abnormal mature b cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex (Mammalian Phenotype Ontology, MP_0008171)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008171
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Genes

230 gene mutations causing the abnormal mature b cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACKR3 atypical chemokine receptor 3
AFF1 AF4/FMR2 family, member 1
AICDA activation-induced cytidine deaminase
AIRE autoimmune regulator
AKAP9 A kinase (PRKA) anchor protein 9
APOE apolipoprotein E
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)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
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
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
CARD11 caspase recruitment domain family, member 11
CCDC171 coiled-coil domain containing 171
CCR6 chemokine (C-C motif) receptor 6
CD19 CD19 molecule
CD22 CD22 molecule
CD274 CD274 molecule
CD4 CD4 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD5 CD5 molecule
CD72 CD72 molecule
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)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CLK1 CDC-like kinase 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTCF CCCTC-binding factor (zinc finger protein)
CXCR4 chemokine (C-X-C motif) receptor 4
CYLD cylindromatosis (turban tumor syndrome)
DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides
DCLRE1C DNA cross-link repair 1C
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
EPS15 epidermal growth factor receptor pathway substrate 15
ESR1 estrogen receptor 1
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
EWSR1 EWS RNA-binding protein 1
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBN1 fibrillin 1
FCAMR Fc receptor, IgA, IgM, high affinity
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCMR Fc fragment of IgM receptor
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLT3 fms-related tyrosine kinase 3
FNIP1 folliculin interacting protein 1
FOXP1 forkhead box P1
GALNT1 polypeptide N-acetylgalactosaminyltransferase 1
GAPT GRB2-binding adaptor protein, transmembrane
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GPR183 G protein-coupled receptor 183
HAX1 HCLS1 associated protein X-1
ICOS inducible T-cell co-stimulator
IFNB1 interferon, beta 1, fibroblast
IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker)
IGHM immunoglobulin heavy constant mu
IGKC immunoglobulin kappa constant
IGLL1 immunoglobulin lambda-like polypeptide 1
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
IL5 interleukin 5
IL5RA interleukin 5 receptor, alpha
IL6ST interleukin 6 signal transducer
IL7R interleukin 7 receptor
IRF2 interferon regulatory factor 2
IRF4 interferon regulatory factor 4
IRF8 interferon regulatory factor 8
ITK IL2-inducible T-cell kinase
JAK1 Janus kinase 1
JAK3 Janus kinase 3
JCHAIN joining chain of multimeric IgA and IgM
KLHL6 kelch-like family member 6
KPTN kaptin (actin binding protein)
LAIR1 leukocyte-associated immunoglobulin-like receptor 1
LAT linker for activation of T cells
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)
LYN LYN proto-oncogene, Src family tyrosine kinase
MADCAM1 mucosal vascular addressin cell adhesion molecule 1
MALT1 MALT1 paracaspase
MAML1 mastermind-like 1 (Drosophila)
MCF2L MCF.2 cell line derived transforming sequence-like
MED18 mediator complex subunit 18
MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
MIR150 microRNA 150
MIR155 microRNA 155
MIR210 microRNA 210
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)
MYB v-myb avian myeloblastosis viral oncogene homolog
MYSM1 Myb-like, SWIRM and MPN domains 1
MYT1L myelin transcription factor 1-like
NBN nibrin
NCKAP1L NCK-associated protein 1-like
NEDD9 neural precursor cell expressed, developmentally down-regulated 9
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
NOTCH2 notch 2
NPY1R neuropeptide Y receptor Y1
NR1D2 nuclear receptor subfamily 1, group D, member 2
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
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
PNP purine nucleoside phosphorylase
POLB polymerase (DNA directed), beta
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
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)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRJ protein tyrosine phosphatase, receptor type, J
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
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
RGS1 regulator of G-protein signaling 1
RGS13 regulator of G-protein signaling 13
RIC1 RAB6A GEF complex partner 1
RRAS2 related RAS viral (r-ras) oncogene homolog 2
S1PR2 sphingosine-1-phosphate receptor 2
SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1
SASH3 SAM and SH3 domain containing 3
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SEPT8 septin 8
SFN stratifin
SH2B2 SH2B adaptor protein 2
SH2D1A SH2 domain containing 1A
SH2D3C SH2 domain containing 3C
SH3BP2 SH3-domain binding protein 2
SIAE sialic acid acetylesterase
SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin
SIGLEC10 sialic acid binding Ig-like lectin 10
SOCS1 suppressor of cytokine signaling 1
SPI1 Spi-1 proto-oncogene
SPNS2 spinster homolog 2 (Drosophila)
SPPL2A signal peptide peptidase like 2A
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
THEMIS thymocyte selection associated
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
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
TP53BP1 tumor protein p53 binding protein 1
TRAF3 TNF receptor-associated factor 3
TRAF3IP2 TRAF3 interacting protein 2
TYROBP TYRO protein tyrosine kinase binding protein
UNC93B1 unc-93 homolog B1 (C. elegans)
VAV1 vav 1 guanine nucleotide exchange factor
VAV2 vav 2 guanine nucleotide exchange factor
WAS Wiskott-Aldrich syndrome
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZBTB1 zinc finger and BTB domain containing 1
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