GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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EZR (ezrin)

Gene

7430

Ezrin

EZR

CVIL, CVL, HEL-S-105, VIL2

6q25.3

The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytosk

Show/Hide all(314)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004349	hsa-miR-183-5p	Luciferase reporter assay	18840437
MIRT004349	hsa-miR-183-5p	Review	19935707
MIRT004349	hsa-miR-183-5p	Luciferase reporter assay	18840437
MIRT005825	hsa-miR-204-5p	Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21282569
MIRT005825	hsa-miR-204-5p	Immunoblot, Luciferase reporter assay	21416062
MIRT005825	hsa-miR-204-5p	Immunoblot, Luciferase reporter assay	21416062
MIRT005825	hsa-miR-204-5p	Immunoblot, Luciferase reporter assay	21416062
MIRT005825	hsa-miR-204-5p	Immunoblot, Luciferase reporter assay	21416062
MIRT005825	hsa-miR-204-5p	Immunoblot, Luciferase reporter assay	21416062
MIRT005825	hsa-miR-204-5p	Immunoblot, Luciferase reporter assay	21416062
MIRT031338	hsa-miR-18a-5p	Sequencing	20371350
MIRT050361	hsa-miR-25-3p	CLASH	23622248
MIRT049846	hsa-miR-92a-3p	CLASH	23622248
MIRT046802	hsa-miR-222-3p	CLASH	23622248
MIRT045629	hsa-miR-149-5p	CLASH	23622248
MIRT045001	hsa-miR-186-5p	CLASH	23622248
MIRT045001	hsa-miR-186-5p	CLASH	23622248
MIRT043797	hsa-miR-328-3p	CLASH	23622248
MIRT040344	hsa-miR-615-3p	CLASH	23622248
MIRT035925	hsa-miR-1180-3p	CLASH	23622248
MIRT004349	hsa-miR-183-5p	Flow, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25337200
MIRT004349	hsa-miR-183-5p	Flow, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25337200
MIRT438290	hsa-miR-184	Luciferase reporter assay, qRT-PCR, Western blot	25251993
MIRT004349	hsa-miR-183-5p	qRT-PCR	24352761
MIRT438290	hsa-miR-184	Luciferase reporter assay, qRT-PCR, Western blot	25251993
MIRT004349	hsa-miR-183-5p	qRT-PCR	24352761
MIRT537541	hsa-miR-3677-5p	PAR-CLIP	22012620
MIRT537540	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT537539	hsa-miR-6730-3p	PAR-CLIP	22012620
MIRT537538	hsa-miR-3660	PAR-CLIP	22012620
MIRT537537	hsa-miR-4526	PAR-CLIP	22012620
MIRT537536	hsa-miR-6719-3p	PAR-CLIP	22012620
MIRT537535	hsa-miR-4294	PAR-CLIP	22012620
MIRT537534	hsa-miR-3622b-5p	PAR-CLIP	22012620
MIRT537533	hsa-miR-1257	PAR-CLIP	22012620
MIRT537532	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT440697	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT440697	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT440697	hsa-miR-205-5p	Luciferase reporter assay, Microarray	25597268
