abnormal immune organ physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the organs of the immune system (Mammalian Phenotype Ontology, MP_0003762)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003762
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Genes

128 gene mutations causing the abnormal immune organ physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
AIRE autoimmune regulator
AKAP13 A kinase (PRKA) anchor protein 13
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BCL2 B-cell CLL/lymphoma 2
BIRC6 baculoviral IAP repeat containing 6
BRAF B-Raf proto-oncogene, serine/threonine kinase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CBX2 chromobox homolog 2
CBX4 chromobox homolog 4
CCNE1 cyclin E1
CCR2 chemokine (C-C motif) receptor 2
CCR4 chemokine (C-C motif) receptor 4
CD247 CD247 molecule
CD28 CD28 molecule
CD99 CD99 molecule
CDK6 cyclin-dependent kinase 6
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
COMMD3-BMI1 COMMD3-BMI1 readthrough
COPS6 COP9 signalosome subunit 6
CORO1A coronin, actin binding protein, 1A
CRLF2 cytokine receptor-like factor 2
CSF1 colony stimulating factor 1 (macrophage)
CTC1 CTS telomere maintenance complex component 1
CTSV cathepsin V
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL10 chemokine (C-X-C motif) ligand 10
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DTX1 deltex 1, E3 ubiquitin ligase
EEF1E1 eukaryotic translation elongation factor 1 epsilon 1
ESR1 estrogen receptor 1
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
FAIM Fas apoptotic inhibitory molecule
FAS Fas cell surface death receptor
FLG filaggrin
FOXN1 forkhead box N1
FOXP3 forkhead box P3
FYN FYN proto-oncogene, Src family tyrosine kinase
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HR hair growth associated
IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL13 interleukin 13
IL15RA interleukin 15 receptor, alpha
IL2 interleukin 2
IL21R interleukin 21 receptor
IL2RG interleukin 2 receptor, gamma
IL4 interleukin 4
IL6ST interleukin 6 signal transducer
ING1 inhibitor of growth family, member 1
ITFG2 integrin alpha FG-GAP repeat containing 2
ITPKB inositol-trisphosphate 3-kinase B
KIFAP3 kinesin-associated protein 3
KLF13 Kruppel-like factor 13
LAMA2 laminin, alpha 2
LAT linker for activation of T cells
LCK LCK proto-oncogene, Src family tyrosine kinase
LCN2 lipocalin 2
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)
LIG1 ligase I, DNA, ATP-dependent
MAP2K6 mitogen-activated protein kinase kinase 6
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NCOA3 nuclear receptor coactivator 3
NDRG1 N-myc downstream regulated 1
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NFE2L2 nuclear factor, erythroid 2-like 2
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
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NTAN1 N-terminal asparagine amidase
OPRM1 opioid receptor, mu 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PERP PERP, TP53 apoptosis effector
PNP purine nucleoside phosphorylase
POLB polymerase (DNA directed), beta
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
PRDM1 PR domain containing 1, with ZNF domain
PRF1 perforin 1 (pore forming protein)
PRKCQ protein kinase C, theta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
RNF128 ring finger protein 128, E3 ubiquitin protein ligase
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RORC RAR-related orphan receptor C
RUNX1 runt-related transcription factor 1
SETD7 SET domain containing (lysine methyltransferase) 7
SHARPIN SHANK-associated RH domain interactor
SIGIRR single immunoglobulin and toll-interleukin 1 receptor (TIR) domain
SIRT6 sirtuin 6
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SMAD3 SMAD family member 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STEAP3 STEAP family member 3, metalloreductase
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
TGFB1 transforming growth factor, beta 1
TICAM1 toll-like receptor adaptor molecule 1
TIMD4 T-cell immunoglobulin and mucin domain containing 4
TLR2 toll-like receptor 2
TLR7 toll-like receptor 7
TLX1 T-cell leukemia homeobox 1
TMEM109 transmembrane protein 109
TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2
TNFRSF9 tumor necrosis factor receptor superfamily, member 9
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TP53 tumor protein p53
TP73 tumor protein p73
TRAF2 TNF receptor-associated factor 2
TWSG1 twisted gastrulation BMP signaling modulator 1
TYK2 tyrosine kinase 2
USP4 ubiquitin specific peptidase 4 (proto-oncogene)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WAS Wiskott-Aldrich syndrome
WT1 Wilms tumor 1
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa