• Gene id: 57414

Gene Summary

• Gene Symbol: RHBDD2   Gene   UCSC   Ensembl
• Aliases: NPD007, RHBDL7
• Gene name: rhomboid domain containing 2
• Alternate names: rhomboid domain-containing protein 2, rhomboid, veinlet-like 7,
• Gene location: 7q11.23 (75878991: 75888925)     Exons: 6     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates wit
• OMIM: 0

Protein Summary

• Protein general information: Q6NTF9  
  • Name: Rhomboid domain containing protein 2
  • Length: 364  
  • Mass: 39202
• Sequence:

  MAASGPGCRSWCLCPEVPSATFFTALLSLLVSGPRLFLLQQPLAPSGLTLKSEALRNWQVYRLVTYIFVYENPIS
  LLCGAIIIWRFAGNFERTVGTVRHCFFTVIFAIFSAIIFLSFEAVSSLSKLGEVEDARGFTPVAFAMLGVTTVRS
  RMRRALVFGMVVPSVLVPWLLLGASWLIPQTSFLSNVCGLSIGLAYGLTYCYSIDLSERVALKLDQTFPFSLMRR
  ISVFKYVSGSSAERRAAQSRKLNPVPGSYPTQSCHPHLSPSHPVSQTQHASGQKLASWPSCTPGHMPTLPPYQPA
  SGLCYVQNHFGPNPTSSSVYPASAGTSLGIQPPTPVNSPGTVYSGALGTPGAAGSKESSRVPMP

• Structural information:
  • Interpro: IPR022764  IPR035952  
  • STRING: ENSP00000006777
• Other Databases: GeneCards:  RHBDD2  Malacards:  RHBDD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IBA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0051787	misfolded protein binding	IBA	molecular function
GO:1990381	ubiquitin-specific protease binding	IBA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)