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	4645
Gene name	Myosin VB
Gene symbol	MYO5B
Synonyms (NCBI Gene)	DIAR2MVID1PFIC10
Chromosome	18
Chromosome location	18q21.1
Summary	The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908103	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121908104	C>T	Pathogenic	Stop gained, coding sequence variant
rs121908105	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs121908106	G>A	Pathogenic	Missense variant, coding sequence variant
rs192207329	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs727505394	A>G,T	Pathogenic	Splice donor variant
rs727505395	C>T	Likely-pathogenic	Intron variant
rs1053713532	C>T	Pathogenic	Missense variant, coding sequence variant
rs1166138315	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1298330895	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555648414	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1568049625	T>C,G	Pathogenic	Splice acceptor variant
rs1598840811	->T	Likely-pathogenic	Coding sequence variant, frameshift variant

293

Show/Hide all (293)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027199	hsa-miR-103a-3p	Sequencing	20371350
MIRT032002	hsa-miR-16-5p	Sequencing	20371350
MIRT656022	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT656021	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT656020	hsa-miR-587	HITS-CLIP	23824327
MIRT440162	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440162	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT656022	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT656021	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT656020	hsa-miR-587	HITS-CLIP	23824327
MIRT1169844	hsa-let-7a	CLIP-seq
MIRT1169845	hsa-let-7b	CLIP-seq
MIRT1169846	hsa-let-7c	CLIP-seq
MIRT1169847	hsa-let-7d	CLIP-seq
MIRT1169848	hsa-let-7e	CLIP-seq
MIRT1169849	hsa-let-7f	CLIP-seq
MIRT1169850	hsa-let-7g	CLIP-seq
MIRT1169851	hsa-let-7i	CLIP-seq
MIRT1169852	hsa-miR-103a	CLIP-seq
MIRT1169853	hsa-miR-107	CLIP-seq
MIRT1169854	hsa-miR-1276	CLIP-seq
MIRT1169855	hsa-miR-1278	CLIP-seq
MIRT1169856	hsa-miR-2052	CLIP-seq
MIRT1169857	hsa-miR-2054	CLIP-seq
MIRT1169858	hsa-miR-21	CLIP-seq
MIRT1169859	hsa-miR-2113	CLIP-seq
MIRT1169860	hsa-miR-24	CLIP-seq
MIRT1169861	hsa-miR-302f	CLIP-seq
MIRT1169862	hsa-miR-3122	CLIP-seq
MIRT1169863	hsa-miR-3130-5p	CLIP-seq
MIRT1169864	hsa-miR-3153	CLIP-seq
MIRT1169865	hsa-miR-3156-3p	CLIP-seq
MIRT1169866	hsa-miR-3177-5p	CLIP-seq
MIRT1169867	hsa-miR-3607-5p	CLIP-seq
MIRT1169868	hsa-miR-3609	CLIP-seq
MIRT1169869	hsa-miR-3646	CLIP-seq
MIRT1169870	hsa-miR-365	CLIP-seq
MIRT1169871	hsa-miR-3668	CLIP-seq
MIRT1169872	hsa-miR-380	CLIP-seq
MIRT1169873	hsa-miR-3913-5p	CLIP-seq
MIRT1169874	hsa-miR-4282	CLIP-seq
MIRT1169875	hsa-miR-4284	CLIP-seq
MIRT1169876	hsa-miR-4291	CLIP-seq
MIRT1169877	hsa-miR-4301	CLIP-seq
MIRT1169878	hsa-miR-4311	CLIP-seq
MIRT1169879	hsa-miR-4458	CLIP-seq
MIRT1169880	hsa-miR-4480	CLIP-seq
MIRT1169881	hsa-miR-4482	CLIP-seq
MIRT1169882	hsa-miR-4500	CLIP-seq
MIRT1169883	hsa-miR-450b-5p	CLIP-seq
MIRT1169884	hsa-miR-4517	CLIP-seq
MIRT1169885	hsa-miR-4641	CLIP-seq
MIRT1169886	hsa-miR-4668-5p	CLIP-seq
MIRT1169887	hsa-miR-4719	CLIP-seq
MIRT1169888	hsa-miR-4729	CLIP-seq
MIRT1169889	hsa-miR-4732-5p	CLIP-seq
MIRT1169890	hsa-miR-4735-5p	CLIP-seq
MIRT1169891	hsa-miR-4760-5p	CLIP-seq
MIRT1169892	hsa-miR-4799-5p	CLIP-seq
MIRT1169893	hsa-miR-518a-5p	CLIP-seq
MIRT1169894	hsa-miR-520d-5p	CLIP-seq
MIRT1169895	hsa-miR-524-5p	CLIP-seq
MIRT1169896	hsa-miR-527	CLIP-seq
MIRT1169897	hsa-miR-532-3p	CLIP-seq
MIRT1169898	hsa-miR-545	CLIP-seq
MIRT1169899	hsa-miR-548ah	CLIP-seq
MIRT1169900	hsa-miR-548t	CLIP-seq
MIRT1169901	hsa-miR-576-5p	CLIP-seq
MIRT1169902	hsa-miR-582-5p	CLIP-seq
MIRT1169903	hsa-miR-583	CLIP-seq
MIRT1169904	hsa-miR-584	CLIP-seq
MIRT1169905	hsa-miR-590-5p	CLIP-seq
MIRT1169906	hsa-miR-98	CLIP-seq
MIRT2048942	hsa-miR-1253	CLIP-seq
MIRT2048943	hsa-miR-2278	CLIP-seq
MIRT2048944	hsa-miR-3120-5p	CLIP-seq
MIRT2048945	hsa-miR-3199	CLIP-seq
MIRT2048946	hsa-miR-3910	CLIP-seq
MIRT2048947	hsa-miR-3978	CLIP-seq
MIRT2048948	hsa-miR-4511	CLIP-seq
MIRT1169887	hsa-miR-4719	CLIP-seq
MIRT1169890	hsa-miR-4735-5p	CLIP-seq
MIRT2048949	hsa-miR-4778-5p	CLIP-seq
MIRT1169898	hsa-miR-545	CLIP-seq
MIRT2048950	hsa-miR-568	CLIP-seq
MIRT2048951	hsa-miR-7	CLIP-seq
MIRT1169852	hsa-miR-103a	CLIP-seq
MIRT2277853	hsa-miR-106a	CLIP-seq
MIRT2277854	hsa-miR-106b	CLIP-seq
MIRT1169853	hsa-miR-107	CLIP-seq
MIRT2277855	hsa-miR-1178	CLIP-seq
MIRT2277856	hsa-miR-1183	CLIP-seq
MIRT2277857	hsa-miR-1229	CLIP-seq
MIRT2277858	hsa-miR-1231	CLIP-seq
MIRT2277859	hsa-miR-1237	CLIP-seq
MIRT2277860	hsa-miR-1248	CLIP-seq
MIRT2277861	hsa-miR-1273d	CLIP-seq
MIRT2277862	hsa-miR-1273f	CLIP-seq
MIRT2277863	hsa-miR-1323	CLIP-seq
MIRT2277864	hsa-miR-15a	CLIP-seq
MIRT2277865	hsa-miR-15b	CLIP-seq
MIRT2277866	hsa-miR-16	CLIP-seq
MIRT2277867	hsa-miR-17	CLIP-seq
MIRT2277868	hsa-miR-181a	CLIP-seq
MIRT2277869	hsa-miR-181b	CLIP-seq
MIRT2277870	hsa-miR-181c	CLIP-seq
MIRT2277871	hsa-miR-181d	CLIP-seq
MIRT2277872	hsa-miR-1827	CLIP-seq
MIRT2277873	hsa-miR-1910	CLIP-seq
MIRT2277874	hsa-miR-193a-3p	CLIP-seq
MIRT2277875	hsa-miR-193b	CLIP-seq
MIRT2277876	hsa-miR-195	CLIP-seq
MIRT2277877	hsa-miR-199a-3p	CLIP-seq
MIRT2277878	hsa-miR-199b-3p	CLIP-seq
MIRT2277879	hsa-miR-19a	CLIP-seq
MIRT2277880	hsa-miR-19b	CLIP-seq
MIRT2277881	hsa-miR-200b	CLIP-seq
MIRT2277882	hsa-miR-200c	CLIP-seq
MIRT2277883	hsa-miR-205	CLIP-seq
MIRT1169857	hsa-miR-2054	CLIP-seq
MIRT2277884	hsa-miR-20a	CLIP-seq
MIRT2277885	hsa-miR-20b	CLIP-seq
MIRT1169858	hsa-miR-21	CLIP-seq
MIRT1169859	hsa-miR-2113	CLIP-seq
MIRT2277886	hsa-miR-2116	CLIP-seq
MIRT2277887	hsa-miR-214	CLIP-seq
MIRT2277888	hsa-miR-219-2-3p	CLIP-seq
MIRT2277889	hsa-miR-223	CLIP-seq
MIRT2277890	hsa-miR-2277-3p	CLIP-seq
MIRT2048943	hsa-miR-2278	CLIP-seq
MIRT2277891	hsa-miR-23a	CLIP-seq
MIRT2277892	hsa-miR-23b	CLIP-seq
MIRT2277893	hsa-miR-23c	CLIP-seq
MIRT2277894	hsa-miR-2681	CLIP-seq
MIRT2277895	hsa-miR-2682	CLIP-seq
MIRT2277896	hsa-miR-2964a-3p	CLIP-seq
MIRT2277897	hsa-miR-297	CLIP-seq
MIRT2277898	hsa-miR-3065-3p	CLIP-seq
MIRT2277899	hsa-miR-30a	CLIP-seq
MIRT2277900	hsa-miR-30b	CLIP-seq
MIRT2277901	hsa-miR-30c	CLIP-seq
MIRT2277902	hsa-miR-30d	CLIP-seq
MIRT2277903	hsa-miR-30e	CLIP-seq
MIRT2277904	hsa-miR-3117-5p	CLIP-seq
MIRT1169862	hsa-miR-3122	CLIP-seq
MIRT2277905	hsa-miR-3129-5p	CLIP-seq
MIRT2277906	hsa-miR-3140-5p	CLIP-seq
MIRT2277907	hsa-miR-3144-3p	CLIP-seq
MIRT1169864	hsa-miR-3153	CLIP-seq
MIRT2277908	hsa-miR-3163	CLIP-seq
MIRT2277909	hsa-miR-3176	CLIP-seq
MIRT1169866	hsa-miR-3177-5p	CLIP-seq
MIRT2277910	hsa-miR-3198	CLIP-seq
MIRT1169867	hsa-miR-3607-5p	CLIP-seq
MIRT1169868	hsa-miR-3609	CLIP-seq
MIRT2277911	hsa-miR-3614-5p	CLIP-seq
MIRT2277912	hsa-miR-3619-5p	CLIP-seq
MIRT2277913	hsa-miR-362-5p	CLIP-seq
MIRT1169869	hsa-miR-3646	CLIP-seq
MIRT1169870	hsa-miR-365	CLIP-seq
MIRT2277914	hsa-miR-3663-5p	CLIP-seq
MIRT1169871	hsa-miR-3668	CLIP-seq
MIRT2277915	hsa-miR-3680	CLIP-seq
MIRT2277916	hsa-miR-3689d	CLIP-seq
MIRT2277917	hsa-miR-3691-5p	CLIP-seq
MIRT2277918	hsa-miR-369-3p	CLIP-seq
MIRT2277919	hsa-miR-3714	CLIP-seq
MIRT2277920	hsa-miR-371b-5p	CLIP-seq
MIRT2277921	hsa-miR-374a	CLIP-seq
MIRT2277922	hsa-miR-374b	CLIP-seq
MIRT2277923	hsa-miR-374c	CLIP-seq
MIRT1169872	hsa-miR-380	CLIP-seq
MIRT1169873	hsa-miR-3913-5p	CLIP-seq
MIRT2277924	hsa-miR-3922-3p	CLIP-seq
MIRT2277925	hsa-miR-3924	CLIP-seq
MIRT2277926	hsa-miR-3977	CLIP-seq
MIRT2277927	hsa-miR-409-3p	CLIP-seq
MIRT2277928	hsa-miR-424	CLIP-seq
MIRT2277929	hsa-miR-425	CLIP-seq
MIRT2277930	hsa-miR-4262	CLIP-seq
MIRT2277931	hsa-miR-4276	CLIP-seq
MIRT2277932	hsa-miR-4281	CLIP-seq
MIRT2277933	hsa-miR-429	CLIP-seq
MIRT1169876	hsa-miR-4291	CLIP-seq
MIRT2277934	hsa-miR-4307	CLIP-seq
MIRT2277935	hsa-miR-4309	CLIP-seq
MIRT2277936	hsa-miR-4310	CLIP-seq
MIRT2277937	hsa-miR-432	CLIP-seq
MIRT2277938	hsa-miR-4320	CLIP-seq
MIRT2277939	hsa-miR-4323	CLIP-seq
MIRT2277940	hsa-miR-433	CLIP-seq
MIRT2277941	hsa-miR-4427	CLIP-seq
MIRT2277942	hsa-miR-4432	CLIP-seq
MIRT2277943	hsa-miR-4452	CLIP-seq
MIRT2277944	hsa-miR-4463	CLIP-seq
MIRT2277945	hsa-miR-4493	CLIP-seq
MIRT2277946	hsa-miR-4495	CLIP-seq
MIRT2277947	hsa-miR-449c	CLIP-seq
MIRT2277948	hsa-miR-450b-3p	CLIP-seq
MIRT1169883	hsa-miR-450b-5p	CLIP-seq
MIRT1169884	hsa-miR-4517	CLIP-seq
MIRT2277949	hsa-miR-4524	CLIP-seq
MIRT2277950	hsa-miR-4527	CLIP-seq
MIRT2277951	hsa-miR-4528	CLIP-seq
MIRT2277952	hsa-miR-4534	CLIP-seq
MIRT2277953	hsa-miR-4653-3p	CLIP-seq
MIRT2277954	hsa-miR-4659a-3p	CLIP-seq
MIRT2277955	hsa-miR-4659b-3p	CLIP-seq
MIRT1169886	hsa-miR-4668-5p	CLIP-seq
MIRT2277956	hsa-miR-4677-5p	CLIP-seq
MIRT2277957	hsa-miR-4687-3p	CLIP-seq
MIRT2277958	hsa-miR-4693-5p	CLIP-seq
MIRT2277959	hsa-miR-4694-5p	CLIP-seq
MIRT2277960	hsa-miR-4697-3p	CLIP-seq
MIRT2277961	hsa-miR-4698	CLIP-seq
MIRT2277962	hsa-miR-4699-3p	CLIP-seq
MIRT2277963	hsa-miR-4712-5p	CLIP-seq
MIRT2277964	hsa-miR-4717-3p	CLIP-seq
MIRT1169887	hsa-miR-4719	CLIP-seq
MIRT1169889	hsa-miR-4732-5p	CLIP-seq
MIRT2277965	hsa-miR-4752	CLIP-seq
MIRT2277966	hsa-miR-4764-5p	CLIP-seq
MIRT2277967	hsa-miR-4796-3p	CLIP-seq
MIRT2277968	hsa-miR-4797-5p	CLIP-seq
MIRT1169892	hsa-miR-4799-5p	CLIP-seq
MIRT2277969	hsa-miR-4802-3p	CLIP-seq
MIRT2277970	hsa-miR-485-5p	CLIP-seq
MIRT2277971	hsa-miR-490-5p	CLIP-seq
MIRT2277972	hsa-miR-491-3p	CLIP-seq
MIRT2277973	hsa-miR-497	CLIP-seq
MIRT2277974	hsa-miR-499-5p	CLIP-seq
MIRT2277975	hsa-miR-500b	CLIP-seq
MIRT2277976	hsa-miR-501-5p	CLIP-seq
MIRT2277977	hsa-miR-503	CLIP-seq
MIRT2277978	hsa-miR-516b	CLIP-seq
MIRT1169893	hsa-miR-518a-5p	CLIP-seq
MIRT2277979	hsa-miR-519a	CLIP-seq
MIRT2277980	hsa-miR-519b-3p	CLIP-seq
MIRT2277981	hsa-miR-519c-3p	CLIP-seq
MIRT2277982	hsa-miR-519d	CLIP-seq
MIRT2277983	hsa-miR-520g	CLIP-seq
MIRT2277984	hsa-miR-520h	CLIP-seq
MIRT1169896	hsa-miR-527	CLIP-seq
MIRT2277985	hsa-miR-542-3p	CLIP-seq
MIRT1169898	hsa-miR-545	CLIP-seq