MIRT440697	hsa-miR-205-5p	Luciferase reporter assay, Microarray	25597268
MIRT734711	hsa-miR-28-3p	Western blotting, Microarray, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR, Flow cytometry	32664538
MIRT734712	hsa-miR-193a-5p	Western blotting, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR, Flow cytometry	32664538
MIRT734713	hsa-miR-218-5p	Western blotting, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR, Flow cytometry	32664538
MIRT734714	hsa-miR-452-5p	Western blotting, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR, Flow cytometry	32664538
MIRT537541	hsa-miR-3677-5p	PAR-CLIP	22012620
MIRT537540	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT537539	hsa-miR-6730-3p	PAR-CLIP	22012620
MIRT537538	hsa-miR-3660	PAR-CLIP	22012620
MIRT537537	hsa-miR-4526	PAR-CLIP	22012620
MIRT537536	hsa-miR-6719-3p	PAR-CLIP	22012620
MIRT537535	hsa-miR-4294	PAR-CLIP	22012620
MIRT537534	hsa-miR-3622b-5p	PAR-CLIP	22012620
MIRT537533	hsa-miR-1257	PAR-CLIP	22012620
MIRT537532	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT973978	hsa-miR-1303	CLIP-seq
MIRT973979	hsa-miR-18a	CLIP-seq
MIRT973980	hsa-miR-18b	CLIP-seq
MIRT973981	hsa-miR-1908	CLIP-seq
MIRT973982	hsa-miR-1972	CLIP-seq
MIRT973983	hsa-miR-299-5p	CLIP-seq
MIRT973984	hsa-miR-3121-3p	CLIP-seq
MIRT973985	hsa-miR-3129-3p	CLIP-seq
MIRT973986	hsa-miR-338-3p	CLIP-seq
MIRT973987	hsa-miR-34c-3p	CLIP-seq
MIRT973988	hsa-miR-3614-5p	CLIP-seq
MIRT973989	hsa-miR-377	CLIP-seq
MIRT973990	hsa-miR-409-3p	CLIP-seq
MIRT973991	hsa-miR-410	CLIP-seq
MIRT973992	hsa-miR-4481	CLIP-seq
MIRT973993	hsa-miR-4485	CLIP-seq
MIRT973994	hsa-miR-4492	CLIP-seq
MIRT973995	hsa-miR-4498	CLIP-seq
MIRT973996	hsa-miR-4508	CLIP-seq
MIRT973997	hsa-miR-4522	CLIP-seq
MIRT973998	hsa-miR-4670-3p	CLIP-seq
MIRT973999	hsa-miR-4731-3p	CLIP-seq
MIRT974000	hsa-miR-4735-3p	CLIP-seq
MIRT974001	hsa-miR-4742-3p	CLIP-seq
MIRT974002	hsa-miR-4745-5p	CLIP-seq
MIRT974003	hsa-miR-4758-5p	CLIP-seq
MIRT974004	hsa-miR-4762-5p	CLIP-seq
MIRT974005	hsa-miR-4799-5p	CLIP-seq
MIRT974006	hsa-miR-4801	CLIP-seq
MIRT974007	hsa-miR-520d-5p	CLIP-seq
MIRT974008	hsa-miR-524-5p	CLIP-seq
MIRT974009	hsa-miR-568	CLIP-seq
MIRT974010	hsa-miR-630	CLIP-seq
MIRT974011	hsa-miR-643	CLIP-seq
MIRT974012	hsa-miR-663	CLIP-seq
MIRT974013	hsa-miR-744	CLIP-seq
MIRT974014	hsa-miR-762	CLIP-seq
MIRT974015	hsa-miR-877	CLIP-seq
MIRT974016	hsa-miR-885-3p	CLIP-seq
MIRT974017	hsa-miR-3126-5p	CLIP-seq
MIRT974018	hsa-miR-3200-5p	CLIP-seq
MIRT974019	hsa-miR-384	CLIP-seq
MIRT974020	hsa-miR-432	CLIP-seq
MIRT974021	hsa-miR-4419a	CLIP-seq
MIRT973993	hsa-miR-4485	CLIP-seq
MIRT974022	hsa-miR-4510	CLIP-seq
MIRT974023	hsa-miR-4649-3p	CLIP-seq
MIRT974024	hsa-miR-4722-3p	CLIP-seq
MIRT973999	hsa-miR-4731-3p	CLIP-seq
MIRT974025	hsa-miR-4744	CLIP-seq
MIRT974006	hsa-miR-4801	CLIP-seq
MIRT974026	hsa-miR-548u	CLIP-seq
MIRT974027	hsa-miR-890	CLIP-seq
MIRT1988551	hsa-miR-1252	CLIP-seq
MIRT1988552	hsa-miR-1281	CLIP-seq
MIRT1988553	hsa-miR-1322	CLIP-seq
MIRT1988554	hsa-miR-148a	CLIP-seq
MIRT1988555	hsa-miR-148b	CLIP-seq
MIRT1988556	hsa-miR-152	CLIP-seq
MIRT973982	hsa-miR-1972	CLIP-seq
MIRT973984	hsa-miR-3121-3p	CLIP-seq
MIRT973986	hsa-miR-338-3p	CLIP-seq
MIRT1988557	hsa-miR-345	CLIP-seq
MIRT973987	hsa-miR-34c-3p	CLIP-seq
MIRT1988558	hsa-miR-3611	CLIP-seq
MIRT973988	hsa-miR-3614-5p	CLIP-seq
MIRT973989	hsa-miR-377	CLIP-seq
MIRT973991	hsa-miR-410	CLIP-seq
MIRT1988559	hsa-miR-4292	CLIP-seq
MIRT1988560	hsa-miR-4304	CLIP-seq
MIRT1988561	hsa-miR-4308	CLIP-seq
MIRT1988562	hsa-miR-4428	CLIP-seq
MIRT1988563	hsa-miR-4438	CLIP-seq
MIRT973992	hsa-miR-4481	CLIP-seq
MIRT1988564	hsa-miR-4494	CLIP-seq
MIRT1988565	hsa-miR-4519	CLIP-seq
MIRT973997	hsa-miR-4522	CLIP-seq
MIRT1988566	hsa-miR-4642	CLIP-seq
MIRT973998	hsa-miR-4670-3p	CLIP-seq
MIRT1988567	hsa-miR-4690-3p	CLIP-seq
MIRT1988568	hsa-miR-4705	CLIP-seq
MIRT1988569	hsa-miR-4717-3p	CLIP-seq
MIRT974024	hsa-miR-4722-3p	CLIP-seq
MIRT1988570	hsa-miR-4728-3p	CLIP-seq
MIRT974025	hsa-miR-4744	CLIP-seq
MIRT974002	hsa-miR-4745-5p	CLIP-seq
MIRT974003	hsa-miR-4758-5p	CLIP-seq
MIRT1988571	hsa-miR-4760-3p	CLIP-seq
MIRT974004	hsa-miR-4762-5p	CLIP-seq
MIRT974005	hsa-miR-4799-5p	CLIP-seq
MIRT1988572	hsa-miR-495	CLIP-seq
MIRT1988573	hsa-miR-499a-5p	CLIP-seq
MIRT1988574	hsa-miR-5095	CLIP-seq
MIRT1988575	hsa-miR-510	CLIP-seq
MIRT1988576	hsa-miR-512-5p	CLIP-seq
MIRT1988577	hsa-miR-518a-5p	CLIP-seq
MIRT1988578	hsa-miR-527	CLIP-seq
MIRT1988579	hsa-miR-550b	CLIP-seq
MIRT1988580	hsa-miR-566	CLIP-seq
MIRT974009	hsa-miR-568	CLIP-seq
MIRT1988581	hsa-miR-628-5p	CLIP-seq
MIRT974011	hsa-miR-643	CLIP-seq
MIRT2222991	hsa-miR-1202	CLIP-seq
MIRT2222992	hsa-miR-1207-3p	CLIP-seq
MIRT2222993	hsa-miR-1208	CLIP-seq
MIRT2222994	hsa-miR-122	CLIP-seq
MIRT2222995	hsa-miR-1225-5p	CLIP-seq
MIRT2222996	hsa-miR-1236	CLIP-seq
MIRT1988551	hsa-miR-1252	CLIP-seq
MIRT2222997	hsa-miR-1271	CLIP-seq
MIRT2222998	hsa-miR-1289	CLIP-seq
MIRT1988553	hsa-miR-1322	CLIP-seq
MIRT1988554	hsa-miR-148a	CLIP-seq
MIRT1988555	hsa-miR-148b	CLIP-seq
MIRT1988556	hsa-miR-152	CLIP-seq
MIRT2222999	hsa-miR-1910	CLIP-seq
MIRT973982	hsa-miR-1972	CLIP-seq
MIRT2223000	hsa-miR-27a	CLIP-seq
