MCID: RCM001
MIFTS: 13

Recombinase Activating Gene 2 Deficiency

Categories: Immune diseases

Aliases & Classifications for Recombinase Activating Gene 2 Deficiency

MalaCards integrated aliases for Recombinase Activating Gene 2 Deficiency:

Name: Recombinase Activating Gene 2 Deficiency 12 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0060012

Summaries for Recombinase Activating Gene 2 Deficiency

Disease Ontology : 12 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.

MalaCards based summary : Recombinase Activating Gene 2 Deficiency An important gene associated with Recombinase Activating Gene 2 Deficiency is RAG2 (Recombination Activating 2). Affiliated tissues include bone marrow and t cells.

Related Diseases for Recombinase Activating Gene 2 Deficiency

Symptoms & Phenotypes for Recombinase Activating Gene 2 Deficiency

Drugs & Therapeutics for Recombinase Activating Gene 2 Deficiency

Search Clinical Trials , NIH Clinical Center for Recombinase Activating Gene 2 Deficiency

Genetic Tests for Recombinase Activating Gene 2 Deficiency

Anatomical Context for Recombinase Activating Gene 2 Deficiency

MalaCards organs/tissues related to Recombinase Activating Gene 2 Deficiency:

40
Bone Marrow, T Cells

Publications for Recombinase Activating Gene 2 Deficiency

Articles related to Recombinase Activating Gene 2 Deficiency:

(show all 13)
# Title Authors PMID Year
1
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 6
26457731 2015
2
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. 6
22841008 2012
3
Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. 6
23243423 2012
4
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 6
21624848 2011
5
Analysis of mutations and recombination activity in RAG-deficient patients. 6
21131235 2011
6
Omenn syndrome due to mutation of the RAG2 gene. 6
19470080 2009
7
An immunodeficiency disease with RAG mutations and granulomas. 6
18463379 2008
8
RAG-dependent primary immunodeficiencies. 6
16960852 2006
9
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. 6
15025726 2004
10
The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. 6
12200379 2002
11
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. 6
11313270 2001
12
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 6
11133745 2001
13
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. 6
10891502 2000