MIRT1169899	hsa-miR-548ah	CLIP-seq
MIRT2277986	hsa-miR-548l	CLIP-seq
MIRT2277987	hsa-miR-548o	CLIP-seq
MIRT1169900	hsa-miR-548t	CLIP-seq
MIRT2277988	hsa-miR-552	CLIP-seq
MIRT2277989	hsa-miR-555	CLIP-seq
MIRT2277990	hsa-miR-562	CLIP-seq
MIRT2277991	hsa-miR-567	CLIP-seq
MIRT1169903	hsa-miR-583	CLIP-seq
MIRT1169904	hsa-miR-584	CLIP-seq
MIRT2277992	hsa-miR-590-3p	CLIP-seq
MIRT1169905	hsa-miR-590-5p	CLIP-seq
MIRT2277993	hsa-miR-595	CLIP-seq
MIRT2277994	hsa-miR-597	CLIP-seq
MIRT2277995	hsa-miR-607	CLIP-seq
MIRT2277996	hsa-miR-646	CLIP-seq
MIRT2277997	hsa-miR-654-3p	CLIP-seq
MIRT2277998	hsa-miR-655	CLIP-seq
MIRT2277999	hsa-miR-665	CLIP-seq
MIRT2278000	hsa-miR-668	CLIP-seq
MIRT2278001	hsa-miR-761	CLIP-seq
MIRT2278002	hsa-miR-769-3p	CLIP-seq
MIRT2278003	hsa-miR-770-5p	CLIP-seq
MIRT2278004	hsa-miR-875-5p	CLIP-seq
MIRT2278005	hsa-miR-888	CLIP-seq
MIRT2278006	hsa-miR-890	CLIP-seq
MIRT2278007	hsa-miR-922	CLIP-seq
MIRT2278008	hsa-miR-93	CLIP-seq
MIRT2278009	hsa-miR-935	CLIP-seq
MIRT2278010	hsa-miR-936	CLIP-seq
MIRT2278011	hsa-miR-940	CLIP-seq
MIRT2454726	hsa-miR-1262	CLIP-seq
MIRT2454727	hsa-miR-1273g	CLIP-seq
MIRT2454728	hsa-miR-1293	CLIP-seq
MIRT2454729	hsa-miR-335	CLIP-seq
MIRT2454730	hsa-miR-382	CLIP-seq
MIRT2454731	hsa-miR-4259	CLIP-seq
MIRT2454732	hsa-miR-4483	CLIP-seq
MIRT2454733	hsa-miR-4701-3p	CLIP-seq
MIRT2454734	hsa-miR-876-3p	CLIP-seq
MIRT2576508	hsa-miR-203	CLIP-seq
MIRT2277888	hsa-miR-219-2-3p	CLIP-seq
MIRT2277896	hsa-miR-2964a-3p	CLIP-seq
MIRT2277943	hsa-miR-4452	CLIP-seq
MIRT2576508	hsa-miR-203	CLIP-seq
MIRT2277888	hsa-miR-219-2-3p	CLIP-seq
MIRT2277896	hsa-miR-2964a-3p	CLIP-seq
MIRT2277943	hsa-miR-4452	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0003091	Process	Renal water homeostasis	TAS
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	19542231, 25416956, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0015031	Process	Protein transport	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IBA
GO:0016192	Process	Vesicle-mediated transport	IMP	17462998
GO:0016197	Process	Endosomal transport	IMP	21206382
GO:0016459	Component	Myosin complex	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	17462998
GO:0032991	Component	Protein-containing complex	IDA	17462998
GO:0045179	Component	Apical cortex	IDA	21206382
GO:0051015	Function	Actin filament binding	IBA
GO:0055037	Component	Recycling endosome	IC	21206382
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
606540	7603	ENSG00000167306

