587777714	G>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs587777715	A>G,T	Uncertain-significance, pathogenic	Splice acceptor variant, intron variant
rs587777716	A>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs745790694	C>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs747768373	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs750712213	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs753207473	C>G,T	Pathogenic, uncertain-significance	Stop gained, 5 prime UTR variant, coding sequence variant, missense variant
rs764717219	G>-	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, frameshift variant
rs770043095	->T	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs772320287	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs774294963	C>A,T	Pathogenic	Intron variant, synonymous variant, stop gained, coding sequence variant
rs774799167	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs776005417	G>A	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs786200937	TAAATTTG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs879253926	C>T	Pathogenic	Stop gained, coding sequence variant
rs1191997383	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1228223508	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1368013631	ATCAGGCA>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs1488999396	T>A	Pathogenic	Stop gained, coding sequence variant
rs1554300952	A>G	Likely-pathogenic	Splice acceptor variant
rs1554303800	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554309093	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1562648373	T>-	Pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs1562648414	ATATT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs1583695322	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583697607	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

309

Show/Hide all (309)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019027	hsa-miR-335-5p	Microarray	18185580
MIRT024087	hsa-miR-1-3p	Microarray	18668037
MIRT030214	hsa-miR-26b-5p	Microarray	19088304
MIRT715164	hsa-miR-545-3p	HITS-CLIP	19536157
MIRT715163	hsa-miR-1284	HITS-CLIP	19536157
MIRT715162	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT715161	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT715160	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT715159	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT715158	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT715157	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT608492	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT627022	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT627021	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT627020	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT627019	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT627018	hsa-miR-3666	HITS-CLIP	23824327
MIRT627017	hsa-miR-4295	HITS-CLIP	23824327
MIRT627016	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT627015	hsa-miR-3135b	HITS-CLIP	23824327
MIRT627014	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT627013	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT627012	hsa-miR-3652	HITS-CLIP	23824327
MIRT627011	hsa-miR-4430	HITS-CLIP	23824327
MIRT627010	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT627009	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT627008	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT627007	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT638030	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT638029	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT638028	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT638027	hsa-miR-325	HITS-CLIP	23824327
MIRT638026	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT638025	hsa-miR-1976	HITS-CLIP	23824327
MIRT638024	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT638023	hsa-miR-4279	HITS-CLIP	23824327
MIRT638022	hsa-miR-498	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT627022	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT627021	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT627020	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT627019	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT627018	hsa-miR-3666	HITS-CLIP	23824327
MIRT627017	hsa-miR-4295	HITS-CLIP	23824327
MIRT627016	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT627015	hsa-miR-3135b	HITS-CLIP	23824327
MIRT627014	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT627013	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT627012	hsa-miR-3652	HITS-CLIP	23824327
MIRT627011	hsa-miR-4430	HITS-CLIP	23824327
MIRT627010	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT627009	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT627008	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT627007	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	24906430
MIRT607147	hsa-miR-8485	HITS-CLIP	24906430
MIRT607146	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607145	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607144	hsa-miR-603	HITS-CLIP	24906430
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	24906430
MIRT608493	hsa-miR-6884-3p	HITS-CLIP	24906430
MIRT607142	hsa-miR-3941	HITS-CLIP	24906430
MIRT608492	hsa-miR-377-3p	HITS-CLIP	24906430
MIRT607147	hsa-miR-8485	HITS-CLIP	24906430
MIRT607146	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607145	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607144	hsa-miR-603	HITS-CLIP	24906430
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	24906430
MIRT607142	hsa-miR-3941	HITS-CLIP	24906430
MIRT607147	hsa-miR-8485	HITS-CLIP	24906430
MIRT607146	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607145	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607144	hsa-miR-603	HITS-CLIP	24906430
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	24906430
MIRT607142	hsa-miR-3941	HITS-CLIP	24906430
MIRT552227	hsa-miR-4476	PAR-CLIP	21572407
MIRT552226	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT519315	hsa-miR-4438	PAR-CLIP	23446348
MIRT519314	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519313	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT519312	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT519311	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT519310	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT519309	hsa-miR-4252	PAR-CLIP	23446348
