abnormal class switch recombination Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions (Mammalian Phenotype Ontology, MP_0004816)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004816
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Genes

66 gene mutations causing the abnormal class switch recombination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AICDA activation-induced cytidine deaminase
APLF aprataxin and PNKP like factor
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ATM ATM serine/threonine kinase
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2
BATF basic leucine zipper transcription factor, ATF-like
BCL3 B-cell CLL/lymphoma 3
CCR7 chemokine (C-C motif) receptor 7
CD28 CD28 molecule
CD37 CD37 molecule
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD40LG CD40 ligand
CD79A CD79a molecule, immunoglobulin-associated alpha
CR2 complement component (3d/Epstein Barr virus) receptor 2
CYLD cylindromatosis (turban tumor syndrome)
DOCK2 dedicator of cytokinesis 2
ERCC1 excision repair cross-complementation group 1
ESR1 estrogen receptor 1
EXO1 exonuclease 1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
H2AFX H2A histone family, member X
HOXC4 homeobox C4
ICOS inducible T-cell co-stimulator
ICOSLG inducible T-cell co-stimulator ligand
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1)
IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker)
IGHM immunoglobulin heavy constant mu
IL2 interleukin 2
IL21 interleukin 21
IL2RG interleukin 2 receptor, gamma
IRF4 interferon regulatory factor 4
LTA lymphotoxin alpha
LTB lymphotoxin beta (TNF superfamily, member 3)
LYN LYN proto-oncogene, Src family tyrosine kinase
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MDC1 mediator of DNA-damage checkpoint 1
MIR155 microRNA 155
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MSH2 mutS homolog 2
NFIL3 nuclear factor, interleukin 3 regulated
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBID nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta
NHEJ1 nonhomologous end-joining factor 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RAG1 recombination activating gene 1
RIF1 replication timing regulatory factor 1
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RUVBL2 RuvB-like AAA ATPase 2
SMAD7 SMAD family member 7
SPPL2A signal peptide peptidase like 2A
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
SWAP70 SWAP switching B-cell complex 70kDa subunit
TNF tumor necrosis factor
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TP53BP1 tumor protein p53 binding protein 1
UNG uracil-DNA glycosylase
VAV2 vav 2 guanine nucleotide exchange factor
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZC3H12A zinc finger CCCH-type containing 12A
ZEB1 zinc finger E-box binding homeobox 1