abnormal b cell differentiation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description atypical production of or inability to produce mature B cells, and/or accumulation of B cell precursors (Mammalian Phenotype Ontology, MP_0002144)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002144
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Genes

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

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
AICDA activation-induced cytidine deaminase
AKAP13 A kinase (PRKA) anchor protein 13
APLF aprataxin and PNKP like factor
APOE apolipoprotein E
AR androgen receptor
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta
ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ARID5B AT rich interactive domain 5B (MRF1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATM ATM serine/threonine kinase
ATP11C ATPase, class VI, type 11C
AVPR1A arginine vasopressin receptor 1A
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
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
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
BTLA B and T lymphocyte associated
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CARD11 caspase recruitment domain family, member 11
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3
CCND3 cyclin D3
CCR7 chemokine (C-C motif) receptor 7
CCR9 chemokine (C-C motif) receptor 9
CD19 CD19 molecule
CD22 CD22 molecule
CD28 CD28 molecule
CD300C CD300c molecule
CD36 CD36 molecule (thrombospondin receptor)
CD37 CD37 molecule
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD40LG CD40 ligand
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
CD80 CD80 molecule
CD81 CD81 molecule
CDH17 cadherin 17, LI cadherin (liver-intestine)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
COMMD3-BMI1 COMMD3-BMI1 readthrough
CR2 complement component (3d/Epstein Barr virus) receptor 2
CREBBP CREB binding protein
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
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
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DEF6 differentially expressed in FDCP 6 homolog (mouse)
DLK1 delta-like 1 homolog (Drosophila)
DOCK2 dedicator of cytokinesis 2
DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1)
DTX1 deltex 1, E3 ubiquitin ligase
EBF1 early B-cell factor 1
ELF1 E74-like factor 1 (ets domain transcription factor)
ELF4 E74-like factor 4 (ets domain transcription factor)
EPS15 epidermal growth factor receptor pathway substrate 15
ERCC1 excision repair cross-complementation group 1
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ERN1 endoplasmic reticulum to nucleus signaling 1
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
EXO1 exonuclease 1
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBXO7 F-box protein 7
FCAMR Fc receptor, IgA, IgM, high affinity
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
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
FOXP1 forkhead box P1
FZD9 frizzled class receptor 9
GABPB2 GA binding protein transcription factor, beta subunit 2
GAPT GRB2-binding adaptor protein, transmembrane
GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GON4L gon-4-like (C. elegans)
GPR132 G protein-coupled receptor 132
H2AFX H2A histone family, member X
HAX1 HCLS1 associated protein X-1
HOXC4 homeobox C4
HRH1 histamine receptor H1
HSD17B11 hydroxysteroid (17-beta) dehydrogenase 11
HTRA2 HtrA serine peptidase 2
ICOS inducible T-cell co-stimulator
ICOSLG inducible T-cell co-stimulator ligand
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein
IFNB1 interferon, beta 1, fibroblast
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1)
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
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL12RB2 interleukin 12 receptor, beta 2
IL2 interleukin 2
IL21 interleukin 21
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL5RA interleukin 5 receptor, alpha
IL6 interleukin 6
IL7 interleukin 7
IL7R interleukin 7 receptor
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK4 interleukin-1 receptor-associated kinase 4
IRF2 interferon regulatory factor 2
IRF4 interferon regulatory factor 4
IRF8 interferon regulatory factor 8
ITFG2 integrin alpha FG-GAP repeat containing 2
JAK1 Janus kinase 1
JAK3 Janus kinase 3
KAT6A K(lysine) acetyltransferase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLHL6 kelch-like family member 6
KMT2A lysine (K)-specific methyltransferase 2A
KMT2E lysine (K)-specific methyltransferase 2E
LAT linker for activation of T cells
LIG4 ligase IV, DNA, ATP-dependent
LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3
LTA lymphotoxin alpha
LTB lymphotoxin beta (TNF superfamily, member 3)
LY86 lymphocyte antigen 86
LY96 lymphocyte antigen 96
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1
LYN LYN proto-oncogene, Src family tyrosine kinase
MALT1 MALT1 paracaspase
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MARK2 MAP/microtubule affinity-regulating kinase 2
MAVS mitochondrial antiviral signaling protein
MDC1 mediator of DNA-damage checkpoint 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIR155 microRNA 155
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
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
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYD88 myeloid differentiation primary response 88
NCOA3 nuclear receptor coactivator 3
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)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBID nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta
NHEJ1 nonhomologous end-joining factor 1
NLK nemo-like kinase
NPY1R neuropeptide Y receptor Y1
ORAI1 ORAI calcium release-activated calcium modulator 1
OTUD7B OTU deubiquitinase 7B
PARP14 poly (ADP-ribose) polymerase family, member 14
PAWR PRKC, apoptosis, WT1, regulator
PAX5 paired box 5
PCNA proliferating cell nuclear antigen
PDCD1 programmed cell death 1
PELI1 pellino E3 ubiquitin protein ligase 1
PFDN1 prefoldin subunit 1
PGAP3 post-GPI attachment to proteins 3
PGM3 phosphoglucomutase 3
PHC1 polyhomeotic homolog 1 (Drosophila)
PICALM phosphatidylinositol binding clathrin assembly protein
PIK3AP1 phosphoinositide-3-kinase adaptor protein 1
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKN1 protein kinase N1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLCL2 phospholipase C-like 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
POLB polymerase (DNA directed), beta
POLL polymerase (DNA directed), lambda
POLM polymerase (DNA directed), mu
POLQ polymerase (DNA directed), theta
POU2AF1 POU class 2 associating factor 1
POU2F2 POU class 2 homeobox 2
PPARG peroxisome proliferator-activated receptor gamma
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRKCB protein kinase C, beta
PRKCD protein kinase C, delta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRCAP protein tyrosine phosphatase, receptor type, C-associated protein
PTPRJ protein tyrosine phosphatase, receptor type, J
RAD50 RAD50 homolog (S. cerevisiae)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 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
REV1 REV1, polymerase (DNA directed)
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RGS13 regulator of G-protein signaling 13
RHOG ras homolog family member G
RIF1 replication timing regulatory factor 1
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RRAS2 related RAS viral (r-ras) oncogene homolog 2
RUVBL2 RuvB-like AAA ATPase 2
S1PR2 sphingosine-1-phosphate receptor 2
SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2
SFN stratifin
SH2B2 SH2B adaptor protein 2
SH2D1A SH2 domain containing 1A
SH3BP2 SH3-domain binding protein 2
SIAE sialic acid acetylesterase
SIGLEC10 sialic acid binding Ig-like lectin 10
SIRT6 sirtuin 6
SKAP2 src kinase associated phosphoprotein 2
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase
SLPI secretory leukocyte peptidase inhibitor
SMAD3 SMAD family member 3
SMAD7 SMAD family member 7
SOX4 SRY (sex determining region Y)-box 4
SP3 Sp3 transcription factor
SPEN spen family transcriptional repressor
SPI1 Spi-1 proto-oncogene
SPIB Spi-B transcription factor (Spi-1/PU.1 related)
SPNS2 spinster homolog 2 (Drosophila)
SPPL2A signal peptide peptidase like 2A
SPTA1 spectrin, alpha, erythrocytic 1
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
SWAP70 SWAP switching B-cell complex 70kDa subunit
SYK spleen tyrosine kinase
TAC4 tachykinin 4 (hemokinin)
TANK TRAF family member-associated NFKB activator
TCF12 transcription factor 12
TCF3 transcription factor 3
TCF4 transcription factor 4
TDP2 tyrosyl-DNA phosphodiesterase 2
TERC telomerase RNA component
TET2 tet methylcytosine dioxygenase 2
TICAM1 toll-like receptor adaptor molecule 1
TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNIP1 TNFAIP3 interacting protein 1
TP53 tumor protein p53
TP53BP1 tumor protein p53 binding protein 1
TRAF2 TNF receptor-associated factor 2
TRAF3 TNF receptor-associated factor 3
TRAF3IP2 TRAF3 interacting protein 2
TRAF5 TNF receptor-associated factor 5
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TSHR thyroid stimulating hormone receptor
TWSG1 twisted gastrulation BMP signaling modulator 1
TYROBP TYRO protein tyrosine kinase binding protein
UBE2N ubiquitin-conjugating enzyme E2N
UNC93B1 unc-93 homolog B1 (C. elegans)
UNG uracil-DNA glycosylase
VAV1 vav 1 guanine nucleotide exchange factor
VAV2 vav 2 guanine nucleotide exchange factor
VPREB1 pre-B lymphocyte 1
WIPF1 WAS/WASL interacting protein family, member 1
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
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
ZEB1 zinc finger E-box binding homeobox 1