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	9765
Gene name	Zinc finger FYVE-type containing 16
Gene symbol	ZFYVE16
Synonyms (NCBI Gene)	PPP1R69
Chromosome	5
Chromosome location	5q14.1
Summary	This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1554047435	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant

136

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030907	hsa-miR-21-5p	Microarray	18591254
MIRT049461	hsa-miR-92a-3p	CLASH	23622248
MIRT046581	hsa-miR-222-3p	CLASH	23622248
MIRT044303	hsa-miR-106b-5p	CLASH	23622248
MIRT039852	hsa-miR-615-3p	CLASH	23622248
MIRT1512255	hsa-miR-1256	CLIP-seq
MIRT1512256	hsa-miR-1287	CLIP-seq
MIRT1512257	hsa-miR-137	CLIP-seq
MIRT1512258	hsa-miR-1538	CLIP-seq
MIRT1512259	hsa-miR-221	CLIP-seq
MIRT1512260	hsa-miR-222	CLIP-seq
MIRT1512261	hsa-miR-3126-3p	CLIP-seq
MIRT1512262	hsa-miR-3135b	CLIP-seq
MIRT1512263	hsa-miR-3145-3p	CLIP-seq
MIRT1512264	hsa-miR-3155	CLIP-seq
MIRT1512265	hsa-miR-3155b	CLIP-seq
MIRT1512266	hsa-miR-3176	CLIP-seq
MIRT1512267	hsa-miR-3591-5p	CLIP-seq
MIRT1512268	hsa-miR-3688-5p	CLIP-seq
MIRT1512269	hsa-miR-3922-3p	CLIP-seq
MIRT1512270	hsa-miR-4255	CLIP-seq
MIRT1512271	hsa-miR-4279	CLIP-seq
MIRT1512272	hsa-miR-4473	CLIP-seq
MIRT1512273	hsa-miR-4474-3p	CLIP-seq
MIRT1512274	hsa-miR-4653-3p	CLIP-seq
MIRT1512275	hsa-miR-4671-3p	CLIP-seq
MIRT1512276	hsa-miR-4691-5p	CLIP-seq
MIRT1512277	hsa-miR-4729	CLIP-seq
MIRT1512278	hsa-miR-4745-3p	CLIP-seq
MIRT1512279	hsa-miR-484	CLIP-seq
MIRT1512280	hsa-miR-511	CLIP-seq
MIRT1512281	hsa-miR-512-3p	CLIP-seq
MIRT1512282	hsa-miR-520f	CLIP-seq
MIRT1512283	hsa-miR-548v	CLIP-seq
MIRT1512284	hsa-miR-579	CLIP-seq
MIRT1512285	hsa-miR-9	CLIP-seq
MIRT1555756	hsa-miR-889	CLIP-seq
MIRT2154276	hsa-miR-1227	CLIP-seq
MIRT2154277	hsa-miR-1283	CLIP-seq
MIRT2154278	hsa-miR-1305	CLIP-seq
MIRT2154279	hsa-miR-2113	CLIP-seq
MIRT2154280	hsa-miR-219-2-3p	CLIP-seq
MIRT2154281	hsa-miR-3140-5p	CLIP-seq
MIRT1512263	hsa-miR-3145-3p	CLIP-seq
MIRT2154282	hsa-miR-3618	CLIP-seq
MIRT2154283	hsa-miR-421	CLIP-seq
MIRT2154284	hsa-miR-4252	CLIP-seq
MIRT2154285	hsa-miR-4709-5p	CLIP-seq
MIRT2154286	hsa-miR-494	CLIP-seq
MIRT2154287	hsa-miR-520d-5p	CLIP-seq
MIRT2154288	hsa-miR-524-5p	CLIP-seq
MIRT2154289	hsa-miR-548a-3p	CLIP-seq
MIRT2154290	hsa-miR-548e	CLIP-seq
MIRT2154291	hsa-miR-548f	CLIP-seq
MIRT2154292	hsa-miR-548p	CLIP-seq
MIRT2154293	hsa-miR-582-3p	CLIP-seq
MIRT2154294	hsa-miR-654-3p	CLIP-seq
MIRT2154295	hsa-miR-873	CLIP-seq
MIRT2154296	hsa-miR-934	CLIP-seq
MIRT2154297	hsa-miR-944	CLIP-seq
MIRT2374473	hsa-miR-1200	CLIP-seq
MIRT2374474	hsa-miR-1276	CLIP-seq
MIRT2374475	hsa-miR-1324	CLIP-seq
MIRT1512258	hsa-miR-1538	CLIP-seq
MIRT2374476	hsa-miR-21	CLIP-seq
MIRT2374477	hsa-miR-3074-5p	CLIP-seq
MIRT1512261	hsa-miR-3126-3p	CLIP-seq
MIRT1512263	hsa-miR-3145-3p	CLIP-seq
MIRT1512266	hsa-miR-3176	CLIP-seq
MIRT2374478	hsa-miR-3180-5p	CLIP-seq
MIRT1512267	hsa-miR-3591-5p	CLIP-seq
MIRT2374479	hsa-miR-3613-3p	CLIP-seq
MIRT2374480	hsa-miR-3672	CLIP-seq
MIRT1512269	hsa-miR-3922-3p	CLIP-seq
MIRT2374481	hsa-miR-3929	CLIP-seq
MIRT2374482	hsa-miR-4311	CLIP-seq
MIRT2374483	hsa-miR-4324	CLIP-seq
MIRT2374484	hsa-miR-4330	CLIP-seq
