• Gene id: 9185

Gene Summary

• Gene Symbol: REPS2   Gene   UCSC   Ensembl
• Aliases: POB1
• Gene name: RALBP1 associated Eps domain containing 2
• Alternate names: ralBP1-associated Eps domain-containing protein 2, RALBP1-interacting protein 2, partner of Ral-binding protein 1, partner of RalBP1,
• Gene location: Xp22.2 (16946657: 17220723)     Exons: 23     NC_000023.11
• Gene summary(Entrez): The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression c
• OMIM: 603892

Protein Summary

• Protein general information: Q8NFH8  
  • Name: RalBP1 associated Eps domain containing protein 2 (Partner of RalBP1) (RalBP1 interacting protein 2)
  • Length: 660  
  • Mass: 71534
  • Tissue specificity: Expressed at high levels in the cerebrum, cerebellum, lung, kidney, and testis. Weakly expressed in the kidney. Relatively highly expressed in androgen-dependent as compared to androgen-independent prostate cancer cell lines and xenogr
• Sequence:

  MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPV
  ADLFRASQLPAETLHQITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRF
  GNPAELHGTKVQIPYLTTEKNSFKRMDDEDKQQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPA
  PYEARQPLVQPEGSSSGGPGTKPLRHQASLIRSFSVERELQDNSSYPDEPWRITEEQREYYVNQFRSLQPDPSSF
  ISGSVAKNFFTKSKLSIPELSYIWELSDADCDGALTLPEFCAAFHLIVARKNGYPLPEGLPPTLQPEYLQAAFPK
  PKWDCQLFDSYSESLPANQQPRDLNRMEKTSVKDMADLPVPNQDVTSDDKQALKSTINEALPKDVSEDPATPKDS
  NSLKARPRSRSYSSTSIEEAMKRGEDPPTPPPRPQKTHSRASSLDLNKVFQPSVPATKSGLLPPPPALPPRPCPS
  QSEQVSEAELLPQLSRAPSQAAESSPAKKDVLYSQPPSKPIRRKFRPENQATENQEPSTAASGPASAATMKPHPT
  VQKQSSKQKKAIQTAIRKNKEANAVLARLNSELQQQLKEVHQERIALENQLEQLRPVTVL

• Structural information:
  • Protein Domains: (34..14-)
    (/note="EH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (282..37-)
    (/note="EH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (315..35-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR000261  
  • Prosite: PS00018 PS50222 PS50031
  • CDD: cd00052
  • PDB: 1IQ3
  • PDBsum: 1IQ3
  • STRING: ENSP00000349824
• Other Databases: GeneCards:  REPS2  Malacards:  REPS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006897	endocytosis	IBA	biological process
GO:0016197	endosomal transport	IBA	biological process
GO:0030132	clathrin coat of coated pit	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881