MIRT519308	hsa-miR-5095	PAR-CLIP	23446348
MIRT519306	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519307	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT519305	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT607146	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT607146	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT607146	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT607146	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT607145	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT607145	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT607145	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT607145	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT608492	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT608492	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT607142	hsa-miR-3941	HITS-CLIP	27418678
MIRT607142	hsa-miR-3941	HITS-CLIP	27418678
MIRT607142	hsa-miR-3941	HITS-CLIP	27418678
MIRT607142	hsa-miR-3941	HITS-CLIP	27418678
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT607144	hsa-miR-603	HITS-CLIP	27418678
MIRT607144	hsa-miR-603	HITS-CLIP	27418678
MIRT607144	hsa-miR-603	HITS-CLIP	27418678
MIRT607144	hsa-miR-603	HITS-CLIP	27418678
MIRT608493	hsa-miR-6884-3p	HITS-CLIP	27418678
MIRT608493	hsa-miR-6884-3p	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	28735896
MIRT715164	hsa-miR-545-3p	HITS-CLIP	19536157
MIRT715163	hsa-miR-1284	HITS-CLIP	19536157
MIRT715162	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT715161	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT715160	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT715159	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT715158	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT715157	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT608492	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT627022	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT627021	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT627020	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT627019	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT627018	hsa-miR-3666	HITS-CLIP	23824327
MIRT627017	hsa-miR-4295	HITS-CLIP	23824327
MIRT627016	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT627015	hsa-miR-3135b	HITS-CLIP	23824327
MIRT627014	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT627013	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT627012	hsa-miR-3652	HITS-CLIP	23824327
MIRT627011	hsa-miR-4430	HITS-CLIP	23824327
MIRT627010	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT627009	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT627008	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT627007	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT638030	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT638029	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT638028	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT638027	hsa-miR-325	HITS-CLIP	23824327
MIRT638026	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT638025	hsa-miR-1976	HITS-CLIP	23824327
MIRT638024	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT638023	hsa-miR-4279	HITS-CLIP	23824327
MIRT638022	hsa-miR-498	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT627022	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT627021	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT627020	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT627019	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT627018	hsa-miR-3666	HITS-CLIP	23824327
MIRT627017	hsa-miR-4295	HITS-CLIP	23824327
MIRT627016	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT627015	hsa-miR-3135b	HITS-CLIP	23824327
MIRT627014	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT627013	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT627012	hsa-miR-3652	HITS-CLIP	23824327
MIRT627011	hsa-miR-4430	HITS-CLIP	23824327
MIRT627010	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT627009	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT627008	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT627007	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	PAR-CLIP	21572407
MIRT552226	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT519315	hsa-miR-4438	PAR-CLIP	23446348
MIRT519314	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519313	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT519312	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT519311	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT519310	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT519309	hsa-miR-4252	PAR-CLIP	23446348
MIRT519308	hsa-miR-5095	PAR-CLIP	23446348
MIRT519306	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519307	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT519305	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT996716	hsa-miR-4428	CLIP-seq
MIRT996717	hsa-miR-450b-5p	CLIP-seq
MIRT996718	hsa-miR-542-3p	CLIP-seq
MIRT996716	hsa-miR-4428	CLIP-seq
MIRT996716	hsa-miR-4428	CLIP-seq
MIRT2680994	hsa-miR-4699-5p	CLIP-seq
MIRT2680995	hsa-miR-4709-3p	CLIP-seq
MIRT2680996	hsa-miR-4724-3p	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	17556371, 19037259, 28514442, 32296183, 33961781, 35271311
GO:0005768	Component	Endosome	IEA
GO:0005811	Component	Lipid droplet	IDA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007033	Process	Vacuole organization	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0010008	Component	Endosome membrane	IDA	17556371
GO:0010008	Component	Endosome membrane	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0031642	Process	Negative regulation of myelination	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0031902	Component	Late endosome membrane	TAS
GO:0032288	Process	Myelin assembly	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0034593	Function	Phosphatidylinositol bisphosphate phosphatase activity	IEA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0042552	Process	Myelination	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043473	Process	Pigmentation	IEA
GO:0043812	Function	Phosphatidylinositol-4-phosphate phosphatase activity	IEA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	IBA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	IEA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0048666	Process	Neuron development	IEA
GO:0055037	Component	Recycling endosome	IEA

MIM	HGNC	e!Ensembl
609390	16873	ENSG00000112367

Q92562

Protein name

Polyphosphoinositide phosphatase (EC 3.1.3.-) (EC 3.1.3.36) (EC 3.1.3.86) (Phosphatidylinositol 3,5-bisphosphate 5-phosphatase) (SAC domain-containing protein 3) (Serine-protein phosphatase FIG4) (EC 3.1.3.16)

Protein function

Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:17556371, PubMed:33098764). Catalyzes the dephosphorylati

PDB

7K1W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02383	Syja_N	93 → 423	SacI homology domain	Family

Sequence

MPTAAAPIISSVQKLVLYETRARYFLVGSNNAETKYRVLKIDRTEPKDLVIIDDRHVYTQ
QEVRELLGRLDLGNRTKMGQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIG
GHAIYKVEDTNMIYIPNDSVRVTHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLT
VLRMPLEMLKSEMTQNRQESFDIFEDEGLITQGGSGVFGICSEPYMKYVWNGELLDIIKS
TVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSKFAGTRFLKRGANCEGDVANEVE
TEQILCDASVMSFTAGSYSSYVQVRGSVPLYWSQDISTMMPKPPITLDQADPFAHVAALH
FDQMFQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAK
YTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGCVIPTGRLQTG
ILRTNCVDCLDRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDT
LSLQYGGSQLVHRVKTYRKIAPWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHP
TEGKPHLWELPTDFYLHHKNTMRLLPTRRSYTYWWTPEVIKHLPLPYDEVICAVNLKKLI
VKKFHKYEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARDFMPKTVGIDPSPFTVRKPDE
TGKSVLGNKSNREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREEEGSVSQRSTPVK
MTDAGDSAKVTENVVQPMKELYGINLSDGLSEEDFSIYSRFVQLGQSQHKQDKNSQQPCS
RCSDGVIKLTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYRE
YIRNRYL

Sequence length

907

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		Synthesis of PIPs at the Golgi membrane Synthesis of PIPs at the early endosome membrane Synthesis of PIPs at the late endosome membrane