MIRT2223001	hsa-miR-27b	CLIP-seq
MIRT973984	hsa-miR-3121-3p	CLIP-seq
MIRT2223002	hsa-miR-3135b	CLIP-seq
MIRT2223003	hsa-miR-3194-5p	CLIP-seq
MIRT2223004	hsa-miR-3198	CLIP-seq
MIRT973986	hsa-miR-338-3p	CLIP-seq
MIRT1988557	hsa-miR-345	CLIP-seq
MIRT2223005	hsa-miR-346	CLIP-seq
MIRT973987	hsa-miR-34c-3p	CLIP-seq
MIRT1988558	hsa-miR-3611	CLIP-seq
MIRT973988	hsa-miR-3614-5p	CLIP-seq
MIRT2223006	hsa-miR-3689d	CLIP-seq
MIRT2223007	hsa-miR-370	CLIP-seq
MIRT973989	hsa-miR-377	CLIP-seq
MIRT2223008	hsa-miR-3972	CLIP-seq
MIRT973991	hsa-miR-410	CLIP-seq
MIRT2223009	hsa-miR-412	CLIP-seq
MIRT2223010	hsa-miR-4288	CLIP-seq
MIRT1988560	hsa-miR-4304	CLIP-seq
MIRT2223011	hsa-miR-4309	CLIP-seq
MIRT1988562	hsa-miR-4428	CLIP-seq
MIRT2223012	hsa-miR-4459	CLIP-seq
MIRT1988565	hsa-miR-4519	CLIP-seq
MIRT2223013	hsa-miR-4520a-5p	CLIP-seq
MIRT2223014	hsa-miR-4520b-5p	CLIP-seq
MIRT973997	hsa-miR-4522	CLIP-seq
MIRT2223015	hsa-miR-455-3p	CLIP-seq
MIRT1988566	hsa-miR-4642	CLIP-seq
MIRT2223016	hsa-miR-4650-5p	CLIP-seq
MIRT973998	hsa-miR-4670-3p	CLIP-seq
MIRT1988568	hsa-miR-4705	CLIP-seq
MIRT1988569	hsa-miR-4717-3p	CLIP-seq
MIRT974024	hsa-miR-4722-3p	CLIP-seq
MIRT2223017	hsa-miR-4727-5p	CLIP-seq
MIRT1988570	hsa-miR-4728-3p	CLIP-seq
MIRT2223018	hsa-miR-4734	CLIP-seq
MIRT974001	hsa-miR-4742-3p	CLIP-seq
MIRT2223019	hsa-miR-4769-3p	CLIP-seq
MIRT2223020	hsa-miR-4797-5p	CLIP-seq
MIRT1988575	hsa-miR-510	CLIP-seq
MIRT1988576	hsa-miR-512-5p	CLIP-seq
MIRT2223021	hsa-miR-513a-5p	CLIP-seq
MIRT1988579	hsa-miR-550b	CLIP-seq
MIRT2223022	hsa-miR-555	CLIP-seq
MIRT974009	hsa-miR-568	CLIP-seq
MIRT1988581	hsa-miR-628-5p	CLIP-seq
MIRT2223023	hsa-miR-632	CLIP-seq
MIRT974011	hsa-miR-643	CLIP-seq
MIRT2223024	hsa-miR-654-3p	CLIP-seq
MIRT2223025	hsa-miR-765	CLIP-seq
MIRT2223026	hsa-miR-96	CLIP-seq
MIRT973982	hsa-miR-1972	CLIP-seq
MIRT1988564	hsa-miR-4494	CLIP-seq
MIRT973997	hsa-miR-4522	CLIP-seq
MIRT1988573	hsa-miR-499a-5p	CLIP-seq
MIRT974011	hsa-miR-643	CLIP-seq
MIRT2222991	hsa-miR-1202	CLIP-seq
MIRT2222993	hsa-miR-1208	CLIP-seq
MIRT973978	hsa-miR-1303	CLIP-seq
MIRT2526946	hsa-miR-134	CLIP-seq
MIRT2526947	hsa-miR-153	CLIP-seq
MIRT2526948	hsa-miR-2110	CLIP-seq
MIRT973983	hsa-miR-299-5p	CLIP-seq
MIRT2526949	hsa-miR-3064-3p	CLIP-seq
MIRT2526950	hsa-miR-3118	CLIP-seq
MIRT2223003	hsa-miR-3194-5p	CLIP-seq
MIRT2526951	hsa-miR-3607-3p	CLIP-seq
MIRT2526952	hsa-miR-3686	CLIP-seq
MIRT2526953	hsa-miR-380	CLIP-seq
MIRT2223008	hsa-miR-3972	CLIP-seq
MIRT2526954	hsa-miR-4271	CLIP-seq
MIRT2526955	hsa-miR-4418	CLIP-seq
MIRT2526956	hsa-miR-4495	CLIP-seq
MIRT2223013	hsa-miR-4520a-5p	CLIP-seq
MIRT2223014	hsa-miR-4520b-5p	CLIP-seq
MIRT2526957	hsa-miR-4659a-5p	CLIP-seq
MIRT2526958	hsa-miR-4659b-5p	CLIP-seq
MIRT2526959	hsa-miR-4666-5p	CLIP-seq
MIRT2526960	hsa-miR-4667-5p	CLIP-seq
MIRT2526961	hsa-miR-4668-5p	CLIP-seq
MIRT2526962	hsa-miR-4685-5p	CLIP-seq
MIRT2526963	hsa-miR-4700-5p	CLIP-seq
MIRT2526964	hsa-miR-4725-3p	CLIP-seq
MIRT2223017	hsa-miR-4727-5p	CLIP-seq
MIRT2223019	hsa-miR-4769-3p	CLIP-seq
MIRT2526965	hsa-miR-4778-5p	CLIP-seq
MIRT1988572	hsa-miR-495	CLIP-seq
MIRT2526966	hsa-miR-499-3p	CLIP-seq
MIRT2526967	hsa-miR-499a-3p	CLIP-seq
MIRT2526968	hsa-miR-500a	CLIP-seq
MIRT2526969	hsa-miR-509-3-5p	CLIP-seq
MIRT2526970	hsa-miR-509-5p	CLIP-seq
MIRT2526971	hsa-miR-548ag	CLIP-seq
MIRT2526972	hsa-miR-548ai	CLIP-seq
MIRT2526973	hsa-miR-548m	CLIP-seq
MIRT2526974	hsa-miR-548n	CLIP-seq
MIRT2526975	hsa-miR-548t	CLIP-seq
MIRT1988580	hsa-miR-566	CLIP-seq
MIRT2526976	hsa-miR-570	CLIP-seq
MIRT2526977	hsa-miR-595	CLIP-seq
MIRT2526978	hsa-miR-648	CLIP-seq
MIRT974015	hsa-miR-877	CLIP-seq
MIRT2526979	hsa-miR-885-5p	CLIP-seq
MIRT1988572	hsa-miR-495	CLIP-seq
MIRT2680427	hsa-miR-103a	CLIP-seq
MIRT2680428	hsa-miR-107	CLIP-seq
MIRT2680429	hsa-miR-1184	CLIP-seq
MIRT973978	hsa-miR-1303	CLIP-seq
MIRT2526946	hsa-miR-134	CLIP-seq
MIRT2526947	hsa-miR-153	CLIP-seq
MIRT2680430	hsa-miR-214	CLIP-seq
MIRT973983	hsa-miR-299-5p	CLIP-seq
MIRT2526949	hsa-miR-3064-3p	CLIP-seq
MIRT2526950	hsa-miR-3118	CLIP-seq
MIRT2526951	hsa-miR-3607-3p	CLIP-seq
MIRT2680431	hsa-miR-3619-5p	CLIP-seq
MIRT2526952	hsa-miR-3686	CLIP-seq
MIRT2526953	hsa-miR-380	CLIP-seq
MIRT2680432	hsa-miR-4267	CLIP-seq
MIRT2526955	hsa-miR-4418	CLIP-seq
MIRT2526956	hsa-miR-4495	CLIP-seq
MIRT2680433	hsa-miR-4514	CLIP-seq
MIRT2526957	hsa-miR-4659a-5p	CLIP-seq
MIRT2526958	hsa-miR-4659b-5p	CLIP-seq
MIRT2526959	hsa-miR-4666-5p	CLIP-seq
MIRT2680434	hsa-miR-4690-5p	CLIP-seq
MIRT2680435	hsa-miR-4692	CLIP-seq
MIRT2680436	hsa-miR-4736	CLIP-seq
MIRT2526965	hsa-miR-4778-5p	CLIP-seq
MIRT2526966	hsa-miR-499-3p	CLIP-seq
MIRT2526967	hsa-miR-499a-3p	CLIP-seq
MIRT2526968	hsa-miR-500a	CLIP-seq
MIRT2526969	hsa-miR-509-3-5p	CLIP-seq
MIRT2526970	hsa-miR-509-5p	CLIP-seq
MIRT2526974	hsa-miR-548n	CLIP-seq
MIRT2526975	hsa-miR-548t	CLIP-seq
MIRT2526977	hsa-miR-595	CLIP-seq
MIRT2526978	hsa-miR-648	CLIP-seq
MIRT2680437	hsa-miR-761	CLIP-seq
MIRT974015	hsa-miR-877	CLIP-seq
MIRT2526979	hsa-miR-885-5p	CLIP-seq
MIRT2680438	hsa-miR-940	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
FOS	Activation	19164283
JUN	Activation	19164283
SP1	Activation	19164283

Show/Hide all(100)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	20551903
GO:0001650	Component	Fibrillar center	IDA
GO:0001726	Component	Ruffle	IDA	9852149, 25554515
GO:0001772	Component	Immunological synapse	IDA	20551903
GO:0001772	Component	Immunological synapse	IDA	17911601
GO:0001931	Component	Uropod	IEA
GO:0001951	Process	Intestinal D-glucose absorption	IEA
GO:0003376	Process	Sphingosine-1-phosphate receptor signaling pathway	IMP	23106337
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003779	Function	Actin binding	IDA	17825285
GO:0005515	Function	Protein binding	IPI	7844168, 10793131, 10806479, 11598191, 12651155, 15020681, 15498789, 17046996, 17242191, 17500595, 17911601, 18046454, 19555689, 20195357, 20442317, 20551903, 20937695, 21148287, 21849478, 22570591, 22805611, 23414517, 24555568, 25554515, 25591774, 26496610, 28514442, 29568061, 3183
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IDA	23106337, 25554515, 25591774
GO:0005768	Component	Endosome	IDA	21148287
GO:0005829	Component	Cytosol	IDA	9852149
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IDA	11598191
GO:0005886	Component	Plasma membrane	IDA	23106337
GO:0005902	Component	Microvillus	IDA	12082081
GO:0005903	Component	Brush border	ISS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IDA	21282464
GO:0007159	Process	Leukocyte cell-cell adhesion	IEP	12082081
GO:0007411	Process	Axon guidance	TAS
GO:0008017	Function	Microtubule binding	IMP	23857773
GO:0008022	Function	Protein C-terminus binding	IEA
GO:0008360	Process	Regulation of cell shape	IMP	20551903
GO:0008361	Process	Regulation of cell size	IMP	22467863
GO:0010628	Process	Positive regulation of gene expression	IGI	23264465
GO:0010737	Process	Protein kinase A signaling	IMP	17911601
GO:0015629	Component	Actin cytoskeleton	IDA	10793131
GO:0016020	Component	Membrane	HDA	19946888
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IDA	17825285, 22797597, 24862762
GO:0019898	Component	Extrinsic component of membrane	IDA	7844168
GO:0019904	Function	Protein domain specific binding	IPI	25554515
GO:0022612	Process	Gland morphogenesis	IMP	24862762
GO:0022614	Process	Membrane to membrane docking	IEP	12082081
GO:0030033	Process	Microvillus assembly	IMP	22797597
GO:0030175	Component	Filopodium	IDA	12082081, 23106337
GO:0030315	Component	T-tubule	IEA
GO:0030863	Component	Cortical cytoskeleton	TAS	11598191
GO:0030953	Process	Astral microtubule organization	IMP	20551903
GO:0031528	Component	Microvillus membrane	IEA
GO:0031532	Process	Actin cytoskeleton reorganization	IMP	23106337
GO:0031623	Process	Receptor internalization	IEA
GO:0031982	Component	Vesicle	HDA	19190083
GO:0032532	Process	Regulation of microvillus length	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0032703	Process	Negative regulation of interleukin-2 production	IMP	17911601
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	20551903
GO:0032991	Component	Protein-containing complex	IDA	25097019
GO:0034236	Function	Protein kinase A catalytic subunit binding	IPI	17911601
GO:0034237	Function	Protein kinase A regulatory subunit binding	IPI	17911601
GO:0034629	Process	Cellular protein-containing complex localization	IMP	20551903
GO:0036064	Component	Ciliary basal body	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	21988832, 29568061, 31837246
GO:0042995	Component	Cell projection	IDA	25889165
GO:0043622	Process	Cortical microtubule organization	IMP	20551903
GO:0044297	Component	Cell body	IEA
GO:0044393	Component	Microspike	IEA
GO:0044548	Function	S100 protein binding	IPI	25554515
GO:0044853	Component	Plasma membrane raft	IDA	17911601
GO:0045177	Component	Apical part of cell	IDA	12082081
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IMP	22797597, 24862762
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046847	Process	Filopodium assembly	IMP	23106337
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IDA	25591774
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	24862762
GO:0050714	Process	Positive regulation of protein secretion	IMP	25591774
GO:0050839	Function	Cell adhesion molecule binding	IPI	12082081, 15498789
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IMP	20551903
GO:0051015	Function	Actin filament binding	IDA	10793131
GO:0051017	Process	Actin filament bundle assembly	IDA	10793131
GO:0051018	Function	Protein kinase A binding	IPI	25097019
GO:0051117	Function	ATPase binding	IPI	17825285
GO:0051286	Component	Cell tip	IEA
GO:0051660	Process	Establishment of centrosome localization	IMP	20551903
GO:0061028	Process	Establishment of endothelial barrier	IGI	23264465
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IMP	20551903
GO:0071320	Process	Cellular response to cAMP	IMP	17911601
GO:0071944	Component	Cell periphery	IDA	22291017
GO:0072659	Process	Protein localization to plasma membrane	IMP	17825285, 17911601
GO:0072697	Process	Protein localization to cell cortex	IMP	25554515
GO:0097449	Component	Astrocyte projection	IEA
GO:0097454	Component	Schwann cell microvillus	IEA
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0098592	Component	Cytoplasmic side of apical plasma membrane	IDA	25591774
GO:1901222	Process	Regulation of NIK/NF-kappaB signaling	IMP	20551903
GO:1902115	Process	Regulation of organelle assembly	IGI	21148287
GO:1902115	Process	Regulation of organelle assembly	IMP	21148287
GO:1902896	Process	Terminal web assembly	IEA
GO:1902966	Process	Positive regulation of protein localization to early endosome	IGI	21148287
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:1903364	Process	Positive regulation of cellular protein catabolic process	IGI	21148287
GO:1903753	Process	Negative regulation of p38MAPK cascade	IMP	20551903
GO:2000643	Process	Positive regulation of early endosome to late endosome transport	IGI	21148287
GO:2000643	Process	Positive regulation of early endosome to late endosome transport	IMP	21148287

