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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9896
Gene name Gene Name - the full gene name approved by the HGNC.	FIG4 phosphoinositide 5-phosphatase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FIG4
Synonyms (NCBI Gene) Gene synonyms aliases	ALS11, BOP, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(37)

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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis type 11, amyotrophic lateral sclerosis	rs1583695322, rs764717219, rs121908288, rs121908287, rs753207473, rs879253926	N/A
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	bilateral parasagittal parieto-occipital polymicrogyria	rs786200937, rs587777715, rs121908287	N/A
Charcot-Marie-Tooth Disease	charcot-marie-tooth disease type 4j, charcot-marie-tooth disease type 4, Charcot-Marie-Tooth Disease	rs774294963, rs1197741113, rs747768373, rs776005417, rs1562648373, rs1488999396, rs1554300952, rs786200937, rs764717219, rs1554303800, rs1191997383, rs770043095, rs1583695322, rs750712213, rs1562648414 View all (17 more)	N/A
Yunis Varon Syndrome	yunis-varon syndrome	rs786200937, rs1562648373, rs750712213, rs745790694, rs121908287, rs587777715	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
cerebral hypomyelination	Cerebral hypomyelination	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Distal Hereditary Motor Neuronopathy	Neuronopathy, distal hereditary motor, autosomal dominant	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)