RBCC

ABCG2_HUMAN

Source: hRBCD ; ID: IPI00298214
PM19886704
PM23856902
BGMUT ; ID: jr
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: ABCG2 , ABCP, BCRP, BCRP1, MXR
Protein names and data: ABCG2_HUMAN , ATP-binding cassette sub-family G member 2 , Breast cancer resistance protein; CDw338; Mitoxantrone resistance-associated protein; Placenta-specific ATP-binding cassette transporter; Urate exporter; CD338 Lenght: 655 a.a.
Mass: 72314 Da
fasta formatted sequence
Function: High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs and xenobiotics: mitoxantrone, the photosensitizer pheophorbide, camptothecin, methotrexate, azidothymidine (AZT), and the anthracyclines daunorubicin and doxorubicin.
Cellular location: Cell membrane; Multi-pass membrane protein. Mitochondrion membrane; Multi-pass membrane protein.
Tissue specificity: Highly expressed in placenta. Low expression in small intestine, liver and colon.

Genetic variants

Genetic variations in ABCG2 define the blood group Junior system (JR) [MIM:614490]. Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent. The Jr(a-) phenotype is inherited as an autosomal recessive trait. Genetic variations in ABCG2 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 1 (UAQTL1) [MIM:138900]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia.

12 - 12 V -> M (found in Jr(a-) blood group phenotype; dbSNP:rs2231137). VAR_020779 2231137
13 - 13 S -> L. VAR_067363
141 - 141 Q -> K (polymorphism associated with high serum levels of uric acid and increased risk of gout; results in lower urate transport rates compared to wild-type; dbSNP:rs2231142). VAR_020780 2231142
160 - 160 R -> Q. VAR_067364
166 - 166 Q -> E (in dbSNP:rs1061017). VAR_022704 1061017
206 - 206 I -> L. VAR_022705
208 - 208 F -> S (in dbSNP:rs1061018). VAR_022706 1061018
248 - 248 S -> P (in dbSNP:rs3116448). VAR_022707 3116448
296 - 296 D -> H (in dbSNP:rs41282401). VAR_030357 41282401
316 - 316 T -> P. VAR_022443
354 - 354 G -> R (in dbSNP:rs138606116). VAR_067365 138606116
431 - 431 F -> L. VAR_018349
441 - 441 S -> N. VAR_067366
489 - 489 F -> L (in dbSNP:rs192169063). VAR_018350 192169063
528 - 528 A -> T (in dbSNP:rs45605536). VAR_030358 45605536
571 - 571 F -> I (in dbSNP:rs9282571). VAR_022708 9282571
590 - 590 N -> Y (in dbSNP:rs34264773). VAR_035355 34264773
620 - 620 D -> N (in dbSNP:rs34783571). VAR_022709 34783571

Database cross-references

UniProt: Q9UNQ0
Ensembl: ENST00000237612
Ensembl: ENST00000515655
MIM: 138900
MIM: 603756
MIM: 614490
neXtProt: NX_Q9UNQ0
Antibodypedia: Q9UNQ0 (may not find the protein thus also not any antibody)
Local full text data: click here

RBCC Red Blood Cell Collection

ABCG2_HUMAN

Genetic variants

Database cross-references

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