JR
MCID: BLD159
MIFTS: 15

Blood Group, Junior System (JR)

Categories: Blood diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Blood Group, Junior System

MalaCards integrated aliases for Blood Group, Junior System:

Name: Blood Group, Junior System 57 6
Blood Group System, Junior 39
Junior Blood Group System 57
Jr 57

Classifications:



External Ids:

OMIM® 57 614490

Summaries for Blood Group, Junior System

OMIM® : 57 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 (summary by Kim et al., 2010 and Zelinski et al., 2012). (614490) (Updated 20-May-2021)

MalaCards based summary : Blood Group, Junior System, also known as blood group system, junior, is related to uric acid concentration, serum, quantitative trait locus 1. An important gene associated with Blood Group, Junior System is ABCG2 (ATP Binding Cassette Subfamily G Member 2 (Junior Blood Group)). Affiliated tissues include breast.

Wikipedia : 73 The Junior blood group system (or JR) is a human blood group defined by the presence or absence of the... more...

Related Diseases for Blood Group, Junior System

Diseases related to Blood Group, Junior System via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 uric acid concentration, serum, quantitative trait locus 1 10.1

Symptoms & Phenotypes for Blood Group, Junior System

Clinical features from OMIM®:

614490 (Updated 20-May-2021)

Drugs & Therapeutics for Blood Group, Junior System

Search Clinical Trials , NIH Clinical Center for Blood Group, Junior System

Genetic Tests for Blood Group, Junior System

Anatomical Context for Blood Group, Junior System

MalaCards organs/tissues related to Blood Group, Junior System:

40
Breast

Publications for Blood Group, Junior System

Articles related to Blood Group, Junior System:

# Title Authors PMID Year
1
Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior. 61 6 57
22246505 2012
2
ABCG2 null alleles define the Jr(a-) blood group phenotype. 6 57
22246507 2012
3
Hemolytic disease of the newborn associated with anti-Jra alloimmunization in a twin pregnancy: the first case report in Korea. 57
20890084 2010
4
Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. 6
20368174 2009
5
Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. 6
19506252 2009
6
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. 6
18834626 2008
7
Fatal hemolytic disease of the fetus and newborn associated with anti-Jr. 57
18522708 2008
8
Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population. 6
16702730 2006
9
A human monoclonal antibody to high-frequency red cell antigen Jra. 57
8146983 1994
10
An example of anti-Jra causing hemolytic disease of the newborn and frequency of Jra antigen in the Japanese population. 57
567888 1978

Variations for Blood Group, Junior System

ClinVar genetic disease variations for Blood Group, Junior System:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCG2 NM_004827.3(ABCG2):c.736C>T (p.Arg246Ter) SNV Affects 30383 rs200190472 GRCh37: 4:89039366-89039366
GRCh38: 4:88118214-88118214
2 ABCG2 NM_004827.3(ABCG2):c.376C>T (p.Gln126Ter) SNV association 30385 rs72552713 GRCh37: 4:89052957-89052957
GRCh38: 4:88131805-88131805
3 ABCG2 NM_004827.3(ABCG2):c.34G>A (p.Val12Met) SNV Affects 30386 rs2231137 GRCh37: 4:89061114-89061114
GRCh38: 4:88139962-88139962
4 ABCG2 NM_004827.3(ABCG2):c.706C>T (p.Arg236Ter) SNV association 30387 rs140207606 GRCh37: 4:89039396-89039396
GRCh38: 4:88118244-88118244
5 ABCG2 NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) SNV association 30389 rs2231142 GRCh37: 4:89052323-89052323
GRCh38: 4:88131171-88131171
6 ABCG2 NM_004827.3(ABCG2):c.1111_1112del (p.Thr371fs) Deletion Affects 30384 rs387906869 GRCh37: 4:89034537-89034538
GRCh38: 4:88113385-88113386
7 ABCG2 NM_004827.3(ABCG2):c.791_792del (p.Leu264fs) Deletion Affects 30388 rs387906870 GRCh37: 4:89039310-89039311
GRCh38: 4:88118158-88118159

Expression for Blood Group, Junior System

Search GEO for disease gene expression data for Blood Group, Junior System.

Pathways for Blood Group, Junior System

GO Terms for Blood Group, Junior System

Sources for Blood Group, Junior System

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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