MIM	HGNC	e!Ensembl
123900	12691	ENSG00000092820

Protein

UniProt ID

P15311

Protein name

Ezrin (Cytovillin) (Villin-2) (p81)

Protein function

Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocyt

PDB

1NI2 , 4RM8 , 4RM9 , 4RMA , 7T1K , 7T1L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09379	FERM_N	9 → 71	FERM N-terminal domain	Domain
PF00373	FERM_M	88 → 206	FERM central domain	Domain
PF09380	FERM_C	210 → 299	FERM C-terminal PH-like domain	Domain
PF00769	ERM	338 → 586	Ezrin/radixin/moesin family	Coiled-coil

Sequence

MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLK
LDKKVSAQEVRKENPLQFKFRAKFYPEDVAEELIQDITQKLFFLQVKEGILSDEIYCPPE
TAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQHKLTRDQWEDRIQVWHAEHR
GMLKDNAMLEYLKIAQDLEMYGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGF
PWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTI
EVQQMKAQAREEKHQKQLERQQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKK
AERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAKEELERQAVDQIKSQEQLAAE
LAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEP
VSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITEAEKNERVQRQLLTLSSELSQ
ARDENKRTHNDIIHNENMRQGRDKYKTLRQIRQGNTKQRIDEFEAL

Sequence length

586

Interactions

View interactions

	KEGG		Reactome
	Tight junction Leukocyte transendothelial migration Regulation of actin cytoskeleton Gastric acid secretion Pathogenic Escherichia coli infection Proteoglycans in cancer MicroRNAs in cancer		Netrin-1 signaling Recycling pathway of L1

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12376462
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	24763052, 17013881, 17566973
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Show/Hide Unknown Diseases (15)

Unknown
Disease name	Disease term	dbSNP ID	References
Absence of septum pellucidum	Absence of septum pellucidum
Anaplastic carcinoma	Anaplastic carcinoma		12376462
Central visual impairment	Central visual impairment
Cerebral atrophy	Cerebral atrophy
Cortical dysplasia	Cortical Dysplasia
Dyskinetic syndrome	Dyskinetic syndrome
Dyssomnia	Dyssomnias
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Mental depression	Depressive disorder	rs587778876, rs587778877
Motor delay	Clumsiness - motor delay
Osteoarthrosis deformans	Osteoarthrosis Deformans		18784066
Prostatic neoplasms	Prostatic Neoplasms		17013881, 24763052, 17566973
Salaam seizures	Salaam Seizures
Sleep disorders	Sleep Disorders
Stereotyped behavior	Stereotyped Behavior

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