enlarged spleen Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000691
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Genes

326 gene mutations causing the enlarged spleen phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACKR4 atypical chemokine receptor 4
ADD2 adducin 2 (beta)
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AHR aryl hydrocarbon receptor
AHSP alpha hemoglobin stabilizing protein
AIRE autoimmune regulator
ALOX15 arachidonate 15-lipoxygenase
ANK1 ankyrin 1, erythrocytic
APOE apolipoprotein E
ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1
ARID4A AT rich interactive domain 4A (RBP1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
AZGP1 alpha-2-glycoprotein 1, zinc-binding
B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCL6 B-cell CLL/lymphoma 6
BCO2 beta-carotene oxygenase 2
BHLHE40 basic helix-loop-helix family, member e40
BIN3 bridging integrator 3
BLNK B-cell linker
BMF Bcl2 modifying factor
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
BOK BCL2-related ovarian killer
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BST2 bone marrow stromal cell antigen 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C4A complement component 4A (Rodgers blood group)
C6ORF25 chromosome 6 open reading frame 25
CARD11 caspase recruitment domain family, member 11
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCNE1 cyclin E1
CCR2 chemokine (C-C motif) receptor 2
CCR7 chemokine (C-C motif) receptor 7
CD247 CD247 molecule
CD47 CD47 molecule
CD72 CD72 molecule
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD2 chromodomain helicase DNA binding protein 2
CISH cytokine inducible SH2-containing protein
CORO1A coronin, actin binding protein, 1A
CREBBP CREB binding protein
CSF1R colony stimulating factor 1 receptor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSA cathepsin A
CTSG cathepsin G
CXCR2 chemokine (C-X-C motif) receptor 2
CYCS cytochrome c, somatic
CYLD cylindromatosis (turban tumor syndrome)
DBNL drebrin-like
DCC DCC netrin 1 receptor
DCK deoxycytidine kinase
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DEF6 differentially expressed in FDCP 6 homolog (mouse)
DIAPH1 diaphanous-related formin 1
DIDO1 death inducer-obliterator 1
DKC1 dyskeratosis congenita 1, dyskerin
DNASE1 deoxyribonuclease I
DTX1 deltex 1, E3 ubiquitin ligase
DUSP6 dual specificity phosphatase 6
E2F2 E2F transcription factor 2
EGLN1 egl-9 family hypoxia-inducible factor 1
EGR1 early growth response 1
EPAS1 endothelial PAS domain protein 1
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
EPGN epithelial mitogen
EPO erythropoietin
ERAP1 endoplasmic reticulum aminopeptidase 1
ERCC2 excision repair cross-complementation group 2
ESR2 estrogen receptor 2 (ER beta)
EXOC6 exocyst complex component 6
F9 coagulation factor IX
FADS2 fatty acid desaturase 2
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FECH ferrochelatase
FEN1 flap structure-specific endonuclease 1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLT3 fms-related tyrosine kinase 3
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXO3 forkhead box O3
FOXP3 forkhead box P3
FSHR follicle stimulating hormone receptor
FZD9 frizzled class receptor 9
GADD45B growth arrest and DNA-damage-inducible, beta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GLMP glycosylated lysosomal membrane protein
GPI glucose-6-phosphate isomerase
GPR132 G protein-coupled receptor 132
GPR83 G protein-coupled receptor 83
GPX7 glutathione peroxidase 7
HAVCR1 hepatitis A virus cellular receptor 1
HCST hematopoietic cell signal transducer
HK1 hexokinase 1
HMGA1 high mobility group AT-hook 1
HMOX1 heme oxygenase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSH2D hematopoietic SH2 domain containing
IFNG interferon, gamma
IGHM immunoglobulin heavy constant mu
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL10 interleukin 10
IL10RB interleukin 10 receptor, beta
IL2 interleukin 2
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL6ST interleukin 6 signal transducer
ING1 inhibitor of growth family, member 1
ING2 inhibitor of growth family, member 2
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRF4 interferon regulatory factor 4
IRF8 interferon regulatory factor 8
ITFG2 integrin alpha FG-GAP repeat containing 2
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGAD integrin, alpha D
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF1 Kruppel-like factor 1 (erythroid)
KLF13 Kruppel-like factor 13
KLF3 Kruppel-like factor 3 (basic)
KMT2A lysine (K)-specific methyltransferase 2A
KRT8 keratin 8, type II
LAG3 lymphocyte-activation gene 3
LAT linker for activation of T cells
LAT2 linker for activation of T cells family, member 2
LCN2 lipocalin 2
LDHA lactate dehydrogenase A
LEPR leptin receptor
LGMN legumain
LHCGR luteinizing hormone/choriogonadotropin receptor
LIG1 ligase I, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LTA lymphotoxin alpha
LTB lymphotoxin beta (TNF superfamily, member 3)
LTBP4 latent transforming growth factor beta binding protein 4
LTBR lymphotoxin beta receptor (TNFR superfamily, member 3)
LYN LYN proto-oncogene, Src family tyrosine kinase
LYZ lysozyme
MAN2A1 mannosidase, alpha, class 2A, member 1
MARK2 MAP/microtubule affinity-regulating kinase 2
MARVELD2 MARVEL domain containing 2
MAVS mitochondrial antiviral signaling protein
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCM2 minichromosome maintenance complex component 2
MCM4 minichromosome maintenance complex component 4
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEFV Mediterranean fever
MERTK MER proto-oncogene, tyrosine kinase
MFGE8 milk fat globule-EGF factor 8 protein
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIR144 microRNA 144
MIR451A microRNA 451a
MPL MPL proto-oncogene, thrombopoietin receptor
MST1R macrophage stimulating 1 receptor
MTSS1 metastasis suppressor 1
MXI1 MAX interactor 1, dimerization protein
MYB v-myb avian myeloblastosis viral oncogene homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
NBEAL2 neurobeachin-like 2
NCKAP1L NCK-associated protein 1-like
NCOA3 nuclear receptor coactivator 3
NCOR2 nuclear receptor corepressor 2
NDFIP1 Nedd4 family interacting protein 1
NEU1 sialidase 1 (lysosomal sialidase)
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NFE2 nuclear factor, erythroid 2
NFE2L2 nuclear factor, erythroid 2-like 2
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)
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NLRC5 NLR family, CARD domain containing 5
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR1H4 nuclear receptor subfamily 1, group H, member 4
OCA2 oculocutaneous albinism II
PAPPA2 pappalysin 2
PAWR PRKC, apoptosis, WT1, regulator
PCSK1 proprotein convertase subtilisin/kexin type 1
PDCD1 programmed cell death 1
PFKM phosphofructokinase, muscle
PGM3 phosphoglucomutase 3
PICALM phosphatidylinositol binding clathrin assembly protein
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PLA2G15 phospholipase A2, group XV
PLCD1 phospholipase C, delta 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
POLE polymerase (DNA directed), epsilon, catalytic subunit
PPIA peptidylprolyl isomerase A (cyclophilin A)
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1R15A protein phosphatase 1, regulatory subunit 15A
PPP5C protein phosphatase 5, catalytic subunit
PPT2 palmitoyl-protein thioesterase 2
PRDX1 peroxiredoxin 1
PRDX2 peroxiredoxin 2
PREP prolyl endopeptidase
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRKCD protein kinase C, delta
PRKG1 protein kinase, cGMP-dependent, type I
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
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
RAD50 RAD50 homolog (S. cerevisiae)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6
RASA3 RAS p21 protein activator 3
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RASSF5 Ras association (RalGDS/AF-6) domain family member 5
RC3H1 ring finger and CCCH-type domains 1
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RNF128 ring finger protein 128, E3 ubiquitin protein ligase
RORC RAR-related orphan receptor C
RUNX2 runt-related transcription factor 2
SAC3D1 SAC3 domain containing 1
SAMD9L sterile alpha motif domain containing 9-like
SCARF1 scavenger receptor class F, member 1
SELL selectin L
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SGSH N-sulfoglucosamine sulfohydrolase
SH2B3 SH2B adaptor protein 3
SHARPIN SHANK-associated RH domain interactor
SIPA1 signal-induced proliferation-associated 1
SIRT1 sirtuin 1
SKIL SKI-like proto-oncogene
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMAP1 small ArfGAP 1
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMURF2 SMAD specific E3 ubiquitin protein ligase 2
SNORD50A small nucleolar RNA, C/D box 50A
SNORD50B small nucleolar RNA, C/D box 50B
SOCS3 suppressor of cytokine signaling 3
SOS1 son of sevenless homolog 1 (Drosophila)
SPI1 Spi-1 proto-oncogene
SPIC Spi-C transcription factor (Spi-1/PU.1 related)
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SRPX sushi-repeat containing protein, X-linked
STEAP3 STEAP family member 3, metalloreductase
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
TAL1 T-cell acute lymphocytic leukemia 1
TANK TRAF family member-associated NFKB activator
TBK1 TANK-binding kinase 1
TBXA2R thromboxane A2 receptor
TET2 tet methylcytosine dioxygenase 2
TGFBI transforming growth factor, beta-induced, 68kDa
TLR4 toll-like receptor 4
TLR8 toll-like receptor 8
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNIP1 TNFAIP3 interacting protein 1
TOM1L2 target of myb1-like 2 (chicken)
TOP3B topoisomerase (DNA) III beta
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TPP2 tripeptidyl peptidase II
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TRIM21 tripartite motif containing 21
TSPAN33 tetraspanin 33
TTC7A tetratricopeptide repeat domain 7A
ULK1 unc-51 like autophagy activating kinase 1
UNC13D unc-13 homolog D (C. elegans)
UNC93B1 unc-93 homolog B1 (C. elegans)
UNG uracil-DNA glycosylase
UROS uroporphyrinogen III synthase
USP21 ubiquitin specific peptidase 21
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WAS Wiskott-Aldrich syndrome
WWOX WW domain containing oxidoreductase
ZC3H12A zinc finger CCCH-type containing 12A
ZDHHC13 zinc finger, DHHC-type containing 13
ZFP36 ZFP36 ring finger protein
ZFPM1 zinc finger protein, FOG family member 1