• Gene id: 55680

Gene Summary

• Gene Symbol: RUFY2   Gene   UCSC   Ensembl
• Aliases: RABIP4R, ZFYVE13
• Gene name: RUN and FYVE domain containing 2
• Alternate names: RUN and FYVE domain-containing protein 2, Run- and FYVE-domain containing protein, antigen MU-RMS-40.17, rab4-interacting protein related,
• Gene location: 10q21.3 (68407301: 68341111)     Exons: 22     NC_000010.11
• OMIM: 610328

Protein Summary

• Protein general information: Q8WXA3  
  • Name: RUN and FYVE domain containing protein 2 (Rab4 interacting protein related)
  • Length: 606  
  • Mass: 70010
  • Tissue specificity: Expressed in brain, lung and testis. {ECO
• Sequence:

  MATKDPTAVERANLLNMAKLSIKGLIESALSFGRTLDSDYPPLQQFFVVMEHCLKHGLKVRKSFLSYNKTIWGPL
  ELVEKLYPEAEEIGASVRDLPGLKTPLGRARAWLRLALMQKKMADYLRCLIIQRDLLSEFYEYHALMMEEEGAVI
  VGLLVGLNVIDANLCVKGEDLDSQVGVIDFSMYLKNEEDIGNKERNVQIAAILDQKNYVEELNRQLNSTVSSLHS
  RVDSLEKSNTKLIEELAIAKNNIIKLQEENHQLRSENKLILMKTQQHLEVTKVDVETELQTYKHSRQGLDEMYNE
  ARRQLRDESQLRQDVENELAVQVSMKHEIELAMKLLEKDIHEKQDTLIGLRQQLEEVKAINIEMYQKLQGSEDGL
  KEKNEIIARLEEKTNKITAAMRQLEQRLQQAEKAQMEAEDEDEKYLQECLSKSDSLQKQISQKEKQLVQLETDLK
  IEKEWRQTLQEDLQKEKDALSHLRNETQQIISLKKEFLNLQDENQQLKKIYHEQEQALQELGNKLSESKLKIEDI
  KEANKALQGLVWLKDKEATHCKLCEKEFSLSKRKHHCRNCGEIFCNACSDNELPLPSSPKPVRVCDSCHALLIQR
  CSSNLP

• Structural information:
  • Protein Domains: (37..16-)
    (/note="RUN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00178"-)
  • Interpro: IPR004012  IPR037213  IPR000306  IPR017455  IPR011011   IPR013083  
  • Prosite: PS50826 PS50178
  • STRING: ENSP00000373420
• Other Databases: GeneCards:  RUFY2  Malacards:  RUFY2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0030100	regulation of endocytosis	ISS	biological process
GO:0005768	endosome	ISS	cellular component
GO:0017124	SH3 domain binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq