• Gene id: 85415

Gene Summary

• Gene Symbol: RHPN2   Gene   UCSC   Ensembl
• Aliases: P76RBE, RHOBP
• Gene name: rhophilin Rho GTPase binding protein 2
• Alternate names: rhophilin-2, 76 kDa RhoB effector protein, GTP-Rho-binding protein 2, rhophilin-like Rho-GTPase binding protein,
• Gene location: 19q13.11 (33064887: 32978591)     Exons: 15     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by R
• OMIM: 617932

Protein Summary

• Protein general information: Q8IUC4  
  • Name: Rhophilin 2 (76 kDa RhoB effector protein) (GTP Rho binding protein 2) (p76RBE)
  • Length: 686  
  • Mass: 76993
  • Tissue specificity: Widely expressed. Highly expressed in prostate, trachea, stomach, colon, thyroid and pancreas. Expressed at lower level in brain, spinal cord, kidney, placenta and liver. {ECO
• Sequence:

  MTDALLPAAPQPLEKENDGYFRKGCNPLAQTGRSKLQNQRAALNQQILKAVRMRTGAENLLKVATNSKVREQVRL
  ELSFVNSDLQMLKEELEGLNISVGVYQNTEEAFTIPLIPLGLKETKDVDFAVVLKDFILEHYSEDGYLYEDEIAD
  LMDLRQACRTPSRDEAGVELLMTYFIQLGFVESRFFPPTRQMGLLFTWYDSLTGVPVSQQNLLLEKASVLFNTGA
  LYTQIGTRCDRQTQAGLESAIDAFQRAAGVLNYLKDTFTHTPSYDMSPAMLSVLVKMMLAQAQESVFEKISLPGI
  RNEFFMLVKVAQEAAKVGEVYQQLHAAMSQAPVKENIPYSWASLACVKAHHYAALAHYFTAILLIDHQVKPGTDL
  DHQEKCLSQLYDHMPEGLTPLATLKNDQQRRQLGKSHLRRAMAHHEESVREASLCKKLRSIEVLQKVLCAAQERS
  RLTYAQHQEEDDLLNLIDAPSVVAKTEQEVDIILPQFSKLTVTDFFQKLGPLSVFSANKRWTPPRSIRFTAEEGD
  LGFTLRGNAPVQVHFLDPYCSASVAGAREGDYIVSIQLVDCKWLTLSEVMKLLKSFGEDEIEMKVVSLLDSTSSM
  HNKSATYSVGMQKTYSMICLAIDDDDKTDKTKKISKKLSFLSWGTNKNRQKSASTLCLPSVGAARPQVKKKLPSP
  FSLLNSDSSWY

• Structural information:
  • Protein Domains: (26..10-)
    (/note="REM-1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01207-)
    (111..46-)
    (/note="BRO1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00526-)
    (515..59-)
    (/note="PDZ"-)
  • Interpro: IPR004328  IPR038499  IPR011072  IPR036274  IPR001478   IPR036034  
  • Prosite: PS51180 PS51860
  • PDB: 2VSV
  • PDBsum: 2VSV
  • STRING: ENSP00000254260
• Other Databases: GeneCards:  RHPN2  Malacards:  RHPN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq