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	23001
Gene name	WD repeat and FYVE domain containing 3
Gene symbol	WDFY3
Synonyms (NCBI Gene)	ALFYBCHSMCPH18ZFYVE25
Chromosome	4
Chromosome location	4q21.23
Summary	This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1553924800	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1578183451	C>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

298

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051573	hsa-let-7e-5p	CLASH	23622248
MIRT050648	hsa-miR-19a-3p	CLASH	23622248
MIRT1489600	hsa-miR-1183	CLIP-seq
MIRT1489601	hsa-miR-1208	CLIP-seq
MIRT1489602	hsa-miR-1264	CLIP-seq
MIRT1489603	hsa-miR-1270	CLIP-seq
MIRT1489604	hsa-miR-1297	CLIP-seq
MIRT1489605	hsa-miR-140-3p	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT1489608	hsa-miR-181a	CLIP-seq
MIRT1489609	hsa-miR-181b	CLIP-seq
MIRT1489610	hsa-miR-181c	CLIP-seq
MIRT1489611	hsa-miR-181d	CLIP-seq
MIRT1489612	hsa-miR-200b	CLIP-seq
MIRT1489613	hsa-miR-200c	CLIP-seq
MIRT1489614	hsa-miR-2110	CLIP-seq
MIRT1489615	hsa-miR-216a	CLIP-seq
MIRT1489616	hsa-miR-26a	CLIP-seq
MIRT1489617	hsa-miR-26b	CLIP-seq
MIRT1489618	hsa-miR-3148	CLIP-seq
MIRT1489619	hsa-miR-3150a-3p	CLIP-seq
MIRT1489620	hsa-miR-3157-5p	CLIP-seq
MIRT1489621	hsa-miR-320e	CLIP-seq
MIRT1489622	hsa-miR-3617	CLIP-seq
MIRT1489623	hsa-miR-3675-5p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT1489625	hsa-miR-3927	CLIP-seq
MIRT1489626	hsa-miR-3929	CLIP-seq
MIRT1489627	hsa-miR-4252	CLIP-seq
MIRT1489628	hsa-miR-4260	CLIP-seq
MIRT1489629	hsa-miR-4269	CLIP-seq
MIRT1489630	hsa-miR-4272	CLIP-seq
MIRT1489631	hsa-miR-429	CLIP-seq
MIRT1489632	hsa-miR-432	CLIP-seq
MIRT1489633	hsa-miR-4419b	CLIP-seq
MIRT1489634	hsa-miR-4438	CLIP-seq
MIRT1489635	hsa-miR-4447	CLIP-seq
MIRT1489636	hsa-miR-4450	CLIP-seq
MIRT1489637	hsa-miR-4465	CLIP-seq
MIRT1489638	hsa-miR-4472	CLIP-seq
MIRT1489639	hsa-miR-4477a	CLIP-seq
MIRT1489640	hsa-miR-4478	CLIP-seq
MIRT1489641	hsa-miR-4514	CLIP-seq
MIRT1489642	hsa-miR-452	CLIP-seq
MIRT1489643	hsa-miR-4531	CLIP-seq
MIRT1489644	hsa-miR-4663	CLIP-seq
MIRT1489645	hsa-miR-4676-3p	CLIP-seq
MIRT1489646	hsa-miR-4690-3p	CLIP-seq
MIRT1489647	hsa-miR-4692	CLIP-seq
MIRT1489648	hsa-miR-4694-3p	CLIP-seq
MIRT1489649	hsa-miR-4723-5p	CLIP-seq
MIRT1489650	hsa-miR-4727-5p	CLIP-seq
MIRT1489651	hsa-miR-4742-5p	CLIP-seq
MIRT1489652	hsa-miR-4753-3p	CLIP-seq