1321

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic	rs1778167658	RCV001257139
Amyotrophic lateral sclerosis	Likely pathogenic; Pathogenic	rs121908287, rs121908288, rs879253926	RCV001095515 RCV001095516 RCV003447128
Amyotrophic lateral sclerosis type 11	Likely pathogenic; Pathogenic	rs756308787, rs121908287, rs121908288, rs2486126464, rs764717219, rs753207473, rs776005417, rs1583695322, rs767193357	RCV001809193 RCV000416487 RCV000001796 RCV002290316 RCV000416492 RCV000987758 RCV000763552 RCV000987759 RCV005036437
Bilateral parasagittal parieto-occipital polymicrogyria	Likely pathogenic; Pathogenic	rs121908287, rs775015373, rs776005417, rs587777715, rs786200937, rs767193357, rs2486126620	RCV001330564 RCV005254121 RCV000763552 RCV000790989 RCV001255783 RCV005036437 RCV001255786
Cerebral hypomyelination	Likely pathogenic	rs1777239433	RCV001254716
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs587777715, rs1562648373, rs1368013631, rs764717219, rs770043095, rs745790694, rs776090013, rs1197741113, rs1191997383, rs143956557, rs1583695322, rs1777638564, rs767193357, rs896444437	RCV000789118 RCV000789113 RCV000789115 RCV000789114 RCV000789120 RCV000789755 RCV000789754 RCV000789121 RCV000789707 RCV000789756 RCV005359721 RCV001172950 RCV001172951 RCV001172959
Charcot-Marie-Tooth disease type 4	Likely pathogenic; Pathogenic	rs2128386656, rs760575768, rs1161553940, rs2128392205, rs2128396856, rs1175493477, rs1777242231, rs2128397285, rs754338522, rs2128394568, rs2128391439, rs2128391901, rs2128375200, rs2128387076, rs1458183004 View all (59 more)	RCV001379797 RCV001382831 RCV001389632 RCV001386182 RCV001386124 RCV002538573 RCV001892776 RCV001960579 RCV002022313 RCV001987823 RCV001945996 RCV001953681 RCV001972035 RCV001963081 RCV001973598 RCV001888003 RCV000476702 RCV001046714 RCV001851563 RCV003098064 RCV003063288 RCV003067657 RCV002648094 RCV002597987 RCV002658240 RCV002662335 RCV002676880 RCV002807100 RCV002870922 RCV002857168 RCV001235453 RCV003015697 RCV003035440 RCV003056411 RCV001857797 RCV001243544 RCV000533386 RCV003583859 RCV003583874 RCV003583988 RCV003744111 RCV000798693 RCV003744283 RCV003743172 RCV001861266 RCV003745257 RCV003857535 RCV003864605 RCV001382832 RCV001232367 RCV000801106 RCV001216587 RCV001043299 RCV000654162 RCV000654037 RCV000694453 RCV000687842 RCV003581720 RCV001387549 RCV001387550 RCV001873222 RCV000824501 RCV001248346 RCV002550724 RCV003744687 RCV001064731 RCV001051768 RCV001041528 RCV005093730 RCV001873605 RCV001222516 RCV001205918 RCV001215143 RCV001223602 RCV001232509
Charcot-Marie-Tooth disease type 4J	Pathogenic; Likely pathogenic	rs1562685713, rs587777715, rs121908287, rs1562648373, rs121908288, rs1368013631, rs1775850515, rs377357931, rs2486126897, rs747768373, rs764717219, rs772320287, rs753207473, rs776005417, rs770043095 View all (9 more)	RCV001730134 RCV000144073 RCV000001791 RCV000001792 RCV000001793 RCV000001794 RCV002290416 RCV000201166 RCV003988088 RCV001658078 RCV000001795 RCV003447133 RCV001729560 RCV000763552 RCV003447140 RCV000825523 RCV003989563 RCV003447154 RCV003447254 RCV003447177 RCV003447236 RCV003447255 RCV000790987 RCV003447106 RCV005036437
Failure to thrive	Likely pathogenic	rs1778167658	RCV001257139
FIG4-related disorder	Likely pathogenic; Pathogenic	rs121908287, rs121908288, rs377357931, rs747768373, rs772320287, rs1359777462, rs776005417, rs143956557	RCV003952336 RCV003944790 RCV003897432 RCV003955389 RCV004549799 RCV003901622 RCV003419795 RCV003411740
Micropenis	Likely pathogenic	rs1778167658	RCV001257139
Penile hypospadias	Likely pathogenic	rs1778167658	RCV001257139
See cases	Likely pathogenic; Pathogenic	rs1057519188, rs896444437	RCV003886332 RCV002287478
Severe global developmental delay	Likely pathogenic	rs1778167658	RCV001257139
Yunis-Varon syndrome	Likely pathogenic; Pathogenic	rs756308787, rs121908287, rs1562648373, rs377357931, rs778949599, rs776005417, rs745790694, rs750712213, rs587777715, rs786200937, rs767193357, rs764770160	RCV003147683 RCV001535566 RCV001195964 RCV005623072 RCV004787009 RCV000763552 RCV001197829 RCV003447156 RCV000790988 RCV000043691 RCV005036437 RCV003447320

