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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8496
Gene name	PPFIB scaffold protein 1
Gene symbol	PPFIBP1
Synonyms (NCBI Gene)	L2NEDSMBASGT2hSGT2hSgt2p
Chromosome	12
Chromosome location	12p11.23-p11.22
Summary	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017273	hsa-miR-335-5p	Microarray	18185580
MIRT020577	hsa-miR-155-5p	Proteomics	18668040
MIRT707461	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT707460	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707459	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707458	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707457	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707456	hsa-miR-4421	HITS-CLIP	21572407
MIRT707455	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707454	hsa-miR-548aj-5p	HITS-CLIP	21572407
MIRT707453	hsa-miR-548f-5p	HITS-CLIP	21572407
MIRT707452	hsa-miR-548g-5p	HITS-CLIP	21572407
MIRT707451	hsa-miR-548x-5p	HITS-CLIP	21572407
MIRT707450	hsa-miR-1468-3p	HITS-CLIP	21572407
MIRT707449	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707448	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707447	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707446	hsa-miR-548aw	HITS-CLIP	21572407
MIRT707445	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT707461	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT707460	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707459	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707458	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707457	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707456	hsa-miR-4421	HITS-CLIP	21572407
MIRT707455	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707454	hsa-miR-548aj-5p	HITS-CLIP	21572407
MIRT707453	hsa-miR-548f-5p	HITS-CLIP	21572407
MIRT707452	hsa-miR-548g-5p	HITS-CLIP	21572407
MIRT707451	hsa-miR-548x-5p	HITS-CLIP	21572407
MIRT707450	hsa-miR-1468-3p	HITS-CLIP	21572407
MIRT707449	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707448	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707447	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707446	hsa-miR-548aw	HITS-CLIP	21572407
MIRT707445	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT1252509	hsa-miR-10a	CLIP-seq
MIRT1252510	hsa-miR-10b	CLIP-seq
MIRT1252511	hsa-miR-139-5p	CLIP-seq
MIRT1252512	hsa-miR-141	CLIP-seq
MIRT1252513	hsa-miR-194	CLIP-seq
MIRT1252514	hsa-miR-200a	CLIP-seq
MIRT1252515	hsa-miR-2114	CLIP-seq
MIRT1252516	hsa-miR-24	CLIP-seq
MIRT1252517	hsa-miR-3121-3p	CLIP-seq
MIRT1252518	hsa-miR-3171	CLIP-seq
MIRT1252519	hsa-miR-3622b-5p	CLIP-seq
MIRT1252520	hsa-miR-4253	CLIP-seq
MIRT1252521	hsa-miR-4284	CLIP-seq