MIRT2374485	hsa-miR-4419b	CLIP-seq
MIRT2374486	hsa-miR-4424	CLIP-seq
MIRT2374487	hsa-miR-4453	CLIP-seq
MIRT2374488	hsa-miR-4478	CLIP-seq
MIRT2374489	hsa-miR-4538	CLIP-seq
MIRT2374490	hsa-miR-4639-3p	CLIP-seq
MIRT2374491	hsa-miR-4682	CLIP-seq
MIRT2374492	hsa-miR-4704-3p	CLIP-seq
MIRT2374493	hsa-miR-4719	CLIP-seq
MIRT2374494	hsa-miR-4722-3p	CLIP-seq
MIRT2374495	hsa-miR-4744	CLIP-seq
MIRT1512278	hsa-miR-4745-3p	CLIP-seq
MIRT2374496	hsa-miR-4786-5p	CLIP-seq
MIRT2374497	hsa-miR-4795-5p	CLIP-seq
MIRT2374498	hsa-miR-495	CLIP-seq
MIRT1512280	hsa-miR-511	CLIP-seq
MIRT2374499	hsa-miR-513b	CLIP-seq
MIRT2374500	hsa-miR-520a-5p	CLIP-seq
MIRT2154287	hsa-miR-520d-5p	CLIP-seq
MIRT2154288	hsa-miR-524-5p	CLIP-seq
MIRT2374501	hsa-miR-525-5p	CLIP-seq
MIRT2374502	hsa-miR-544b	CLIP-seq
MIRT2374503	hsa-miR-548c-3p	CLIP-seq
MIRT2374504	hsa-miR-583	CLIP-seq
MIRT2374505	hsa-miR-590-5p	CLIP-seq
MIRT2374506	hsa-miR-607	CLIP-seq
MIRT2374507	hsa-miR-622	CLIP-seq
MIRT2374508	hsa-miR-668	CLIP-seq
MIRT2374509	hsa-miR-769-5p	CLIP-seq
MIRT1512285	hsa-miR-9	CLIP-seq
MIRT2374474	hsa-miR-1276	CLIP-seq
MIRT2667208	hsa-miR-129-5p	CLIP-seq
MIRT2667209	hsa-miR-194	CLIP-seq
MIRT2667210	hsa-miR-3125	CLIP-seq
MIRT2667211	hsa-miR-3159	CLIP-seq
MIRT2667212	hsa-miR-338-5p	CLIP-seq
MIRT2667213	hsa-miR-3607-3p	CLIP-seq
MIRT2667214	hsa-miR-3616-5p	CLIP-seq
MIRT2667215	hsa-miR-3647-5p	CLIP-seq
MIRT2667216	hsa-miR-3671	CLIP-seq
MIRT2667217	hsa-miR-3686	CLIP-seq
MIRT2667218	hsa-miR-376c	CLIP-seq
MIRT2667219	hsa-miR-3916	CLIP-seq
MIRT2667220	hsa-miR-4286	CLIP-seq
MIRT2374482	hsa-miR-4311	CLIP-seq
MIRT2667221	hsa-miR-4313	CLIP-seq
MIRT2667222	hsa-miR-4700-3p	CLIP-seq
MIRT2667223	hsa-miR-4759	CLIP-seq
MIRT2667224	hsa-miR-573	CLIP-seq
MIRT2374504	hsa-miR-583	CLIP-seq
MIRT2374506	hsa-miR-607	CLIP-seq
MIRT2374474	hsa-miR-1276	CLIP-seq
MIRT2667208	hsa-miR-129-5p	CLIP-seq
MIRT2667214	hsa-miR-3616-5p	CLIP-seq
MIRT2667215	hsa-miR-3647-5p	CLIP-seq
MIRT2374482	hsa-miR-4311	CLIP-seq
MIRT2667224	hsa-miR-573	CLIP-seq
MIRT2374504	hsa-miR-583	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	14613930, 15231748, 15657082, 28514442, 29568061, 33961781
GO:0005545	Function	1-phosphatidylinositol binding	IDA	11546807
GO:0005545	Function	1-phosphatidylinositol binding	IEA
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	11433298
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	11546807
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006622	Process	Protein targeting to lysosome	IBA
GO:0006622	Process	Protein targeting to lysosome	IMP	11546807
GO:0007165	Process	Signal transduction	NAS	11546807
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016050	Process	Vesicle organization	NAS	11546807
GO:0016197	Process	Endosomal transport	IBA
GO:0016197	Process	Endosomal transport	IMP	11546807
GO:0030100	Process	Regulation of endocytosis	TAS	11546807
GO:0031901	Component	Early endosome membrane	IBA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
608880	20756	ENSG00000039319

Q7Z3T8

Protein name

Zinc finger FYVE domain-containing protein 16 (Endofin) (Endosome-associated FYVE domain protein)

Protein function

May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes.

PDB

3T7L , 5MK0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01363	FYVE	742 → 806	FYVE zinc finger	Domain
PF11979	DUF3480	1167 → 1515	Domain of unknown function (DUF3480)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, placenta and lung. Expressed at intermediate level in heart, brain, skeletal muscle, spleen and liver. Weakly expressed in colon, thymus and peripheral blood lymphocytes. {ECO:0000269|PubMe

Sequence

MDSYFKAAVSDLDKLLDDFEQNPDEQDYLQDVQNAYDSNHCSVSSELASSQRTSLLPKDQ
ECVNSCASSETSYGTNESSLNEKTLKGLTSIQNEKNVTGLDLLSSVDGGTSDEIQPLYMG
RCSKPICDLISDMGNLVHATNSEEDIKKLLPDDFKSNADSLIGLDLSSVSDTPCVSSTDH
DSDTVREQQNDISSELQNREIGGIKELGIKVDTTLSDSYNYSGTENLKDKKIFNQLESIV
DFNMSSALTRQSSKMFHAKDKLQHKSQPCGLLKDVGLVKEEVDVAVITAAECLKEEGKTS
ALTCSLPKNEDLCLNDSNSRDENFKLPDFSFQEDKTVIKQSAQEDSKSLDLKDNDVIQDS
SSALHVSSKDVPSSLSCLPASGSMCGSLIESKARGDFLPQHEHKDNIQDAVTIHEEIQNS
VVLGGEPFKENDLLKQEKCKSILLQSLIEGMEDRKIDPDQTVIRAESLDGGDTSSTVVES
QEGLSGTHVPESSDCCEGFINTFSSNDMDGQDLDYFNIDEGAKSGPLISDAELDAFLTEQ
YLQTTNIKSFEENVNDSKSQMNQIDMKGLDDGNINNIYFNAEAGAIGESHGINIICEIVD
KQNTIENGLSLGEKSTIPVQQGLPTSKSEITNQLSVSDINSQSVGGARPKQLFSLPSRTR
SSKDLNKPDVPDTIESEPSTADTVVPITCAIDSTADPQVSFNSNYIDIESNSEGGSSFVT
ANEDSVPENTCKEGLVLGQKQPTWVPDSEAPNCMNCQVKFTFTKRRHHCRACGKVFCGVC
CNRKCKLQYLEKEARVCVVCYETISKAQAFERMMSPTGSNLKSNHSDECTTVQPPQENQT
SSIPSPATLPVSALKQPGVEGLCSKEQKRVWFADGILPNGEVADTTKLSSGSKRCSEDFS
PLSPDVPMTVNTVDHSHSTTVEKPNNETGDITRNEIIQSPISQVPSVEKLSMNTGNEGLP
TSGSFTLDDDVFAETEEPSSPTGVLVNSNLPIASISDYRLLCDINKYVCNKISLLPNDED
SLPPLLVASGEKGSVPVVEEHPSHEQIILLLEGESFHPVTFVLNANLLVNVKFIFYSSDK
YWYFSTNGLHGLGQAEIIILLLCLPNEDTIPKDIFRLFITIYKDALKGKYIENLDNITFT
ESFLSSKDHGGFLFITPTFQKLDDLSLPSNPFLCGILIQKLEIPWAKVFPMRLMLRLGAE
YKAYPAPLTSIRGRKPLFGEIGHTIMNLLVDLRNYQYTLHNIDQLLIHMEMGKSCIKIPR
KKYSDVMKVLNSSNEHVISIGASFSTEADSHLVCIQNDGIYETQANSATGHPRKVTGASF
VVFNGALKTSSGFLAKSSIVEDGLMVQITPETMNGLRLALREQKDFKITCGKVDAVDLRE
YVDICWVDAEEKGNKGVISSVDGISLQGFPSEKIKLEADFETDEKIVKCTEVFYFLKDQD
LSILSTSYQFAKEIAMACSAALCPHLKTLKSNGMNKIGLRVSIDTDMVEFQAGSEGQLLP
QHYLNDLDSALIPVIHGGTSNSSLPLEIELVFFIIEHLF

Sequence length

1539

Interactions

View interactions

	KEGG		Reactome
	Endocytosis TGF-beta signaling pathway		Signaling by BMP

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral arteriovenous malformation	Likely pathogenic	rs1554047435	RCV000656334

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Dextrocardia	Uncertain significance	rs1561277007, rs1561310640	RCV000754894 RCV000754895
Sarcoma	Uncertain significance	rs200739138	RCV005928835

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Huntington Disease	Associate	33049985
Neoplasm Metastasis	Associate	27270314
Stomach Neoplasms	Associate	27270314

ZFYVE16 (zinc finger FYVE-type containing 16)