Q9ULV0

Protein name

Unconventional myosin-Vb

Protein function

May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the

PDB

4J5M , 4LNZ , 4LWZ , 4LX0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00063	Myosin_head	71 → 749	Myosin head (motor domain)	Domain
PF00612	IQ	765 → 785	IQ calmodulin-binding motif	Motif
PF00612	IQ	788 → 808	IQ calmodulin-binding motif	Motif
PF00612	IQ	813 → 833	IQ calmodulin-binding motif	Motif
PF00612	IQ	836 → 856	IQ calmodulin-binding motif	Motif
PF00612	IQ	861 → 881	IQ calmodulin-binding motif	Motif
PF00612	IQ	884 → 904	IQ calmodulin-binding motif	Motif
PF01843	DIL	1680 → 1783	DIL domain	Family

Sequence

MSVGELYSQCTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLP
FLRNPDILVGENDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINPYEQLPIYG
QDVIYTYSGQNMGDMDPHIFAVAEEAYKQMARDEKNQSIIVSGESGAGKTVSAKYAMRYF
ATVGGSASETNIEEKVLASSPIMEAIGNAKTTRNDNSSRFGKYIQIGFDKRYHIIGANMR
TYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALTSAEDFFYTSQGGDTSIEGVD
DAEDFEKTRQAFTLLGVKESHQMSIFKIIASILHLGSVAIQAERDGDSCSISPQDVYLSN
FCRLLGVEHSQMEHWLCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHI
NKALHTSLKQHSFIGVLDIYGFETFEVNSFEQFCINYANEKLQQQFNSHVFKLEQEEYMK
EQIPWTLIDFYDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWAQKLYDRHSSSQHFQK
PRMSNTAFIIVHFADKVEYLSDGFLEKNRDTVYEEQINILKASKFPLVADLFHDDKDPVP
ATTPGKGSSSKISVRSARPPMKVSNKEHKKTVGHQFRTSLHLLMETLNATTPHYVRCIKP
NDEKLPFHFDPKRAVQQLRACGVLETIRISAAGYPSRWAYHDFFNRYRVLVKKRELANTD
KKAICRSVLENLIKDPDKFQFGRTKIFFRAGQVAYLEKLRADKFRTATIMIQKTVRGWLQ
KVKYHRLKGATLTLQRYCRGHLARRLAEHLRRIRAAVVLQKHYRMQRARQAYQRVRRAAV
VIQAFTRAMFVRRTYRQVLMEHKATTIQKHVRGWMARRHFQRLRDAAIVIQCAFRMLKAR
RELKALRIEARSAEHLKRLNVGMENKVVQLQRKIDEQNKEFKTLSEQLSVTTSTYTMEVE
RLKKELVHYQQSPGEDTSLRLQEEVESLRTELQRAHSERKILEDAHSREKDELRKRVADL
EQENALLKDEKEQLNNQILCQSKDEFAQNSVKENLMKKELEEERSRYQNLVKEYSQLEQR
YDNLRDEMTIIKQTPGHRRNPSNQSSLESDSNYPSISTSEIGDTEDALQQVEEIGLEKAA
MDMTVFLKLQKRVRELEQERKKLQVQLEKREQQDSKKVQAEPPQTDIDLDPNADLAYNSL
KRQELESENKKLKNDLNELRKAVADQATQNNSSHGSPDSYSLLLNQLKLAHEELEVRKEE
VLILRTQIVSADQRRLAGRNAEPNINARSSWPNSEKHVDQEDAIEAYHGVCQTNSKTEDW
GYLNEDGELGLAYQGLKQVARLLEAQLQAQSLEHEEEVEHLKAQLEALKEEMDKQQQTFC
QTLLLSPEAQVEFGVQQEISRLTNENLDLKELVEKLEKNERKLKKQLKIYMKKAQDLEAA
QALAQSERKRHELNRQVTVQRKEKDFQGMLEYHKEDEALLIRNLVTDLKPQMLSGTVPCL
PAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHNDDFEMTSFWLSNTCRLLHCL
KQYSGDEGFMTQNTAKQNEHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAEGVLQPMIVSA
MLENESIQGLSGVKPTGYRKRSSSMADGDNSYCLEAIIRQMNAFHTVMCDQGLDPEIILQ
VFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRGRNLHQSGAVQTMEPL
IQAAQLLQLKKKTQEDAEAICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQ
LQERNDPQQLLLDAKHMFPVLFPFNPSSLTMDSIHIPACLNLEFLNEV