MIRT1489653	hsa-miR-4768-5p	CLIP-seq
MIRT1489654	hsa-miR-4769-3p	CLIP-seq
MIRT1489655	hsa-miR-488	CLIP-seq
MIRT1489656	hsa-miR-511	CLIP-seq
MIRT1489657	hsa-miR-522	CLIP-seq
MIRT1489658	hsa-miR-548m	CLIP-seq
MIRT1489659	hsa-miR-620	CLIP-seq
MIRT1489660	hsa-miR-641	CLIP-seq
MIRT1489661	hsa-miR-9	CLIP-seq
MIRT1489662	hsa-miR-944	CLIP-seq
MIRT1489601	hsa-miR-1208	CLIP-seq
MIRT2147602	hsa-miR-1226	CLIP-seq
MIRT2147603	hsa-miR-1229	CLIP-seq
MIRT2147604	hsa-miR-1267	CLIP-seq
MIRT2147605	hsa-miR-1279	CLIP-seq
MIRT2147606	hsa-miR-1302	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT1489615	hsa-miR-216a	CLIP-seq
MIRT2147607	hsa-miR-3074-5p	CLIP-seq
MIRT1489621	hsa-miR-320e	CLIP-seq
MIRT2147608	hsa-miR-3591-5p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT2147609	hsa-miR-3914	CLIP-seq
MIRT2147610	hsa-miR-3918	CLIP-seq
MIRT1489625	hsa-miR-3927	CLIP-seq
MIRT2147611	hsa-miR-4268	CLIP-seq
MIRT2147612	hsa-miR-4270	CLIP-seq
MIRT2147613	hsa-miR-4297	CLIP-seq
MIRT2147614	hsa-miR-4298	CLIP-seq
MIRT1489632	hsa-miR-432	CLIP-seq
MIRT2147615	hsa-miR-4422	CLIP-seq
MIRT2147616	hsa-miR-4426	CLIP-seq
MIRT2147617	hsa-miR-4441	CLIP-seq
MIRT2147618	hsa-miR-4446-3p	CLIP-seq
MIRT2147619	hsa-miR-4448	CLIP-seq
MIRT2147620	hsa-miR-4512	CLIP-seq
MIRT1489642	hsa-miR-452	CLIP-seq
MIRT2147621	hsa-miR-4647	CLIP-seq
MIRT2147622	hsa-miR-4662b	CLIP-seq
MIRT2147623	hsa-miR-4675	CLIP-seq
MIRT1489645	hsa-miR-4676-3p	CLIP-seq
MIRT2147624	hsa-miR-4685-5p	CLIP-seq
MIRT2147625	hsa-miR-4687-3p	CLIP-seq
MIRT1489648	hsa-miR-4694-3p	CLIP-seq
MIRT2147626	hsa-miR-4699-5p	CLIP-seq
MIRT2147627	hsa-miR-4709-3p	CLIP-seq
MIRT2147628	hsa-miR-4733-3p	CLIP-seq
MIRT2147629	hsa-miR-4741	CLIP-seq
MIRT2147630	hsa-miR-4744	CLIP-seq
MIRT1489652	hsa-miR-4753-3p	CLIP-seq
MIRT2147631	hsa-miR-4768-3p	CLIP-seq
MIRT1489653	hsa-miR-4768-5p	CLIP-seq
MIRT2147632	hsa-miR-4778-3p	CLIP-seq
MIRT2147633	hsa-miR-4793-3p	CLIP-seq
MIRT2147634	hsa-miR-486-5p	CLIP-seq
MIRT1489657	hsa-miR-522	CLIP-seq
MIRT2147635	hsa-miR-548c-3p	CLIP-seq
MIRT1489658	hsa-miR-548m	CLIP-seq
MIRT2147636	hsa-miR-590-3p	CLIP-seq
MIRT2147637	hsa-miR-653	CLIP-seq
MIRT2147638	hsa-miR-891b	CLIP-seq
MIRT2147602	hsa-miR-1226	CLIP-seq
MIRT2147605	hsa-miR-1279	CLIP-seq
MIRT2367949	hsa-miR-1290	CLIP-seq
MIRT2147606	hsa-miR-1302	CLIP-seq
MIRT2367950	hsa-miR-1305	CLIP-seq
MIRT2367951	hsa-miR-139-5p	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT2367952	hsa-miR-2682	CLIP-seq
MIRT2367953	hsa-miR-30a	CLIP-seq
MIRT2367954	hsa-miR-30b	CLIP-seq
MIRT2367955	hsa-miR-30c	CLIP-seq
MIRT2367956	hsa-miR-30d	CLIP-seq
MIRT2367957	hsa-miR-30e	CLIP-seq
MIRT2367958	hsa-miR-3167	CLIP-seq
MIRT2367959	hsa-miR-3179	CLIP-seq
MIRT2367960	hsa-miR-3202	CLIP-seq
MIRT1489621	hsa-miR-320e	CLIP-seq
MIRT2367961	hsa-miR-3618	CLIP-seq
MIRT1489623	hsa-miR-3675-5p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT2147609	hsa-miR-3914	CLIP-seq
MIRT2367962	hsa-miR-3936	CLIP-seq
MIRT1489627	hsa-miR-4252	CLIP-seq
MIRT2147611	hsa-miR-4268	CLIP-seq
MIRT2367963	hsa-miR-4274	CLIP-seq
MIRT2147613	hsa-miR-4297	CLIP-seq
MIRT2147614	hsa-miR-4298	CLIP-seq
MIRT2147615	hsa-miR-4422	CLIP-seq
MIRT2367964	hsa-miR-4424	CLIP-seq
MIRT1489634	hsa-miR-4438	CLIP-seq
MIRT2147619	hsa-miR-4448	CLIP-seq
MIRT2367965	hsa-miR-448	CLIP-seq
MIRT2367966	hsa-miR-449c	CLIP-seq
MIRT1489641	hsa-miR-4514	CLIP-seq
MIRT1489642	hsa-miR-452	CLIP-seq
MIRT2367967	hsa-miR-455-3p	CLIP-seq
MIRT2367968	hsa-miR-455-5p	CLIP-seq
MIRT1489645	hsa-miR-4676-3p	CLIP-seq
MIRT1489647	hsa-miR-4692	CLIP-seq
MIRT1489648	hsa-miR-4694-3p	CLIP-seq
MIRT2367969	hsa-miR-4747-5p	CLIP-seq
MIRT2147631	hsa-miR-4768-3p	CLIP-seq
MIRT2367970	hsa-miR-4789-5p	CLIP-seq
MIRT2367971	hsa-miR-490-5p	CLIP-seq
MIRT2367972	hsa-miR-5095	CLIP-seq
MIRT2367973	hsa-miR-518a-5p	CLIP-seq
MIRT2367974	hsa-miR-527	CLIP-seq
MIRT2367975	hsa-miR-532-5p	CLIP-seq
MIRT2367976	hsa-miR-591	CLIP-seq
MIRT2367977	hsa-miR-876-5p	CLIP-seq
MIRT2396921	hsa-miR-140-5p	CLIP-seq
MIRT2367952	hsa-miR-2682	CLIP-seq
MIRT2396922	hsa-miR-299-5p	CLIP-seq
MIRT2396923	hsa-miR-3065-5p	CLIP-seq
MIRT2367953	hsa-miR-30a	CLIP-seq
MIRT2367954	hsa-miR-30b	CLIP-seq
MIRT2367955	hsa-miR-30c	CLIP-seq
MIRT2367956	hsa-miR-30d	CLIP-seq
MIRT2367957	hsa-miR-30e	CLIP-seq
MIRT2396924	hsa-miR-3124-3p	CLIP-seq
MIRT2396925	hsa-miR-3545-5p	CLIP-seq
MIRT2396926	hsa-miR-3611	CLIP-seq
MIRT2396927	hsa-miR-3616-5p	CLIP-seq
MIRT2396928	hsa-miR-3647-5p	CLIP-seq
MIRT1489623	hsa-miR-3675-5p	CLIP-seq
MIRT1489627	hsa-miR-4252	CLIP-seq
MIRT2396929	hsa-miR-4328	CLIP-seq
MIRT2367964	hsa-miR-4424	CLIP-seq
MIRT1489634	hsa-miR-4438	CLIP-seq
MIRT2396930	hsa-miR-4460	CLIP-seq
MIRT2367966	hsa-miR-449c	CLIP-seq
MIRT1489641	hsa-miR-4514	CLIP-seq
MIRT2396931	hsa-miR-4670-3p	CLIP-seq
MIRT1489647	hsa-miR-4692	CLIP-seq
MIRT2396932	hsa-miR-4727-3p	CLIP-seq
