• Gene id: 79651

Gene Summary

• Gene Symbol: RHBDF2   Gene   UCSC   Ensembl
• Aliases: RHBDL5, RHBDL6, TEC, TOC, TOCG, iRhom2
• Gene name: rhomboid 5 homolog 2
• Alternate names: inactive rhomboid protein 2, rhomboid family member 2, rhomboid veinlet-like protein 5, rhomboid veinlet-like protein 6,
• Gene location: 17q25.1 (76501439: 76470892)     Exons: 21     NC_000017.11
• OMIM: 609746

Protein Summary

• Protein general information: Q6PJF5  
  • Name: Inactive rhomboid protein 2 (iRhom2) (Rhomboid 5 homolog 2) (Rhomboid family member 2) (Rhomboid veinlet like protein 5) (Rhomboid veinlet like protein 6)
  • Length: 856  
  • Mass: 96686
  • Tissue specificity: Found in the epidermis and esophageal epithelium. {ECO
• Sequence:

  MASADKNGGSVSSVSSSRLQSRKPPNLSITIPPPEKETQAPGEQDSMLPEGFQNRRLKKSQPRTWAAHTTACPPS
  FLPKRKNPAYLKSVSLQEPRSRWQESSEKRPGFRRQASLSQSIRKGAAQWFGVSGDWEGQRQQWQRRSLHHCSMR
  YGRLKASCQRDLELPSQEAPSFQGTESPKPCKMPKIVDPLARGRAFRHPEEMDRPHAPHPPLTPGVLSLTSFTSV
  RSGYSHLPRRKRMSVAHMSLQAAAALLKGRSVLDATGQRCRVVKRSFAFPSFLEEDVVDGADTFDSSFFSKEEMS
  SMPDDVFESPPLSASYFRGIPHSASPVSPDGVQIPLKEYGRAPVPGPRRGKRIASKVKHFAFDRKKRHYGLGVVG
  NWLNRSYRRSISSTVQRQLESFDSHRPYFTYWLTFVHVIITLLVICTYGIAPVGFAQHVTTQLVLRNKGVYESVK
  YIQQENFWVGPSSIDLIHLGAKFSPCIRKDGQIEQLVLRERDLERDSGCCVQNDHSGCIQTQRKDCSETLATFVK
  WQDDTGPPMDKSDLGQKRTSGAVCHQDPRTCEEPASSGAHIWPDDITKWPICTEQARSNHTGFLHMDCEIKGRPC
  CIGTKGSCEITTREYCEFMHGYFHEEATLCSQVHCLDKVCGLLPFLNPEVPDQFYRLWLSLFLHAGVVHCLVSVV
  FQMTILRDLEKLAGWHRIAIIFILSGITGNLASAIFLPYRAEVGPAGSQFGLLACLFVELFQSWPLLERPWKAFL
  NLSAIVLFLFICGLLPWIDNIAHIFGFLSGLLLAFAFLPYITFGTSDKYRKRALILVSLLAFAGLFAALVLWLYI
  YPINWPWIEHLTCFPFTSRFCEKYELDQVLH

• Structural information:
  • Interpro: IPR022764  IPR035952  IPR022241  
  • STRING: ENSP00000322775
• Other Databases: GeneCards:  RHBDF2  Malacards:  RHBDF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	NOT|molecular function
GO:0050708	regulation of protein secretion	IBA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0050709	negative regulation of protein secretion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019838	growth factor binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0050709	negative regulation of protein secretion	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq