RBCC Red Blood Cell Collection

RHD_HUMAN

Source: PM19886704
PM23856902
BGMUT ; ID: rh
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: RHD
Protein names and data: RHD_HUMAN , Blood group Rh(D) polypeptide , RHXIII; Rh polypeptide 2; RhPII; Rhesus D antigen; CD240D Lenght: 417 a.a.
Mass: 45211 Da
fasta formatted sequence
Function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Cellular location: Membrane; Multi-pass membrane protein.
Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters.

Genetic variants

RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a polymorphism in position 110.

16 - 16 W -> C (in dbSNP:rs586178). VAR_034455 586178
103 - 103 S -> C (in a breast cancer sample; somatic mutation). VAR_035615
110 - 110 L -> P (in Tar antigen). VAR_006919
193 - 193 E -> K (in dbSNP:rs17418091). VAR_034456 17418091
201 - 201 T -> R (in dbSNP:rs17418098). VAR_034457 17418098
218 - 218 M -> I (in dbSNP:rs141540728). VAR_006920 141540728
223 - 223 F -> V (in RhDVa(FK) and RhDVa(TT); dbSNP:rs1053356). VAR_013304 1053356
233 - 233 E -> Q (in RhDVa(FK), RhDVa(TO), RhDVa(TT) and RhDYo; dbSNP:rs1053359). VAR_013305 1053359
238 - 238 V -> M (in RhDVa(TO) and RhDVa(TT); dbSNP:rs1053360). VAR_013306 1053360
245 - 245 V -> L (in RhDVa(TT); dbSNP:rs150073306). VAR_013307 150073306
263 - 263 G -> R (in dbSNP:rs3118454). VAR_047996 3118454
306 - 306 V -> I (in dbSNP:rs590813). VAR_047997 590813
311 - 311 Y -> C (in dbSNP:rs590787). VAR_047998 590787

Database cross-references

UniProt: Q02161
Ensembl: ENST00000328664
Ensembl: ENST00000342055
Ensembl: ENST00000357542
Ensembl: ENST00000417538
Ensembl: ENST00000454452
MIM: 111680
neXtProt: NX_Q02161
Antibodypedia: Q02161 (may not find the protein thus also not any antibody)
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