abnormal nk cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation in the number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells (Mammalian Phenotype Ontology, MP_0008043)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008043
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Genes

94 gene mutations causing the abnormal nk cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP2 acid phosphatase 2, lysosomal
AIM2 absent in melanoma 2
APC adenomatous polyposis coli
ARID4A AT rich interactive domain 4A (RBP1-like)
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATF2 activating transcription factor 2
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
CARD11 caspase recruitment domain family, member 11
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CLK1 CDC-like kinase 1
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCR4 chemokine (C-X-C motif) receptor 4
DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
DKK3 dickkopf WNT signaling pathway inhibitor 3
E2F4 E2F transcription factor 4, p107/p130-binding
EBI3 Epstein-Barr virus induced 3
ELF4 E74-like factor 4 (ets domain transcription factor)
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EOMES eomesodermin
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
FARSA phenylalanyl-tRNA synthetase, alpha subunit
FAS Fas cell surface death receptor
FLT3 fms-related tyrosine kinase 3
FLT3LG fms-related tyrosine kinase 3 ligand
FOXO3 forkhead box O3
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GSE1 Gse1 coiled-coil protein
HBP1 HMG-box transcription factor 1
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
IDE insulin-degrading enzyme
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNE interferon, epsilon
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL15 interleukin 15
IL15RA interleukin 15 receptor, alpha
IL18 interleukin 18
IL2RG interleukin 2 receptor, gamma
IL6 interleukin 6
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRF1 interferon regulatory factor 1
JAK3 Janus kinase 3
KDM4C lysine (K)-specific demethylase 4C
KMT2E lysine (K)-specific methyltransferase 2E
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)
LEP leptin
LIMK2 LIM domain kinase 2
LTA lymphotoxin alpha
MIER1 mesoderm induction early response 1, transcriptional regulator
MMP12 matrix metallopeptidase 12
NCR1 natural cytotoxicity triggering receptor 1
NFIL3 nuclear factor, interleukin 3 regulated
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NIPAL3 NIPA-like domain containing 3
NLK nemo-like kinase
NPC2 Niemann-Pick disease, type C2
OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2
P2RX5 purinergic receptor P2X, ligand gated ion channel, 5
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
PTPRC protein tyrosine phosphatase, receptor type, C
PYCARD PYD and CARD domain containing
RAG1 recombination activating gene 1
RHBDD3 rhomboid domain containing 3
RHOH ras homolog family member H
RNASE10 ribonuclease, RNase A family, 10 (non-active)
RORC RAR-related orphan receptor C
S1PR1 sphingosine-1-phosphate receptor 1
S1PR5 sphingosine-1-phosphate receptor 5
SEPT8 septin 8
SETDB1 SET domain, bifurcated 1
SETMAR SET domain and mariner transposase fusion gene
SMS spermine synthase
SPNS2 spinster homolog 2 (Drosophila)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TBX21 T-box 21
TCF3 transcription factor 3
TMEM127 transmembrane protein 127
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TOX thymocyte selection-associated high mobility group box
TRDMT1 tRNA aspartic acid methyltransferase 1
TUSC2 tumor suppressor candidate 2
TXNIP thioredoxin interacting protein
WAS Wiskott-Aldrich syndrome
XPA xeroderma pigmentosum, complementation group A
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
ZBTB1 zinc finger and BTB domain containing 1
ZEB1 zinc finger E-box binding homeobox 1
ZNF205 zinc finger protein 205