MIRT2367970	hsa-miR-4789-5p	CLIP-seq
MIRT2367972	hsa-miR-5095	CLIP-seq
MIRT2396933	hsa-miR-573	CLIP-seq
MIRT2434685	hsa-miR-129-5p	CLIP-seq
MIRT2434686	hsa-miR-300	CLIP-seq
MIRT2396923	hsa-miR-3065-5p	CLIP-seq
MIRT2434687	hsa-miR-381	CLIP-seq
MIRT2434688	hsa-miR-3919	CLIP-seq
MIRT2396929	hsa-miR-4328	CLIP-seq
MIRT2434689	hsa-miR-450b-5p	CLIP-seq
MIRT2434690	hsa-miR-4666-3p	CLIP-seq
MIRT2434691	hsa-miR-4711-5p	CLIP-seq
MIRT2434692	hsa-miR-4756-3p	CLIP-seq
MIRT2434693	hsa-miR-507	CLIP-seq
MIRT2434694	hsa-miR-557	CLIP-seq
MIRT2434695	hsa-miR-561	CLIP-seq
MIRT2661476	hsa-miR-1207-3p	CLIP-seq
MIRT2147605	hsa-miR-1279	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT2661477	hsa-miR-188-5p	CLIP-seq
MIRT2661478	hsa-miR-204	CLIP-seq
MIRT2661479	hsa-miR-211	CLIP-seq
MIRT2661480	hsa-miR-218	CLIP-seq
MIRT2661481	hsa-miR-3152-3p	CLIP-seq
MIRT2661482	hsa-miR-3622a-3p	CLIP-seq
MIRT2661483	hsa-miR-3622b-3p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT2147609	hsa-miR-3914	CLIP-seq
MIRT2661484	hsa-miR-4263	CLIP-seq
MIRT2147611	hsa-miR-4268	CLIP-seq
MIRT2147612	hsa-miR-4270	CLIP-seq
MIRT1489630	hsa-miR-4272	CLIP-seq
MIRT2396929	hsa-miR-4328	CLIP-seq
MIRT2147617	hsa-miR-4441	CLIP-seq
MIRT2147619	hsa-miR-4448	CLIP-seq
MIRT2661485	hsa-miR-4452	CLIP-seq
MIRT2661486	hsa-miR-4659a-3p	CLIP-seq
MIRT2661487	hsa-miR-4659b-3p	CLIP-seq
MIRT2147632	hsa-miR-4778-3p	CLIP-seq
MIRT2661488	hsa-miR-4799-5p	CLIP-seq
MIRT2147635	hsa-miR-548c-3p	CLIP-seq
MIRT2661489	hsa-miR-576-5p	CLIP-seq
MIRT2661490	hsa-miR-578	CLIP-seq
MIRT2661491	hsa-miR-581	CLIP-seq
MIRT2147636	hsa-miR-590-3p	CLIP-seq
MIRT2661492	hsa-miR-628-5p	CLIP-seq
MIRT2661493	hsa-miR-642b	CLIP-seq
MIRT2661476	hsa-miR-1207-3p	CLIP-seq
MIRT2147604	hsa-miR-1267	CLIP-seq
MIRT2147605	hsa-miR-1279	CLIP-seq
MIRT2695159	hsa-miR-1283	CLIP-seq
MIRT2695160	hsa-miR-1324	CLIP-seq
MIRT2695161	hsa-miR-141	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT2661477	hsa-miR-188-5p	CLIP-seq
MIRT2695162	hsa-miR-200a	CLIP-seq
MIRT2661478	hsa-miR-204	CLIP-seq
MIRT2661479	hsa-miR-211	CLIP-seq
MIRT2695163	hsa-miR-221	CLIP-seq
MIRT2695164	hsa-miR-222	CLIP-seq
MIRT2695165	hsa-miR-2276	CLIP-seq
MIRT2661481	hsa-miR-3152-3p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT2147609	hsa-miR-3914	CLIP-seq
MIRT2695166	hsa-miR-3922-5p	CLIP-seq
MIRT2661484	hsa-miR-4263	CLIP-seq
MIRT2147611	hsa-miR-4268	CLIP-seq
MIRT2147612	hsa-miR-4270	CLIP-seq