MIRT1252522	hsa-miR-4327	CLIP-seq
MIRT1252523	hsa-miR-4427	CLIP-seq
MIRT1252524	hsa-miR-4695-5p	CLIP-seq
MIRT1252525	hsa-miR-4747-5p	CLIP-seq
MIRT1252526	hsa-miR-495	CLIP-seq
MIRT1252527	hsa-miR-548v	CLIP-seq
MIRT1252528	hsa-miR-593	CLIP-seq
MIRT1252529	hsa-miR-1207-3p	CLIP-seq
MIRT1252530	hsa-miR-1224-5p	CLIP-seq
MIRT1252531	hsa-miR-1226	CLIP-seq
MIRT1252532	hsa-miR-1227	CLIP-seq
MIRT1252533	hsa-miR-1285	CLIP-seq
MIRT1252534	hsa-miR-129-5p	CLIP-seq
MIRT1252535	hsa-miR-1324	CLIP-seq
MIRT1252536	hsa-miR-1343	CLIP-seq
MIRT1252537	hsa-miR-140-3p	CLIP-seq
MIRT1252538	hsa-miR-1976	CLIP-seq
MIRT1252539	hsa-miR-199a-5p	CLIP-seq
MIRT1252540	hsa-miR-199b-5p	CLIP-seq
MIRT1252541	hsa-miR-2052	CLIP-seq
MIRT1252542	hsa-miR-2113	CLIP-seq
MIRT1252543	hsa-miR-296-3p	CLIP-seq
MIRT1252544	hsa-miR-3160-3p	CLIP-seq
MIRT1252545	hsa-miR-3187-5p	CLIP-seq
MIRT1252546	hsa-miR-323-3p	CLIP-seq
MIRT1252547	hsa-miR-338-3p	CLIP-seq
MIRT1252548	hsa-miR-3614-5p	CLIP-seq
MIRT1252549	hsa-miR-3667-3p	CLIP-seq
MIRT1252550	hsa-miR-3672	CLIP-seq
MIRT1252551	hsa-miR-3674	CLIP-seq
MIRT1252552	hsa-miR-3688-5p	CLIP-seq
MIRT1252553	hsa-miR-370	CLIP-seq
MIRT1252554	hsa-miR-3915	CLIP-seq
MIRT1252555	hsa-miR-4252	CLIP-seq
MIRT1252556	hsa-miR-4272	CLIP-seq
MIRT1252522	hsa-miR-4327	CLIP-seq
MIRT1252523	hsa-miR-4427	CLIP-seq
MIRT1252557	hsa-miR-4433	CLIP-seq
MIRT1252558	hsa-miR-4445	CLIP-seq
MIRT1252559	hsa-miR-4461	CLIP-seq
MIRT1252560	hsa-miR-4474-3p	CLIP-seq
MIRT1252561	hsa-miR-4487	CLIP-seq
MIRT1252562	hsa-miR-4530	CLIP-seq
MIRT1252563	hsa-miR-4689	CLIP-seq
MIRT1252524	hsa-miR-4695-5p	CLIP-seq
MIRT1252564	hsa-miR-4711-3p	CLIP-seq
MIRT1252565	hsa-miR-4733-3p	CLIP-seq
MIRT1252566	hsa-miR-4751	CLIP-seq
MIRT1252567	hsa-miR-4762-3p	CLIP-seq
MIRT1252568	hsa-miR-4774-5p	CLIP-seq
MIRT1252569	hsa-miR-4786-5p	CLIP-seq
MIRT1252570	hsa-miR-4793-3p	CLIP-seq
MIRT1252571	hsa-miR-4794	CLIP-seq
MIRT1252572	hsa-miR-508-5p	CLIP-seq
MIRT1252573	hsa-miR-511	CLIP-seq
MIRT1252574	hsa-miR-543	CLIP-seq
MIRT1252575	hsa-miR-555	CLIP-seq
MIRT1252576	hsa-miR-558	CLIP-seq
MIRT1252577	hsa-miR-582-5p	CLIP-seq
MIRT1252578	hsa-miR-587	CLIP-seq
MIRT1252579	hsa-miR-612	CLIP-seq
MIRT1252580	hsa-miR-661	CLIP-seq
MIRT1252581	hsa-miR-766	CLIP-seq
MIRT1252582	hsa-miR-769-5p	CLIP-seq
MIRT1252583	hsa-miR-891b	CLIP-seq
MIRT1252584	hsa-miR-935	CLIP-seq
MIRT1252530	hsa-miR-1224-5p	CLIP-seq
MIRT1252534	hsa-miR-129-5p	CLIP-seq
MIRT1252585	hsa-miR-203	CLIP-seq
MIRT1252586	hsa-miR-23a	CLIP-seq
MIRT1252587	hsa-miR-23b	CLIP-seq
MIRT1252588	hsa-miR-23c	CLIP-seq
MIRT1252589	hsa-miR-3163	CLIP-seq
MIRT1252590	hsa-miR-3545-3p	CLIP-seq
MIRT1252548	hsa-miR-3614-5p	CLIP-seq
MIRT1252554	hsa-miR-3915	CLIP-seq
MIRT1252557	hsa-miR-4433	CLIP-seq
MIRT1252591	hsa-miR-4668-3p	CLIP-seq
