• Gene id: 54933

Gene Summary

• Gene Symbol: RHBDL2   Gene   UCSC   Ensembl
• Aliases: RRP2
• Gene name: rhomboid like 2
• Alternate names: rhomboid-related protein 2, rhomboid (veinlet, Drosophila)-like 2, rhomboid protease 2, rhomboid, veinlet-like 2, rhomboid-like protein 2,
• Gene location: 1p34.3 (58008421: 58172250)     Exons: 47     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are t
• OMIM: 608962

Protein Summary

• Protein general information: Q9NX52  
  • Name: Rhomboid related protein 2 (RRP2) (EC 3.4.21.105) (Rhomboid like protein 2) [Cleaved into: Rhomboid related protein 2, N terminal fragment (NTF); Rhomboid related protein 2, C terminal fragment (CTF)]
  • Length: 303  
  • Mass: 34021
• Sequence:

  MAAVHDLEMESMNLNMGREMKEELEEEEKMREDGGGKDRAKSKKVHRIVSKWMLPEKSRGTYLERANCFPPPVFI
  ISISLAELAVFIYYAVWKPQKQWITLDTGILESPFIYSPEKREEAWRFISYMLVHAGVQHILGNLCMQLVLGIPL
  EMVHKGLRVGLVYLAGVIAGSLASSIFDPLRYLVGASGGVYALMGGYFMNVLVNFQEMIPAFGIFRLLIIILIIV
  LDMGFALYRRFFVPEDGSPVSFAAHIAGGFAGMSIGYTVFSCFDKALLKDPRFWIAIAAYLACVLFAVFFNIFLS
  PAN

• Structural information:
  • Interpro: IPR022764  IPR017213  IPR035952  
  • STRING: ENSP00000289248
• Other Databases: GeneCards:  RHBDL2  Malacards:  RHBDL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
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)