• Gene id: 6007

Gene Summary

• Gene Symbol: RHD   Gene   UCSC   Ensembl
• Aliases: CD240D, DIIIc, RH, RH30, RHCED, RHDVA(TT), RHDel, RHPII, RHXIII, Rh4, RhDCw, RhII, RhK562-II, RhPI
• Gene name: Rh blood group D antigen
• Alternate names: blood group Rh(D) polypeptide, D antigen (DCS), RH polypeptide 2, Rh blood group C antigen, Rh blood group CE antigen, Rh blood group CcEe antigen, Rh blood group antigen Evans, Rh blood group, D anitgen, RhD antigen, RhD blood group antigen, RhD polypeptide, Rhesus,
• Gene location: 1p36.11 (25272392: 25330444)     Exons: 11     NC_000001.11
• Gene summary(Entrez): The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood grou
• OMIM: 600464

Protein Summary

• Protein general information: Q02161  
  • Name: Blood group Rh(D) polypeptide (RHXIII) (Rh polypeptide 2) (RhPII) (Rhesus D antigen) (CD antigen CD240D)
  • Length: 417  
  • Mass: 45211
  • Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters.
• Sequence:

  MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWS
  SVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTAL
  GNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNS
  ALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLV
  AGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIV
  IALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF

• Structural information:
  • Interpro: IPR029020  IPR024041  IPR002229  
• Other Databases: GeneCards:  RHD  Malacards:  RHD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072488	ammonium transmembrane transport	IBA	biological process
GO:0008519	ammonium transmembrane transporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0008519	ammonium transmembrane transporter activity	IEA	molecular function
GO:0015696	ammonium transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component

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