abnormal b cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation from the normal count of cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells; these cells are involved in humoral immunity (Mammalian Phenotype Ontology, MP_0002458)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002458
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Genes

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

Symbol Name
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACKR3 atypical chemokine receptor 3
ACSL3 acyl-CoA synthetase long-chain family member 3
AFF1 AF4/FMR2 family, member 1
AICDA activation-induced cytidine deaminase
AIRE autoimmune regulator
AKAP13 A kinase (PRKA) anchor protein 13
AKAP9 A kinase (PRKA) anchor protein 9
AMPD3 adenosine monophosphate deaminase 3
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2
APOE apolipoprotein E
AR androgen receptor
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta
ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ARID4A AT rich interactive domain 4A (RBP1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
ATP11C ATPase, class VI, type 11C
AVPR1A arginine vasopressin receptor 1A
B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2
BAD BCL2-associated agonist of cell death
BANK1 B-cell scaffold protein with ankyrin repeats 1
BATF basic leucine zipper transcription factor, ATF-like
BAX BCL2-associated X protein
BCL10 B-cell CLL/lymphoma 10
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCL3 B-cell CLL/lymphoma 3
BCL6 B-cell CLL/lymphoma 6
BCLAF1 BCL2-associated transcription factor 1
BIRC3 baculoviral IAP repeat containing 3
BLNK B-cell linker
BMF Bcl2 modifying factor
BST1 bone marrow stromal cell antigen 1
BTK Bruton agammaglobulinemia tyrosine kinase
C10ORF11 chromosome 10 open reading frame 11
C1ORF198 chromosome 1 open reading frame 198
CARD11 caspase recruitment domain family, member 11
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3
CCDC171 coiled-coil domain containing 171
CCND3 cyclin D3
CCR2 chemokine (C-C motif) receptor 2
CCR6 chemokine (C-C motif) receptor 6
CD19 CD19 molecule
CD22 CD22 molecule
CD274 CD274 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD4 CD4 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD5 CD5 molecule
CD69 CD69 molecule
CD72 CD72 molecule
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD84 CD84 molecule
CDH17 cadherin 17, LI cadherin (liver-intestine)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CDS2 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CHST1 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1
CLEC10A C-type lectin domain family 10, member A
CLK1 CDC-like kinase 1
COL10A1 collagen, type X, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CORO1A coronin, actin binding protein, 1A
CR2 complement component (3d/Epstein Barr virus) receptor 2
CREBBP CREB binding protein
CRLF2 cytokine receptor-like factor 2
CSF1 colony stimulating factor 1 (macrophage)
CTCF CCCTC-binding factor (zinc finger protein)
CUX1 cut-like homeobox 1
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR4 chemokine (C-X-C motif) receptor 4
CXCR5 chemokine (C-X-C motif) receptor 5
CYCS cytochrome c, somatic
CYLD cylindromatosis (turban tumor syndrome)
DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides
DCK deoxycytidine kinase
DCLRE1C DNA cross-link repair 1C
DEF6 differentially expressed in FDCP 6 homolog (mouse)
DGKZ diacylglycerol kinase, zeta
DKC1 dyskeratosis congenita 1, dyskerin
DLK1 delta-like 1 homolog (Drosophila)
DLL1 delta-like 1 (Drosophila)
DOCK2 dedicator of cytokinesis 2
DOCK8 dedicator of cytokinesis 8
DTX1 deltex 1, E3 ubiquitin ligase
EBF1 early B-cell factor 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
ELF4 E74-like factor 4 (ets domain transcription factor)
ELMOD1 ELMO/CED-12 domain containing 1
EP300 E1A binding protein p300
EPS15 epidermal growth factor receptor pathway substrate 15
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
EWSR1 EWS RNA-binding protein 1
F3 coagulation factor III (thromboplastin, tissue factor)
FAM104A family with sequence similarity 104, member A
FAM63A family with sequence similarity 63, member A
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBN1 fibrillin 1
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCMR Fc fragment of IgM receptor
FES FES proto-oncogene, tyrosine kinase
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLT3 fms-related tyrosine kinase 3
FLT3LG fms-related tyrosine kinase 3 ligand
FNIP1 folliculin interacting protein 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXN1 forkhead box N1
FOXP1 forkhead box P1
FSHR follicle stimulating hormone receptor
FUS FUS RNA binding protein
FZD9 frizzled class receptor 9
GALNT1 polypeptide N-acetylgalactosaminyltransferase 1
GALR2 galanin receptor 2
GAPT GRB2-binding adaptor protein, transmembrane
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GFI1 growth factor independent 1 transcription repressor
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GON4L gon-4-like (C. elegans)
GPR183 G protein-coupled receptor 183
H2AFX H2A histone family, member X
HAX1 HCLS1 associated protein X-1
HCLS1 hematopoietic cell-specific Lyn substrate 1
HELLS helicase, lymphoid-specific
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B11 hydroxysteroid (17-beta) dehydrogenase 11
HTRA2 HtrA serine peptidase 2
ICOS inducible T-cell co-stimulator
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein
IFNB1 interferon, beta 1, fibroblast
IGHD immunoglobulin heavy constant delta
IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker)
IGHM immunoglobulin heavy constant mu
IGKC immunoglobulin kappa constant
IGLC1 immunoglobulin lambda constant 1 (Mcg marker)
IGLL1 immunoglobulin lambda-like polypeptide 1
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
IL2 interleukin 2
IL21 interleukin 21
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL5RA interleukin 5 receptor, alpha
IL6ST interleukin 6 signal transducer
IL7 interleukin 7
IL7R interleukin 7 receptor
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRF2 interferon regulatory factor 2
IRF4 interferon regulatory factor 4
IRF8 interferon regulatory factor 8
ITFG2 integrin alpha FG-GAP repeat containing 2
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
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)
ITGB7 integrin, beta 7
ITK IL2-inducible T-cell kinase
JAK1 Janus kinase 1
JAK3 Janus kinase 3
JCHAIN joining chain of multimeric IgA and IgM
KAT6A K(lysine) acetyltransferase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
KLHL6 kelch-like family member 6
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KMT2A lysine (K)-specific methyltransferase 2A
KMT2E lysine (K)-specific methyltransferase 2E
KPTN kaptin (actin binding protein)
LAIR1 leukocyte-associated immunoglobulin-like receptor 1
LAT linker for activation of T cells
LBR lamin B receptor
LCN2 lipocalin 2
LIG4 ligase IV, DNA, ATP-dependent
LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase
LTA lymphotoxin alpha
LTB lymphotoxin beta (TNF superfamily, member 3)
LTBR lymphotoxin beta receptor (TNFR superfamily, member 3)
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1
LYN LYN proto-oncogene, Src family tyrosine kinase
MADCAM1 mucosal vascular addressin cell adhesion molecule 1
MALT1 MALT1 paracaspase
MAML1 mastermind-like 1 (Drosophila)
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MARK2 MAP/microtubule affinity-regulating kinase 2
MCF2L MCF.2 cell line derived transforming sequence-like
MCPH1 microcephalin 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MED18 mediator complex subunit 18
MEFV Mediterranean fever
MIR150 microRNA 150
MIR155 microRNA 155
MIR210 microRNA 210
MPZL2 myelin protein zero-like 2
MRAS muscle RAS oncogene homolog
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSI2 musashi RNA-binding protein 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTSS1 metastasis suppressor 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYL12A myosin, light chain 12A, regulatory, non-sarcomeric
MYO1G myosin IG
MYSM1 Myb-like, SWIRM and MPN domains 1
MYT1L myelin transcription factor 1-like
NBN nibrin
NCKAP1L NCK-associated protein 1-like
NCOA3 nuclear receptor coactivator 3
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
NEDD9 neural precursor cell expressed, developmentally down-regulated 9
NF1 neurofibromin 1
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 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)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta
NFKBID nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta
NKX2-3 NK2 homeobox 3
NLRP6 NLR family, pyrin domain containing 6
NOTCH2 notch 2
NPY1R neuropeptide Y receptor Y1
NR1D2 nuclear receptor subfamily 1, group D, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NUP98 nucleoporin 98kDa
OTUD7B OTU deubiquitinase 7B
PARL presenilin associated, rhomboid-like
PARP14 poly (ADP-ribose) polymerase family, member 14
PARVB parvin, beta
PAX5 paired box 5
PBX1 pre-B-cell leukemia homeobox 1
PDCD1 programmed cell death 1
PEX3 peroxisomal biogenesis factor 3
PFDN1 prefoldin subunit 1
PGM3 phosphoglucomutase 3
PIK3AP1 phosphoinositide-3-kinase adaptor protein 1
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKN1 protein kinase N1
PLCD1 phospholipase C, delta 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLCL2 phospholipase C-like 2
PNP purine nucleoside phosphorylase
POLB polymerase (DNA directed), beta
POLM polymerase (DNA directed), mu
POU1F1 POU class 1 homeobox 1
POU2AF1 POU class 2 associating factor 1
POU2F2 POU class 2 homeobox 2
PRDM1 PR domain containing 1, with ZNF domain
PRKCB protein kinase C, beta
PRKCD protein kinase C, delta
PRKCH protein kinase C, eta
PRKCZ protein kinase C, zeta
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
PTPRJ protein tyrosine phosphatase, receptor type, J
RAD50 RAD50 homolog (S. cerevisiae)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RASA3 RAS p21 protein activator 3
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated)
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RASSF5 Ras association (RalGDS/AF-6) domain family member 5
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RGS1 regulator of G-protein signaling 1
RGS13 regulator of G-protein signaling 13
RGS3 regulator of G-protein signaling 3
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIC1 RAB6A GEF complex partner 1
RNASE10 ribonuclease, RNase A family, 10 (non-active)
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RPL22 ribosomal protein L22
RRAS related RAS viral (r-ras) oncogene homolog
RRAS2 related RAS viral (r-ras) oncogene homolog 2
RUNX2 runt-related transcription factor 2
S1PR1 sphingosine-1-phosphate receptor 1
S1PR2 sphingosine-1-phosphate receptor 2
SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1
SASH3 SAM and SH3 domain containing 3
SCARF1 scavenger receptor class F, member 1
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SEPT8 septin 8
SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2
SFN stratifin
SGPL1 sphingosine-1-phosphate lyase 1
SH2B2 SH2B adaptor protein 2
SH2B3 SH2B adaptor protein 3
SH2D1A SH2 domain containing 1A
SH2D3C SH2 domain containing 3C
SH3BP2 SH3-domain binding protein 2
SHARPIN SHANK-associated RH domain interactor
SHCBP1 SHC SH2-domain binding protein 1
SIAE sialic acid acetylesterase
SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin
SIGLEC10 sialic acid binding Ig-like lectin 10
SLCO1A2 solute carrier organic anion transporter family, member 1A2
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SOCS1 suppressor of cytokine signaling 1
SOX4 SRY (sex determining region Y)-box 4
SPHK1 sphingosine kinase 1
SPHK2 sphingosine kinase 2
SPI1 Spi-1 proto-oncogene
SPNS2 spinster homolog 2 (Drosophila)
SPPL2A signal peptide peptidase like 2A
SPTA1 spectrin, alpha, erythrocytic 1
SSBP2 single-stranded DNA binding protein 2
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1
STK4 serine/threonine kinase 4
SYK spleen tyrosine kinase
SYTL1 synaptotagmin-like 1
TANK TRAF family member-associated NFKB activator
TCF12 transcription factor 12
TCF3 transcription factor 3
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TET2 tet methylcytosine dioxygenase 2
TGFBI transforming growth factor, beta-induced, 68kDa
THEMIS thymocyte selection associated
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TMC6 transmembrane channel-like 6
TMEM189 transmembrane protein 189
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
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF17 tumor necrosis factor receptor superfamily, member 17
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TNIP1 TNFAIP3 interacting protein 1
TOM1L2 target of myb1-like 2 (chicken)
TP53BP1 tumor protein p53 binding protein 1
TRAF2 TNF receptor-associated factor 2
TRAF3 TNF receptor-associated factor 3
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIB2 tribbles pseudokinase 2
TSHR thyroid stimulating hormone receptor
TWSG1 twisted gastrulation BMP signaling modulator 1
TYROBP TYRO protein tyrosine kinase binding protein
UNC93B1 unc-93 homolog B1 (C. elegans)
URI1 URI1, prefoldin-like chaperone
VAV1 vav 1 guanine nucleotide exchange factor
VAV2 vav 2 guanine nucleotide exchange factor
VCAM1 vascular cell adhesion molecule 1
VPREB1 pre-B lymphocyte 1
WAS Wiskott-Aldrich syndrome
WDR37 WD repeat domain 37
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB1 zinc finger and BTB domain containing 1
ZBTB7A zinc finger and BTB domain containing 7A
ZC3H12A zinc finger CCCH-type containing 12A
ZC3HC1 zinc finger, C3HC-type containing 1
ZEB1 zinc finger E-box binding homeobox 1
ZNF318 zinc finger protein 318
ZNF335 zinc finger protein 335