Sequence length

1848

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Pathogenic Escherichia coli infection		Vasopressin regulates renal water homeostasis via Aquaporins

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cholestasis, progressive familial intrahepatic, 10	Pathogenic; Likely pathogenic	rs372682296, rs2144150424, rs2144383876, rs2144094082, rs776708126, rs1258766593, rs757745239, rs575729461	RCV002248410 RCV002248412 RCV002248413 RCV002248425 RCV002248427 RCV002248429 RCV004796305 RCV002248411 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital microvillous atrophy	Pathogenic; Likely pathogenic	rs370647174, rs1598870169, rs2144194879, rs1014035512, rs2144390075, rs1271807828, rs1264355256, rs2144150824, rs779188563, rs2144417768, rs2144048741, rs2144041940, rs760515993, rs1568025953, rs727505395 View all (17 more)	RCV005000526 RCV001332766 RCV001821871 RCV001733536 RCV001808853 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS	Pathogenic	rs2025722754, rs1369547753, rs751000651, rs2144244071	RCV002248419 RCV002248420 RCV002248423 RCV002248424	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYO5B-related disorder	Likely pathogenic	rs1555648414	RCV003419841	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (34)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIARRHEA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea with Microvillus Atrophy	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSENTERY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 1	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROVILLUS INCLUSION DISEASE	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 1	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (70)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	26650627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	22441677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	24413175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21276201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	18317468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	18317468, 21480485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	23561489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	24892806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	18724368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	24375397, 27532546, 28027573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	28027573, 31750554, 35129155, 36705120, 39182182, 40225142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	35129155, 35421597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis progressive familial intrahepatic 1	Cholelithiasis	Pubtator	31750554, 39182182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	ORPHANET_DG	27532546		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	30367658, 31750554		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29024942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29024942	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	26526116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	21199752, 21206382, 29218485, 34503561, 35421597	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea 3 Secretory Sodium Congenital	Congenital secretory diarrhea	Pubtator	21199752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysentery	Dysentery	Pubtator	31596022	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslexia	Dyslexia	BEFREE	24373531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	24373531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36662766	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27878761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	26490183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperchloremia	Hyperchloremia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	CTD_human_DG	18724368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30678306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	CTD_human_DG	18724368		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	31750554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	36705120, 40225142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	39182182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	25058030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	24413175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndromes	Malabsorption syndrome	Pubtator	24413175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	25058030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22134786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus Inclusion Disease	GENOMICS_ENGLAND_DG	18724368, 19006234, 29266534		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvillus inclusion disease	Microvillus Inclusion Disease	CLINVAR_DG	18724368		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvillus inclusion disease	Microvillus Inclusion Disease	UNIPROT_DG	18724368, 19006234, 20186687, 21206382, 24138727, 24892806		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	19006234, 20186687, 21199752, 21206382, 22441677, 24014347, 24138727, 24375397, 24413175, 24726755, 24892806, 25258405, 26392529, 26526116, 27229121 View all (6 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvillus inclusion disease	Microvillus Inclusion Disease	ORPHANET_DG	20186687		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvillus inclusion disease	Microvillus Inclusion Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvillus inclusion disease	Microvillus inclusion disease	Pubtator	21199752, 21206382, 23608388, 24138727, 24413175, 24892806, 25258405, 26526116, 26553929, 27229121, 28027573, 29218485, 34503561, 34815247, 35129155 View all (4 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microvillus inclusion disease	Microvillus Inclusion Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	21276201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	24892806		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYO5B-related progressive familial intrahepatic cholestasis	Intrahepatic Cholestasis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31452257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31682603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32511227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36522691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	26650627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	32511227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	32511227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive familial intrahepatic cholestasis type 1	Intrahepatic Cholestasis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	30367658, 31750554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	35129155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23561489		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23561489		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22134786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35814566	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26526116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	24014347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vipoma	Vipoma	Pubtator	28027573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MYO5B (myosin VB)