MIRT1252563	hsa-miR-4689	CLIP-seq
MIRT1252566	hsa-miR-4751	CLIP-seq
MIRT1252592	hsa-miR-554	CLIP-seq
MIRT2074402	hsa-miR-1228	CLIP-seq
MIRT1252533	hsa-miR-1285	CLIP-seq
MIRT2074403	hsa-miR-3135	CLIP-seq
MIRT1252545	hsa-miR-3187-5p	CLIP-seq
MIRT1252547	hsa-miR-338-3p	CLIP-seq
MIRT1252555	hsa-miR-4252	CLIP-seq
MIRT1252562	hsa-miR-4530	CLIP-seq
MIRT2074404	hsa-miR-4712-5p	CLIP-seq
MIRT1252570	hsa-miR-4793-3p	CLIP-seq
MIRT2074405	hsa-miR-488	CLIP-seq
MIRT1252572	hsa-miR-508-5p	CLIP-seq
MIRT2074406	hsa-miR-610	CLIP-seq
MIRT1252579	hsa-miR-612	CLIP-seq
MIRT1252580	hsa-miR-661	CLIP-seq
MIRT1252581	hsa-miR-766	CLIP-seq
MIRT2074407	hsa-miR-770-5p	CLIP-seq
MIRT1252531	hsa-miR-1226	CLIP-seq
MIRT2074408	hsa-miR-197	CLIP-seq
MIRT1252589	hsa-miR-3163	CLIP-seq
MIRT1252546	hsa-miR-323-3p	CLIP-seq
MIRT2074409	hsa-miR-4256	CLIP-seq
MIRT2074410	hsa-miR-4719	CLIP-seq
MIRT1252568	hsa-miR-4774-5p	CLIP-seq
MIRT2074411	hsa-miR-548n	CLIP-seq
MIRT2074412	hsa-miR-548t	CLIP-seq
MIRT1252568	hsa-miR-4774-5p	CLIP-seq
MIRT2074410	hsa-miR-4719	CLIP-seq
MIRT1252509	hsa-miR-10a	CLIP-seq
MIRT1252510	hsa-miR-10b	CLIP-seq
MIRT1252533	hsa-miR-1285	CLIP-seq
MIRT1252545	hsa-miR-3187-5p	CLIP-seq
MIRT1252519	hsa-miR-3622b-5p	CLIP-seq
MIRT1252555	hsa-miR-4252	CLIP-seq
MIRT2456999	hsa-miR-4645-5p	CLIP-seq
MIRT2457000	hsa-miR-4662a-5p	CLIP-seq
MIRT2457001	hsa-miR-4673	CLIP-seq
MIRT2457002	hsa-miR-4676-5p	CLIP-seq
MIRT2074404	hsa-miR-4712-5p	CLIP-seq
MIRT2457003	hsa-miR-4755-3p	CLIP-seq
MIRT1252570	hsa-miR-4793-3p	CLIP-seq
MIRT1252572	hsa-miR-508-5p	CLIP-seq
MIRT2457004	hsa-miR-575	CLIP-seq
MIRT1252528	hsa-miR-593	CLIP-seq
MIRT1252579	hsa-miR-612	CLIP-seq
MIRT1252580	hsa-miR-661	CLIP-seq
MIRT1252581	hsa-miR-766	CLIP-seq
MIRT2074407	hsa-miR-770-5p	CLIP-seq
MIRT1252509	hsa-miR-10a	CLIP-seq
MIRT1252510	hsa-miR-10b	CLIP-seq
MIRT2598072	hsa-miR-1183	CLIP-seq
MIRT2598073	hsa-miR-1207-5p	CLIP-seq
MIRT1252530	hsa-miR-1224-5p	CLIP-seq
MIRT1252531	hsa-miR-1226	CLIP-seq
MIRT1252532	hsa-miR-1227	CLIP-seq
MIRT2074402	hsa-miR-1228	CLIP-seq
MIRT2598074	hsa-miR-1283	CLIP-seq
MIRT1252533	hsa-miR-1285	CLIP-seq
MIRT2598075	hsa-miR-200b	CLIP-seq
MIRT2598076	hsa-miR-200c	CLIP-seq
MIRT1252541	hsa-miR-2052	CLIP-seq
MIRT2598077	hsa-miR-2110	CLIP-seq
MIRT1252515	hsa-miR-2114	CLIP-seq
MIRT1252586	hsa-miR-23a	CLIP-seq
MIRT1252587	hsa-miR-23b	CLIP-seq
MIRT1252588	hsa-miR-23c	CLIP-seq
MIRT2598078	hsa-miR-3140-3p	CLIP-seq
MIRT2598079	hsa-miR-3150a-3p	CLIP-seq
MIRT2598080	hsa-miR-3157-5p	CLIP-seq
MIRT1252589	hsa-miR-3163	CLIP-seq
MIRT1252545	hsa-miR-3187-5p	CLIP-seq
MIRT2598081	hsa-miR-323-5p	CLIP-seq
MIRT1252547	hsa-miR-338-3p	CLIP-seq
MIRT2598082	hsa-miR-3607-3p	CLIP-seq
MIRT1252548	hsa-miR-3614-5p	CLIP-seq
MIRT1252519	hsa-miR-3622b-5p	CLIP-seq