MIRT1489630	hsa-miR-4272	CLIP-seq
MIRT2695167	hsa-miR-4310	CLIP-seq
MIRT2147617	hsa-miR-4441	CLIP-seq
MIRT2147619	hsa-miR-4448	CLIP-seq
MIRT2661485	hsa-miR-4452	CLIP-seq
MIRT2695168	hsa-miR-4640-5p	CLIP-seq
MIRT2661486	hsa-miR-4659a-3p	CLIP-seq
MIRT2661487	hsa-miR-4659b-3p	CLIP-seq
MIRT2695169	hsa-miR-4688	CLIP-seq
MIRT2695170	hsa-miR-4708-3p	CLIP-seq
MIRT2695171	hsa-miR-4726-5p	CLIP-seq
MIRT2695172	hsa-miR-4772-3p	CLIP-seq
MIRT2147632	hsa-miR-4778-3p	CLIP-seq
MIRT2661488	hsa-miR-4799-5p	CLIP-seq
MIRT2695173	hsa-miR-518d-5p	CLIP-seq
MIRT2695174	hsa-miR-519b-5p	CLIP-seq
MIRT2695175	hsa-miR-519c-5p	CLIP-seq
MIRT2695176	hsa-miR-520c-5p	CLIP-seq
MIRT2695177	hsa-miR-526a	CLIP-seq
MIRT2695178	hsa-miR-544	CLIP-seq
MIRT2695179	hsa-miR-548ac	CLIP-seq
MIRT2695180	hsa-miR-548ae	CLIP-seq
MIRT2695181	hsa-miR-548aj	CLIP-seq
MIRT2695182	hsa-miR-548am	CLIP-seq
MIRT2147635	hsa-miR-548c-3p	CLIP-seq
MIRT2695183	hsa-miR-548d-3p	CLIP-seq
MIRT2695184	hsa-miR-548v	CLIP-seq
MIRT2695185	hsa-miR-548x	CLIP-seq
MIRT2695186	hsa-miR-548z	CLIP-seq
MIRT2661489	hsa-miR-576-5p	CLIP-seq
MIRT2147636	hsa-miR-590-3p	CLIP-seq
MIRT2661492	hsa-miR-628-5p	CLIP-seq
MIRT2661493	hsa-miR-642b	CLIP-seq
MIRT2147637	hsa-miR-653	CLIP-seq
MIRT2695187	hsa-miR-935	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IDA	15292400
GO:0005515	Function	Protein binding	IPI	18083104, 20168092, 20417604, 22458338, 24668264, 25416956, 25814554, 32814053
GO:0005545	Function	1-phosphatidylinositol binding	IDA	15292400
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	15292400, 20417604
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	15292400, 20168092
GO:0005737	Component	Cytoplasm	IEA
GO:0005776	Component	Autophagosome	IMP	20168092
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006914	Process	Autophagy	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IDA	15292400
GO:0016020	Component	Membrane	IEA
GO:0016234	Component	Inclusion body	IDA	20168092
GO:0016236	Process	Macroautophagy	IEA
GO:0016605	Component	PML body	IDA	20168092
GO:0016605	Component	PML body	IEA
GO:0030424	Component	Axon	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0034274	Component	Atg12-Atg5-Atg16 complex	IDA	20417604
GO:0035973	Process	Aggrephagy	IBA
GO:0035973	Process	Aggrephagy	IMP	20168092, 20417604
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
617485	20751	ENSG00000163625

Q8IZQ1

Protein name

WD repeat and FYVE domain-containing protein 3 (Autophagy-linked FYVE protein) (Alfy)

Protein function

Required for selective macroautophagy (aggrephagy). Acts as an adapter protein by linking specific proteins destined for degradation to the core autophagic machinery members, such as the ATG5-ATG12-ATG16L E3-like ligase, SQSTM1 and LC3 (PubMed:2

PDB

3WIM , 6W9N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14844	PH_BEACH	2585 → 2656	PH domain associated with Beige/BEACH	Domain
PF02138	Beach	2696 → 2976	Beige/BEACH domain	Family
PF01363	FYVE	3449 → 3515	FYVE zinc finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in osteoclast and their mononuclear precursors (at protein level). {ECO:0000269|PubMed:20971078}.

Sequence

MNMVKRIMGRPRQEECSPQDNALGLMHLRRLFTELCHPPRHMTQKEQEEKLYMMLPVFNR
VFGNAPPNTMTEKFSDLLQFTTQVSRLMVTEIRRRASNKSTEAASRAIVQFLEINQSEEA
SRGWMLLTTINLLASSGQKTVDCMTTMSVPSTLVKCLYLFFDLPHVPEAVGGAQNELPLA
ERRGLLQKVFVQILVKLCSFVSPAEELAQKDDLQLLFSAITSWCPPYNLPWRKSAGEVLM
TISRHGLSVNVVKYIHEKECLSTCVQNMQQSDDLSPLEIVEMFAGLSCFLKDSSDVSQTL
LDDFRIWQGYNFLCDLLLRLEQAKEAESKDALKDLVNLITSLTTYGVSELKPAGITTGAP
FLLPGFAVPQPAGKGHSVRNVQAFAVLQNAFLKAKTSFLAQIILDAITNIYMADNANYFI
LESQHTLSQFAEKISKLPEVQNKYFEMLEFVVFSLNYIPCKELISVSILLKSSSSYHCSI
IAMKTLLKFTRHDYIFKDVFREVGLLEVMVNLLHKYAALLKDPTQALNEQGDSRNNSSVE
DQKHLALLVMETLTVLLQGSNTNAGIFREFGGARCAHNIVKYPQCRQHALMTIQQLVLSP
NGDDDMGTLLGLMHSAPPTELQLKTDILRALLSVLRESHRSRTVFRKVGGFVYITSLLVA
MERSLSCPPKNGWEKVNQNQVFELLHTVFCTLTAAMRYEPANSHFFKTEIQYEKLADAVR
FLGCFSDLRKISAMNVFPSNTQPFQRLLEEDVISIESVSPTLRHCSKLFIYLYKVATDSF
DSRAEQIPPCLTSESSLPSPWGTPALSRKRHAYHSVSTPPVYPPKNVADLKLHVTTSSLQ
SSDAVIIHPGAMLAMLDLLASVGSVTQPEHALDLQLAVANILQSLVHTERNQQVMCEAGL
HARLLQRCSAALADEDHSLHPPLQRMFERLASQALEPMVLREFLRLASPLNCGAWDKKLL
KQYRVHKPSSLSYEPEMRSSMITSLEGLGTDNVFSLHEDNHYRISKSLVKSAEGSTVPLT
RVKCLVSMTTPHDIRLHGSSVTPAFVEFDTSLEGFGCLFLPSLAPHNAPTNNTVTTGLID
GAVVSGIGSGERFFPPPSGLSYSSWFCIEHFSSPPNNHPVRLLTVVRRANSSEQHYVCLA
IVLSAKDRSLIVSTKEELLQNYVDDFSEESSFYEILPCCARFRCGELIIEGQWHHLVLVM
SKGMLKNSTAALYIDGQLVNTVKLHYVHSTPGGSGSANPPVVSTVYAYIGTPPAQRQIAS
LVWRLGPTHFLEEVLPSSNVTTIYELGPNYVGSFQAVCMPCKDAKSEGVVPSPVSLVPEE
KVSFGLYALSVSSLTVARIRKVYNKLDSKAIAKQLGISSHENATPVKLIHNSAGHLNGSA