Variations for Recombinase Activating Gene 2 Deficiency

ClinVar genetic disease variations for Recombinase Activating Gene 2 Deficiency:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAG2 NM_000536.4(RAG2):c.539C>A (p.Pro180His) SNV Pathogenic 418453 rs1064793251 GRCh37: 11:36615180-36615180
GRCh38: 11:36593630-36593630
2 RAG2 NM_000536.4(RAG2):c.186C>A (p.Phe62Leu) SNV Likely pathogenic 496619 rs1564997563 GRCh37: 11:36615533-36615533
GRCh38: 11:36593983-36593983
3 RAG2 NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) SNV Likely pathogenic 13137 rs121918574 GRCh37: 11:36615489-36615489
GRCh38: 11:36593939-36593939
4 RAG2 NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) SNV Likely pathogenic 496632 rs1204766339 GRCh37: 11:36614344-36614344
GRCh38: 11:36592794-36592794
5 RAG2 NM_000536.4(RAG2):c.470G>T (p.Gly157Val) SNV Likely pathogenic 496622 rs1564997121 GRCh37: 11:36615249-36615249
GRCh38: 11:36593699-36593699
6 RAG2 NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp) SNV Likely pathogenic 496623 rs1479328926 GRCh37: 11:36615136-36615136
GRCh38: 11:36593586-36593586
7 RAG2 NM_000536.4(RAG2):c.2T>C (p.Met1Thr) SNV Likely pathogenic 488726 rs1554947410 GRCh37: 11:36615717-36615717
GRCh38: 11:36594167-36594167
8 RAG2 NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) SNV Likely pathogenic 427020 rs909264507 GRCh37: 11:36615526-36615526
GRCh38: 11:36593976-36593976
9 RAG2 NM_000536.4(RAG2):c.854T>G (p.Met285Arg) SNV Likely pathogenic 13132 rs121917896 GRCh37: 11:36614865-36614865
GRCh38: 11:36593315-36593315
10 RAG2 NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn) SNV Likely pathogenic 496626 rs754413772 GRCh37: 11:36614399-36614399
GRCh38: 11:36592849-36592849
11 RAG2 NM_000536.4(RAG2):c.1329G>T (p.Met443Ile) SNV Likely pathogenic 496627 rs773710101 GRCh37: 11:36614390-36614390
GRCh38: 11:36592840-36592840
12 RAG2 NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) SNV Likely pathogenic 496629 rs1564995660 GRCh37: 11:36614381-36614381
GRCh38: 11:36592831-36592831
13 RAG2 NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) SNV Likely pathogenic 496630 rs1564995627 GRCh37: 11:36614362-36614362
GRCh38: 11:36592812-36592812
14 RAG2 NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr) SNV Likely pathogenic 496631 rs1564995611 GRCh37: 11:36614353-36614353
GRCh38: 11:36592803-36592803
15 RAG2 NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) SNV Likely pathogenic 13136 rs121917897 GRCh37: 11:36615604-36615604
GRCh38: 11:36594054-36594054
16 RAG2 NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) SNV Likely pathogenic 13131 rs121917895 GRCh37: 11:36615596-36615596
GRCh38: 11:36594046-36594046
17 RAG2 NM_000536.4(RAG2):c.218G>A (p.Arg73His) SNV Likely pathogenic 496620 rs762407838 GRCh37: 11:36615501-36615501
GRCh38: 11:36593951-36593951
18 RAG2 NM_000536.4(RAG2):c.104G>T (p.Gly35Val) SNV Likely pathogenic 496618 rs148508754 GRCh37: 11:36615615-36615615
GRCh38: 11:36594065-36594065
19 RAG2 NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) SNV Uncertain significance 13130 rs121917894 GRCh37: 11:36615033-36615033
GRCh38: 11:36593483-36593483
20 RAG2 NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) SNV Uncertain significance 496624 rs765298019 GRCh37: 11:36615034-36615034
GRCh38: 11:36593484-36593484
21 RAG2 NM_000536.4(RAG2):c.283G>C (p.Gly95Arg) SNV Uncertain significance 496621 rs36001797 GRCh37: 11:36615436-36615436
GRCh38: 11:36593886-36593886
22 RAG2 NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) SNV Uncertain significance 13129 rs121918573 GRCh37: 11:36614286-36614286
GRCh38: 11:36592736-36592736
23 RAG2 NM_000536.4(RAG2):c.1442A>C (p.His481Pro) SNV Uncertain significance 496634 rs1564995465 GRCh37: 11:36614277-36614277
GRCh38: 11:36592727-36592727
24 RAG2 NM_000536.4(RAG2):c.479C>T (p.Ser160Leu) SNV Uncertain significance 418443 rs756694972 GRCh37: 11:36615240-36615240
GRCh38: 11:36593690-36593690
25 RAG2 NM_000536.4(RAG2):c.758C>G (p.Pro253Arg) SNV Uncertain significance 496625 rs1564996700 GRCh37: 11:36614961-36614961
GRCh38: 11:36593411-36593411
26 RAG2 NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) SNV Uncertain significance 36717 rs193922572 GRCh37: 11:36614472-36614472
GRCh38: 11:36592922-36592922
27 RAG2 NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) SNV Uncertain significance 36718 rs193922573 GRCh37: 11:36614410-36614410
GRCh38: 11:36592860-36592860
28 RAG2 NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) SNV Uncertain significance 13138 rs121918575 GRCh37: 11:36614367-36614367
GRCh38: 11:36592817-36592817
29 RAG2 NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) SNV Uncertain significance 36716 rs148508754 GRCh37: 11:36615615-36615615
GRCh38: 11:36594065-36594065
30 RAG2 NM_000536.4(RAG2):c.328A>C (p.Met110Leu) SNV Uncertain significance 36720 rs193922575 GRCh37: 11:36615391-36615391
GRCh38: 11:36593841-36593841
31 RAG2 NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) SNV Uncertain significance 13135 rs35691292 GRCh37: 11:36615075-36615075
GRCh38: 11:36593525-36593525
32 RAG2 NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) SNV Uncertain significance 496628 rs1564995662 GRCh37: 11:36614387-36614387
GRCh38: 11:36592837-36592837
33 RAG2 NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) SNV Likely benign 496633 rs757913323 GRCh37: 11:36614298-36614298
GRCh38: 11:36592748-36592748
34 RAG2 NM_000536.4(RAG2):c.1504A>G (p.Met502Val) SNV Benign 440231 rs145614809 GRCh37: 11:36614215-36614215
GRCh38: 11:36592665-36592665
35 RAG2 NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) SNV Benign 138887 rs34629171 GRCh37: 11:36614561-36614561
GRCh38: 11:36593011-36593011

Expression for Recombinase Activating Gene 2 Deficiency

Search GEO for disease gene expression data for Recombinase Activating Gene 2 Deficiency.

Pathways for Recombinase Activating Gene 2 Deficiency

GO Terms for Recombinase Activating Gene 2 Deficiency

Sources for Recombinase Activating Gene 2 Deficiency

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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