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs2295837, rs9481005	RCV005890830 RCV005898455
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs2295837	RCV005890831
Amyotrophic Lateral Sclerosis, Dominant	Uncertain significance	rs886060986	RCV000407619
Cervical cancer	Uncertain significance	rs985655815	RCV005930432
Charcot-Marie-Tooth disease, type I	Uncertain significance	rs1583738240	RCV000857169
Cholangiocarcinoma	Benign; Likely benign	rs2295837	RCV005890835
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	rs200267243	RCV005899028
Colon adenocarcinoma	Benign; Likely benign	rs2295837	RCV005890829
Colorectal cancer	Benign; Likely benign	rs2295837	RCV005890833
Familial cancer of breast	Conflicting classifications of pathogenicity	rs200267243	RCV005899027
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs140055056	RCV005899029
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs2295837	RCV005890832
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity	rs115467680, rs142482745	RCV005917510 RCV005893937
Neuronopathy, distal hereditary motor, autosomal dominant	Uncertain significance	rs1189038219	RCV000857167
Ovarian cancer	Likely benign	rs201459736	RCV005905719
Sarcoma	Conflicting classifications of pathogenicity	rs142482745	RCV005893938
Thymoma	Likely benign; Benign	rs115467680, rs2295837	RCV005917511 RCV005890834
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs771093157	RCV005909033
Uterine corpus endometrial carcinoma	Uncertain significance; Benign; Likely benign	rs376772954, rs2295837, rs200730266, rs200535694	RCV005918720 RCV005890836 RCV005890964 RCV005869212

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acid Phosphatase Deficiency	Inhibit	31313076
Alzheimer Disease	Associate	26216398
Amyotrophic Lateral Sclerosis	Associate	19118816, 23755159, 28051077, 37950760
Androgen Insensitivity Syndrome	Associate	33405357
Arthritis	Associate	33926255
Carcinoma Renal Cell	Associate	27856290
Central Nervous System Diseases	Associate	30740813
Charcot Marie Tooth Disease	Associate	21705420, 24878229, 37950760
Charcot Marie Tooth disease Type 1C	Associate	32022442
Charcot Marie Tooth disease Type 2B	Associate	37133535
Charcot Marie Tooth disease Type 4A	Associate	33059769
Charcot Marie Tooth Disease Type 4j	Associate	19118816, 21705420, 24878229, 27292112, 28051077, 30740813, 31313076, 32022442, 33059769, 33405357
COVID 19	Associate	36662838
Demyelinating Autoimmune Diseases CNS	Associate	30740813
Demyelinating Diseases	Associate	30740813, 33059769
Developmental Disabilities	Associate	33168985, 35803560
Epileptic Encephalopathy Early Infantile 3	Associate	35803560
Fetal Alcohol Spectrum Disorders	Associate	30740813
Frontotemporal Dementia	Associate	34130600
Gaucher Disease	Associate	34130600
Glycogen Storage Disease	Associate	34130600
Hallux Valgus	Associate	33926255
Huntington Disease	Associate	34130600
Leukodystrophy Metachromatic	Associate	35803560
Leukoencephalopathies	Associate	30740813, 35803560
Motor Neuron Disease	Associate	19118816, 37133535
Nervous System Diseases	Associate	21705420, 38334070
Neuroblastoma	Associate	27856290
Paralysis	Associate	37950760
Parkinson Disease	Associate	37950760
Parkinson Disease Secondary	Associate	37950760
Peripheral Nervous System Diseases	Associate	19118816, 28051077, 30740813
Polymicrogyria	Associate	27292112
Seizures	Associate	27292112
Spastic Paraplegia Hereditary	Associate	37133535
Syndrome	Associate	35803560
Yunis Varon syndrome	Associate	27292112, 30740813

FIG4 (FIG4 phosphoinositide 5-phosphatase)