RTIGAALIGYLGVRTFVPKPVATTLQYVGGAAAILGLVAMASDVEGLYAAVKALVCVVKS
NPLASKEMERIKGYQLLAMLLKKKRSLLNSHILHLTFSLVGTVDSGHETSIIPNSTAFQD
LLCDFEVWLHAPYELHLSLFEHFIELLTESSEASKNAKLMREFQLIPKLLLTLRDMSLSQ
PTIAAISNVLSFLLQGFPSSNDLLRFGQFISSTLPTFAVCEKFVVMEINNEEKLDTGTEE
EFGGLVSANLILLRNRLLDILLKLIYTSKEKTSINLQACEELVKTLGFDWIMMFMEEHLH
STTVTAAMRILVVLLSNQSILIKFKEGLSGGGWLEQTDSVLTNKIGTVLGFNVGRSAGGR
STVREINRDACHFPGFPVLQSFLPKHTNVPALYFLLMALFLQQPVSELPENLQVSVPVIS
CRSKQGCQFDLDSIWTFIFGVPASSGTVVSSIHNVCTEAVFLLLGMLRSMLTSPWQSEEE
GSWLREYPVTLMQFFRYLYHNVPDLASMWMSPDFLCALAATVFPFNIRPYSEMVTDLDDE
VGSPAEEFKAFAADTGMNRSQSEYCNVGTKTYLTNHPAKKFVFDFMRVLIIDNLCLTPAS
KQTPLIDLLLEASPERSTRTQQKEFQTYILDSVMDHLLAADVLLGEDASLPITSGGSYQV
LVNNVFYFTQRVVDKLWQGMFNKESKLLIDFIIQLIAQSKRRSQGLSLDAVYHCLNRTIL
YQFSRAHKTVPQQVALLDSLRVLTVNRNLILGPGNHDQEFISCLAHCLINLHVGSNVDGF
GLEAEARMTTWHIMIPSDIEPDGSYSQDISEGRQLLIKAVNRVWTELIHSKKQVLEELFK
VTLPVNERGHVDIATARPLIEEAALKCWQNHLAHEKKCISRGEALAPTTQSKLSRVSSGF
GLSKLTGSRRNRKESGLNKHSLSTQEISQWMFTHIAVVRDLVDTQYKEYQERQQNALKYV
TEEWCQIECELLRERGLWGPPIGSHLDKWMLEMTEGPCRMRKKMVRNDMFYNHYPYVPET
EQETNVASEIPSKQPETPDDIPQKKPARYRRAVSYDSKEYYMRLASGNPAIVQDAIVESS
EGEAAQQEPEHGEDTIAKVKGLVKPPLKRSRSAPDGGDEENQEQLQDQIAEGSSIEEEEK
TDNATLLRLLEEGEKIQHMYRCARVQGLDTSEGLLLFGKEHFYVIDGFTMTATREIRDIE
TLPPNMHEPIIPRGARQGPSQLKRTCSIFAYEDIKEVHKRRYLLQPIAVEVFSGDGRNYL
LAFQKGIRNKVYQRFLAVVPSLTDSSESVSGQRPNTSVEQGSGLLSTLVGEKSVTQRWER
GEISNFQYLMHLNTLAGRSYNDLMQYPVFPWILADYDSEEVDLTNPKTFRNLAKPMGAQT
DERLAQYKKRYKDWEDPNGETPAYHYGTHYSSAMIVASYLVRMEPFTQIFLRLQGGHFDL
ADRMFHSVREAWYSASKHNMADVKELIPEFFYLPEFLFNSNNFDLGCKQNGTKLGDVILP
PWAKGDPREFIRVHREALECDYVSAHLHEWIDLIFGYKQQGPAAVEAVNVFHHLFYEGQV
DIYNINDPLKETATIGFINNFGQIPKQLFKKPHPPKRVRSRLNGDNAGISVLPGSTSDKI
FFHHLDNLRPSLTPVKELKEPVGQIVCTDKGILAVEQNKVLIPPTWNKTFAWGYADLSCR
LGTYESDKAMTVYECLSEWGQILCAICPNPKLVITGGTSTVVCVWEMGTSKEKAKTVTLK
QALLGHTDTVTCATASLAYHIIVSGSRDRTCIIWDLNKLSFLTQLRGHRAPVSALCINEL
TGDIVSCAGTYIHVWSINGNPIVSVNTFTGRSQQIICCCMSEMNEWDTQNVIVTGHSDGV
VRFWRMEFLQVPETPAPEPAEVLEMQEDCPEAQIGQEAQDEDSSDSEADEQSISQDPKDT
PSQPSSTSHRPRAASCRATAAWCTDSGSDDSRRWSDQLSLDEKDGFIFVNYSEGQTRAHL
QGPLSHPHPNPIEVRNYSRLKPGYRWERQLVFRSKLTMHTAFDRKDNAHPAEVTALGISK
DHSRILVGDSRGRVFSWSVSDQPGRSAADHWVKDEGGDSCSGCSVRFSLTERRHHCRNCG
QLFCQKCSRFQSEIKRLKISSPVRVCQNCYYNLQHERGSEDGPRNC