MIRT2598083	hsa-miR-3652	CLIP-seq
MIRT1252550	hsa-miR-3672	CLIP-seq
MIRT2598084	hsa-miR-371-5p	CLIP-seq
MIRT1252554	hsa-miR-3915	CLIP-seq
MIRT1252555	hsa-miR-4252	CLIP-seq
MIRT2598085	hsa-miR-4260	CLIP-seq
MIRT2598086	hsa-miR-429	CLIP-seq
MIRT2598087	hsa-miR-4311	CLIP-seq
MIRT2598088	hsa-miR-4430	CLIP-seq
MIRT1252557	hsa-miR-4433	CLIP-seq
MIRT1252558	hsa-miR-4445	CLIP-seq
MIRT1252562	hsa-miR-4530	CLIP-seq
MIRT2598089	hsa-miR-4638-3p	CLIP-seq
MIRT2456999	hsa-miR-4645-5p	CLIP-seq
MIRT2457000	hsa-miR-4662a-5p	CLIP-seq
MIRT1252591	hsa-miR-4668-3p	CLIP-seq
MIRT2457001	hsa-miR-4673	CLIP-seq
MIRT2457002	hsa-miR-4676-5p	CLIP-seq
MIRT1252563	hsa-miR-4689	CLIP-seq
MIRT2598090	hsa-miR-4691-3p	CLIP-seq
MIRT1252524	hsa-miR-4695-5p	CLIP-seq
MIRT2598091	hsa-miR-4710	CLIP-seq
MIRT2074404	hsa-miR-4712-5p	CLIP-seq
MIRT2598092	hsa-miR-4725-5p	CLIP-seq
MIRT1252565	hsa-miR-4733-3p	CLIP-seq
MIRT2598093	hsa-miR-4736	CLIP-seq
MIRT1252525	hsa-miR-4747-5p	CLIP-seq
MIRT1252566	hsa-miR-4751	CLIP-seq
MIRT2457003	hsa-miR-4755-3p	CLIP-seq
MIRT1252567	hsa-miR-4762-3p	CLIP-seq
MIRT2598094	hsa-miR-4763-3p	CLIP-seq
MIRT1252569	hsa-miR-4786-5p	CLIP-seq
MIRT2598095	hsa-miR-4792	CLIP-seq
MIRT1252570	hsa-miR-4793-3p	CLIP-seq
MIRT2074405	hsa-miR-488	CLIP-seq
MIRT1252526	hsa-miR-495	CLIP-seq
MIRT2598096	hsa-miR-504	CLIP-seq
MIRT1252572	hsa-miR-508-5p	CLIP-seq
MIRT2598097	hsa-miR-516a-3p	CLIP-seq
MIRT2598098	hsa-miR-544	CLIP-seq
MIRT2598099	hsa-miR-548ae	CLIP-seq
MIRT2598100	hsa-miR-548aj	CLIP-seq
MIRT2598101	hsa-miR-548am	CLIP-seq
MIRT2598102	hsa-miR-548m	CLIP-seq
MIRT2074411	hsa-miR-548n	CLIP-seq
MIRT2598103	hsa-miR-548x	CLIP-seq
MIRT1252592	hsa-miR-554	CLIP-seq
MIRT2598104	hsa-miR-570	CLIP-seq
MIRT2457004	hsa-miR-575	CLIP-seq
MIRT1252528	hsa-miR-593	CLIP-seq
MIRT1252579	hsa-miR-612	CLIP-seq
MIRT2598105	hsa-miR-642b	CLIP-seq
MIRT1252580	hsa-miR-661	CLIP-seq
MIRT1252581	hsa-miR-766	CLIP-seq
MIRT1252582	hsa-miR-769-5p	CLIP-seq
MIRT2074407	hsa-miR-770-5p	CLIP-seq
MIRT2598106	hsa-miR-876-3p	CLIP-seq
MIRT1252509	hsa-miR-10a	CLIP-seq
MIRT1252510	hsa-miR-10b	CLIP-seq
MIRT2598072	hsa-miR-1183	CLIP-seq
MIRT2598073	hsa-miR-1207-5p	CLIP-seq
MIRT1252530	hsa-miR-1224-5p	CLIP-seq
MIRT1252531	hsa-miR-1226	CLIP-seq
MIRT1252532	hsa-miR-1227	CLIP-seq
MIRT2074402	hsa-miR-1228	CLIP-seq
MIRT2688424	hsa-miR-1254	CLIP-seq
MIRT2598074	hsa-miR-1283	CLIP-seq
MIRT1252533	hsa-miR-1285	CLIP-seq
MIRT2598075	hsa-miR-200b	CLIP-seq
MIRT2598076	hsa-miR-200c	CLIP-seq
MIRT1252541	hsa-miR-2052	CLIP-seq
MIRT2598077	hsa-miR-2110	CLIP-seq
MIRT1252515	hsa-miR-2114	CLIP-seq
MIRT2688425	hsa-miR-3116	CLIP-seq
MIRT2598078	hsa-miR-3140-3p	CLIP-seq
MIRT2598079	hsa-miR-3150a-3p	CLIP-seq
MIRT2688426	hsa-miR-3175	CLIP-seq
