RUFY4 (RUN and FYVE domain containing 4)

Gene

• Entrez ID: 285180
• Gene name: RUN and FYVE domain containing 4
• Gene symbol: RUFY4
• Synonyms (NCBI Gene): ZFYVE31
• Chromosome: 2
• Chromosome location: 2q35

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1322546	hsa-miR-1278	CLIP-seq
MIRT1322547	hsa-miR-199a-3p	CLIP-seq
MIRT1322548	hsa-miR-199b-3p	CLIP-seq
MIRT1322549	hsa-miR-223	CLIP-seq
MIRT1322550	hsa-miR-3129-5p	CLIP-seq
MIRT1322551	hsa-miR-4697-3p	CLIP-seq
MIRT1322552	hsa-miR-487a	CLIP-seq
MIRT1322553	hsa-miR-936	CLIP-seq
MIRT2393954	hsa-miR-1287	CLIP-seq
MIRT2393955	hsa-miR-3135b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IDA	26416964
GO:0005515	Function	Protein binding	IPI	25416956, 26416964, 29892012, 32296183, 32814053, 33961781, 35314674
GO:0005764	Component	Lysosome	IEA
GO:0005776	Component	Autophagosome	IBA
GO:0005776	Component	Autophagosome	IDA	26416964
GO:0005776	Component	Autophagosome	IEA
GO:0006914	Process	Autophagy	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016239	Process	Positive regulation of macroautophagy	IBA
GO:0016239	Process	Positive regulation of macroautophagy	IEA
GO:0016239	Process	Positive regulation of macroautophagy	IMP	26416964
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	26416964
GO:0034452	Function	Dynactin binding	IDA	35314674
GO:0036019	Component	Endolysosome	IDA	35314674
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0045780	Process	Positive regulation of bone resorption	ISS
GO:0045921	Process	Positive regulation of exocytosis	IEA
GO:0045921	Process	Positive regulation of exocytosis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0061763	Process	Multivesicular body-lysosome fusion	IEA
GO:0061763	Process	Multivesicular body-lysosome fusion	ISS
GO:0071353	Process	Cellular response to interleukin-4	IDA	26416964
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:2001019	Process	Positive regulation of retrograde axon cargo transport	IDA	35314674

Other IDs

• MIM: 620994
• HGNC: 24804
• e!Ensembl: ENSG00000188282

Protein

• UniProt ID: Q6ZNE9
• Protein name: RUN and FYVE domain-containing protein 4
• Protein function: ARL8 effector that promotes the coupling of endolysosomes to dynein-dynactin for retrograde transport along microtubules. Acts by binding both GTP-bound ARL8 and dynein-dynactin. In nonneuronal cells, promotes concentration of endolysosomes in t
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02759	RUN	41 → 165	RUN domain	Family

• Sequence:

  MAEEGAILKVTKDLRAAVSAILQGYGDGQGPVTDTSAELHRLCGCLELLLQFDQKEQKSF
  LGPRKDYWDFLCTALRRQRGNMEPIHFVRSQDKLKTPLGKGRAFIRFCLARGQLAEALQL
  CLLNSELTREWYGPRSPLLCPERQEDILDSLYALNGVAFELDLQQPDLDGAWPMFSESRC
  SSSTQTQGRRPRKNKDAPKKIPAAYGGPENVQIEDSHTSQAICLQDAPSGQQLAGLPRSQ
  QQRHLPFFLEKKGESSRKHRYPQSMWEPEGKELQLDQEERAPWIEIFLGNSTPSTQGQGK
  GAMGTQKEVIGMEAEVTGVLLVAEGQRTTEGTHKKEAEWSHVQRLLMPSPRGAVEGAVSG
  SRQGSGGSSILGEPWVLQGHATKEDSTVENPQVQTEVTLVARREEQAEVSLQDEIKSLRL
  GLRKAEEQAQRQEQLLREQEGELQALREQLSRCQEERAELQAQLEQKQQEAERRDAMYQE
  ELGGQRDLVQAMKRRVLELIQEKDRLWQRLQHLSSMAPECCVACSKIFGRFSRRYPCRLC
  GGLLCHACSMDYKKRDRCCPPCAQGREAQVT

• Sequence length: 571

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PARENCHYMAL HEMATOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Asthma	Associate	26760128	★☆☆☆☆ Found in Text Mining only