Sequence length

3526

Interactions

View interactions

	KEGG
	Autophagy - animal

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs1749810683	RCV001291370	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 1	Likely pathogenic	rs989023195	RCV002289493	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Likely pathogenic	rs2149390162	RCV001526633	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 18, primary, autosomal dominant	Likely pathogenic; Pathogenic	rs750764507, rs2149390162, rs2149494307, rs866536893, rs973920709, rs1733238245, rs2530911498, rs2532391377, rs2530905739, rs2535534725, rs2531666315, rs2531666671, rs1553924800, rs1750979319, rs1753844425, rs1754957238 View all (1 more)	RCV001330590 RCV003151864 RCV001527653 RCV001814808 RCV002289460 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2149201245, rs2149066197, rs767465603, rs2149729461, rs2149104388, rs2148866261, rs2148797710, rs2148797581, rs878853167, rs752218424, rs1353660689	RCV001785252 RCV001785262 RCV001785278 RCV001785282 RCV001785290 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2533590867, rs2533592177, rs2533709504	RCV002471615 RCV004595120 RCV004595274	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer	Likely pathogenic	rs1578183451	RCV000987454	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia/tracheoesophageal fistula	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WDFY3-related disorder	Likely benign; Benign; Uncertain significance; not provided; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	29021535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28449847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27824329	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	Pubtator	27824329, 30564305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30054502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	30959550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	30428088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23045723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	30428088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	30972633, 32536038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32536038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30054502, 31327001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29021535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	29021535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29021535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32536038	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	31327001		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
malignant neoplasm of lateral wall of oropharynx	Malignant Neoplasm Of Lateral Wall Of Oropharynx	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of posterior wall of oropharynx	Malignant tumor of posterior wall of oropharynx	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31327001		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT	Microcephaly	UNIPROT_DG	27008544		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT	Microcephaly	GENOMICS_ENGLAND_DG	27008544, 28191889		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	33083450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31327001		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific syndromic intellectual disability	Syndromic Mental Retardation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Perimembranous ventricular septal defect	Ventricular septal defect	BEFREE	30428088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	31565070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of lateral wall of oropharynx	Malignant Neoplasm Of Lateral Wall Of Oropharynx	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32401758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	30428088		★★★★★ ★☆☆☆☆ Found in Text Mining only

WDFY3 (WD repeat and FYVE domain containing 3)