MIRT1252545	hsa-miR-3187-5p	CLIP-seq
MIRT2598081	hsa-miR-323-5p	CLIP-seq
MIRT1252547	hsa-miR-338-3p	CLIP-seq
MIRT2598082	hsa-miR-3607-3p	CLIP-seq
MIRT1252548	hsa-miR-3614-5p	CLIP-seq
MIRT1252519	hsa-miR-3622b-5p	CLIP-seq
MIRT2598083	hsa-miR-3652	CLIP-seq
MIRT1252550	hsa-miR-3672	CLIP-seq
MIRT2598084	hsa-miR-371-5p	CLIP-seq
MIRT1252554	hsa-miR-3915	CLIP-seq
MIRT1252555	hsa-miR-4252	CLIP-seq
MIRT2688427	hsa-miR-4254	CLIP-seq
MIRT2598085	hsa-miR-4260	CLIP-seq
MIRT2598086	hsa-miR-429	CLIP-seq
MIRT2598087	hsa-miR-4311	CLIP-seq
MIRT2598088	hsa-miR-4430	CLIP-seq
MIRT1252557	hsa-miR-4433	CLIP-seq
MIRT1252558	hsa-miR-4445	CLIP-seq
MIRT1252562	hsa-miR-4530	CLIP-seq
MIRT2598089	hsa-miR-4638-3p	CLIP-seq
MIRT2456999	hsa-miR-4645-5p	CLIP-seq
MIRT2457000	hsa-miR-4662a-5p	CLIP-seq
MIRT2457001	hsa-miR-4673	CLIP-seq
MIRT2457002	hsa-miR-4676-5p	CLIP-seq
MIRT1252563	hsa-miR-4689	CLIP-seq
MIRT1252524	hsa-miR-4695-5p	CLIP-seq
MIRT2598091	hsa-miR-4710	CLIP-seq
MIRT2074404	hsa-miR-4712-5p	CLIP-seq
MIRT2598092	hsa-miR-4725-5p	CLIP-seq
MIRT1252565	hsa-miR-4733-3p	CLIP-seq
MIRT2598093	hsa-miR-4736	CLIP-seq
MIRT1252525	hsa-miR-4747-5p	CLIP-seq
MIRT1252566	hsa-miR-4751	CLIP-seq
MIRT2457003	hsa-miR-4755-3p	CLIP-seq
MIRT1252567	hsa-miR-4762-3p	CLIP-seq
MIRT2598094	hsa-miR-4763-3p	CLIP-seq
MIRT1252569	hsa-miR-4786-5p	CLIP-seq
MIRT2598095	hsa-miR-4792	CLIP-seq
MIRT1252570	hsa-miR-4793-3p	CLIP-seq
MIRT2074405	hsa-miR-488	CLIP-seq
MIRT1252526	hsa-miR-495	CLIP-seq
MIRT2598096	hsa-miR-504	CLIP-seq
MIRT1252572	hsa-miR-508-5p	CLIP-seq
MIRT2598097	hsa-miR-516a-3p	CLIP-seq
MIRT2598098	hsa-miR-544	CLIP-seq
MIRT2598099	hsa-miR-548ae	CLIP-seq
MIRT2598100	hsa-miR-548aj	CLIP-seq
MIRT2598101	hsa-miR-548am	CLIP-seq
MIRT2598102	hsa-miR-548m	CLIP-seq
MIRT2598103	hsa-miR-548x	CLIP-seq
MIRT2598104	hsa-miR-570	CLIP-seq
MIRT2457004	hsa-miR-575	CLIP-seq
MIRT1252528	hsa-miR-593	CLIP-seq
MIRT1252579	hsa-miR-612	CLIP-seq
MIRT2598105	hsa-miR-642b	CLIP-seq
MIRT1252580	hsa-miR-661	CLIP-seq
MIRT1252581	hsa-miR-766	CLIP-seq
MIRT1252582	hsa-miR-769-5p	CLIP-seq
MIRT2074407	hsa-miR-770-5p	CLIP-seq
MIRT2598106	hsa-miR-876-3p	CLIP-seq
MIRT2688428	hsa-miR-939	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15161933, 15778465, 24120883, 32296183, 33060197, 35271311, 36217029, 36931259
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	NAS	9624153
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005938	Component	Cell cortex	IDA	24120883
GO:0005938	Component	Cell cortex	IEA
GO:0007155	Process	Cell adhesion	TAS	9624153
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0043622	Process	Cortical microtubule organization	IMP	24120883
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0048786	Component	Presynaptic active zone	IBA

