ZFYVE19 (zinc finger FYVE-type containing 19)

Gene

• Entrez ID: 84936
• Gene name: Zinc finger FYVE-type containing 19
• Gene symbol: ZFYVE19
• Synonyms (NCBI Gene): ANCHR, MPFYVE, PFIC9
• Chromosome: 15
• Chromosome location: 15q15.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052657	hsa-miR-3117-3p	CLASH	23622248
MIRT1512286	hsa-miR-296-5p	CLIP-seq
MIRT1512287	hsa-miR-4266	CLIP-seq
MIRT1512288	hsa-miR-4695-5p	CLIP-seq
MIRT1512289	hsa-miR-4779	CLIP-seq
MIRT1512290	hsa-miR-576-5p	CLIP-seq
MIRT2154298	hsa-miR-1914	CLIP-seq
MIRT2154299	hsa-miR-2861	CLIP-seq
MIRT2154300	hsa-miR-3157-3p	CLIP-seq
MIRT2154301	hsa-miR-3184	CLIP-seq
MIRT2154302	hsa-miR-423-5p	CLIP-seq
MIRT2154303	hsa-miR-4728-5p	CLIP-seq
MIRT2154304	hsa-miR-4755-3p	CLIP-seq
MIRT2154298	hsa-miR-1914	CLIP-seq
MIRT2154299	hsa-miR-2861	CLIP-seq
MIRT2397380	hsa-miR-302a	CLIP-seq
MIRT2397381	hsa-miR-302b	CLIP-seq
MIRT2397382	hsa-miR-302c	CLIP-seq
MIRT2397383	hsa-miR-302d	CLIP-seq
MIRT2397384	hsa-miR-302e	CLIP-seq
MIRT2154300	hsa-miR-3157-3p	CLIP-seq
MIRT2154301	hsa-miR-3184	CLIP-seq
MIRT2397385	hsa-miR-372	CLIP-seq
MIRT2397386	hsa-miR-373	CLIP-seq
MIRT2154302	hsa-miR-423-5p	CLIP-seq
MIRT2397387	hsa-miR-4301	CLIP-seq
MIRT2154303	hsa-miR-4728-5p	CLIP-seq
MIRT2154304	hsa-miR-4755-3p	CLIP-seq
MIRT2397388	hsa-miR-519a	CLIP-seq
MIRT2397389	hsa-miR-519b-3p	CLIP-seq
MIRT2397390	hsa-miR-519c-3p	CLIP-seq
MIRT2397391	hsa-miR-520a-3p	CLIP-seq
MIRT2397392	hsa-miR-520b	CLIP-seq
MIRT2397393	hsa-miR-520c-3p	CLIP-seq
MIRT2397394	hsa-miR-520d-3p	CLIP-seq
MIRT2397395	hsa-miR-520e	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17500595, 23275563, 24814515, 25416956, 26871637, 31515488, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	24814515
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	24814515
GO:0032154	Component	Cleavage furrow	IBA
GO:0032154	Component	Cleavage furrow	IDA	24814515
GO:0032154	Component	Cleavage furrow	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	24814515
GO:0032466	Process	Negative regulation of cytokinesis	IMP	24814515
GO:0044878	Process	Mitotic cytokinesis checkpoint signaling	IBA
GO:0044878	Process	Mitotic cytokinesis checkpoint signaling	IMP	24814515
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0061952	Process	Midbody abscission	IMP	24814515
GO:0090543	Component	Flemming body	IEA

Other IDs

• MIM: 619635
• HGNC: 20758
• e!Ensembl: ENSG00000166140

Protein

• UniProt ID: Q96K21
• Protein name: Abscission/NoCut checkpoint regulator (ANCHR) (MLL partner containing FYVE domain) (Zinc finger FYVE domain-containing protein 19)
• Protein function: Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01363	FYVE	73 → 134	FYVE zinc finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain, heart, skeletal muscle and kidney (PubMed:12618766). Expressed in the liver (at protein level) (PubMed:12618766, PubMed:32737136). {ECO:0000269|PubMed:12618766, ECO:0000269|PubMed:32737136}.
• Sequence:

  MNYDSQQPPLPPLPYAGCRRASGFPALGRGGTVPVGVWGGAGQGREGRSWGEGPRGPGLG
  RRDLSSADPAVLGATMESRCYGCAVKFTLFKKEYGCKNCGRAFCSGCLSFSAAVPRTGNT
  QQKVCKQCHEVLTRGSSANASKWSPPQNYKKRVAALEAKQKPSTSQSQGLTRQDQMIAER
  LARLRQENKPKLVPSQAEIEARLAALKDERQGSIPSTQEMEARLAALQGRVLPSQTPQPA
  HHTPDTRTQAQQTQDLLTQLAAEVAIDESWKGGGPAASLQNDLNQGGPGSTNSKRQANWS
  LEEEKSRLLAEAALELREENTRQERILALAKRLAMLRGQDPERVTLQDYRLPDSDDDEDE
  ETAIQRVLQQLTEEASLDEASGFNIPAEQASRPWTQPRGAEPEAQDVDPRPEAEEEELPW
  CCICNEDATLRCAGCDGDLFCARCFREGHDAFELKEHQTSAYSPPRAGQEH

• Sequence length: 471

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cholestasis, progressive familial intrahepatic, 9	Pathogenic	rs769683740, rs1215965232, rs753989803, rs771251472, rs1890395046, rs375497733	RCV002248324 RCV002248325 RCV002248326 RCV002248327 RCV002248328 RCV002248329	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ZFYVE19-related disorder	Likely pathogenic	rs779395187	RCV003904671	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cholestasis	Cholelithiasis	Pubtator	33853651, 39387424	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	33853651, 39387424	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis progressive familial intrahepatic 1	Cholelithiasis	Pubtator	33853651	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	20124481	Stimulate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	39387424	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12618766		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33853651	Associate	★☆☆☆☆ Found in Text Mining only