MIM	HGNC	e!Ensembl
603141	9249	ENSG00000110841

Q86W92

Protein name

Liprin-beta-1 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1) (PTPRF-interacting protein-binding protein 1) (hSGT2)

Protein function

May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00536	SAM_1	645 → 709	SAM domain (Sterile alpha motif)	Domain
PF00536	SAM_1	718 → 780	SAM domain (Sterile alpha motif)	Domain
PF07647	SAM_2	804 → 874	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Absent in liver. {ECO:0000269|PubMed:9624153}.

Sequence

MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLE
MMETDEKEGLRCQIPDSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQV
SVLTDQVEAQGEKIRDLEFCLEEHREKVNATEEMLQQELLSRTSLETQKLDLMAEISNLK
LKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYEKKLKSTKSLMAKLSS
MKIKVGQMQYEKQRMEQKWESLKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVD
RDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSS
SISSLLDAQGFSDLEKSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSME
TSEKSKLTPKPETSFEENDGNIILGATVDTQLCDKLLTSSLQKSSSLGNLKKETSDGEKE
TIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSFGRGFFKIKSNKRTAS
APNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQ
STTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQG
LGSYLNSGKHWIASGQTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLD
FNWVTRWLDDIGLPQYKTQFDEGRVDGRMLHYMTVDDLLSLKVVSVLHHLSIKRAIQVLR
INNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYAPNLRGSGVHGGLMVL
EPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKV
KPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLE
QMEDSEGTVRQIGAFSEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV

Sequence length

1011

Interactions

View interactions

	Reactome
			Receptor-type tyrosine-protein phosphatases

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

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral calcification	Pathogenic	rs2059916812, rs2140520299, rs2140228979, rs146185523, rs2140279716, rs143847599, rs2140278432, rs2140201554, rs1363198922	RCV002226618 RCV002226619 RCV002226620 RCV002226621 RCV002226622 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Pathogenic	rs2059916812, rs2140520299, rs2140228979, rs146185523, rs2140279716, rs143847599, rs2140278432, rs2140201554, rs1363198922	RCV002226618 RCV002226619 RCV002226620 RCV002226621 RCV002226622 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities	Pathogenic; Likely pathogenic	rs2059916812, rs2140520299, rs2140228979, rs146185523, rs2140279716, rs143847599, rs2544259795, rs2543706043	RCV003322630 RCV002280789 RCV002280834 RCV002280790 RCV002280791 RCV002280792 RCV003988395 RCV004595055 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Pathogenic	rs2059916812, rs2140520299, rs2140228979, rs146185523, rs2140279716, rs143847599, rs2140278432, rs2140201554, rs1363198922	RCV002226618 RCV002226619 RCV002226620 RCV002226621 RCV002226622 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe intellectual disability	Pathogenic	rs2059916812, rs2140520299, rs2140228979, rs146185523, rs2140279716, rs143847599, rs2140278432, rs2140201554, rs1363198922	RCV002226618 RCV002226619 RCV002226620 RCV002226621 RCV002226622 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPFIBP1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinogenesis	Carcinogenesis	Pubtator	25737553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	16779802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	16779802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	28118661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	GWASDB_DG	21849791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30214071	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plasma Cell Granuloma, Pulmonary	Granulomas	CTD_human_DG	21430068		★★★★★ ★☆☆☆☆ Found in Text Mining only

PPFIBP1 (PPFIB scaffold protein 1)