abnormal erythrocyte cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description altered number of the cells that transport oxygen, red blood cells, per unit (Mammalian Phenotype Ontology, MP_0001586)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001586
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
AGO2 argonaute RISC catalytic component 2
AGTR1 angiotensin II receptor, type 1
ANK1 ankyrin 1, erythrocytic
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2
ARID4A AT rich interactive domain 4A (RBP1-like)
ATP11C ATPase, class VI, type 11C
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCL6B B-cell CLL/lymphoma 6, member B
BMP4 bone morphogenetic protein 4
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBX7 chromobox homolog 7
CCBE1 collagen and calcium binding EGF domains 1
CD33 CD33 molecule
CD59 CD59 molecule, complement regulatory protein
CDK6 cyclin-dependent kinase 6
CIAPIN1 cytokine induced apoptosis inhibitor 1
CLEC10A C-type lectin domain family 10, member A
CLK1 CDC-like kinase 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL4A5 collagen, type IV, alpha 5
CTNNA2 catenin (cadherin-associated protein), alpha 2
DAP death-associated protein
DCC DCC netrin 1 receptor
DIDO1 death inducer-obliterator 1
DNASE2 deoxyribonuclease II, lysosomal
E2F4 E2F transcription factor 4, p107/p130-binding
EGLN1 egl-9 family hypoxia-inducible factor 1
EP400 E1A binding protein p400
EPAS1 endothelial PAS domain protein 1
EPB42 erythrocyte membrane protein band 4.2
EPO erythropoietin
EPOR erythropoietin receptor
ERCC2 excision repair cross-complementation group 2
ESR2 estrogen receptor 2 (ER beta)
EXOC6 exocyst complex component 6
FAHD2B fumarylacetoacetate hydrolase domain containing 2B
FAM134C family with sequence similarity 134, member C
FAM53B family with sequence similarity 53, member B
FAM83G family with sequence similarity 83, member G
FBXL3 F-box and leucine-rich repeat protein 3
FBXO7 F-box protein 7
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FECH ferrochelatase
FERMT3 fermitin family member 3
FES FES proto-oncogene, tyrosine kinase
FGFRL1 fibroblast growth factor receptor-like 1
FOXO3 forkhead box O3
FOXP3 forkhead box P3
G6PD glucose-6-phosphate dehydrogenase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GFI1B growth factor independent 1B transcription repressor
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GPI glucose-6-phosphate isomerase
GSTA3 glutathione S-transferase alpha 3
HEPH hephaestin
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HK1 hexokinase 1
HMGB3 high mobility group box 3
HMGN5 high mobility group nucleosome binding domain 5
HMOX1 heme oxygenase 1
HOXB4 homeobox B4
HPRT1 hypoxanthine phosphoribosyltransferase 1
HYAL2 hyaluronoglucosaminidase 2
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL2 interleukin 2
IREB2 iron-responsive element binding protein 2
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JARID2 jumonji, AT rich interactive domain 2
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12
KDM8 lysine (K)-specific demethylase 8
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF1 Kruppel-like factor 1 (erythroid)
KLF13 Kruppel-like factor 13
KLF3 Kruppel-like factor 3 (basic)
KMT2A lysine (K)-specific methyltransferase 2A
KMT2E lysine (K)-specific methyltransferase 2E
LAMA4 laminin, alpha 4
LCN2 lipocalin 2
LDHA lactate dehydrogenase A
LGMN legumain
LIG1 ligase I, DNA, ATP-dependent
LMO2 LIM domain only 2 (rhombotin-like 1)
MAPRE3 microtubule-associated protein, RP/EB family, member 3
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MECOM MDS1 and EVI1 complex locus
MIR144 microRNA 144
MIR451A microRNA 451a
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MPV17 MpV17 mitochondrial inner membrane protein
MSI2 musashi RNA-binding protein 2
MTTP microsomal triglyceride transfer protein
MTUS1 microtubule associated tumor suppressor 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYO1C myosin IC
MYO1E myosin IE
MYSM1 Myb-like, SWIRM and MPN domains 1
NCOR1 nuclear receptor corepressor 1
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NLRP3 NLR family, pyrin domain containing 3
NPR3 natriuretic peptide receptor 3
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OSMR oncostatin M receptor
PBX1 pre-B-cell leukemia homeobox 1
PFDN1 prefoldin subunit 1
PGM3 phosphoglucomutase 3
PICALM phosphatidylinositol binding clathrin assembly protein
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PKLR pyruvate kinase, liver and RBC
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLCD1 phospholipase C, delta 1
POLG polymerase (DNA directed), gamma
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PRF1 perforin 1 (pore forming protein)
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRKCD protein kinase C, delta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRKG1 protein kinase, cGMP-dependent, type I
PTPN2 protein tyrosine phosphatase, non-receptor type 2
RAB27A RAB27A, member RAS oncogene family
RANBP10 RAN binding protein 10
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RB1 retinoblastoma 1
RIC1 RAB6A GEF complex partner 1
RPL27A ribosomal protein L27a
RUNX1 runt-related transcription factor 1
RXFP2 relaxin/insulin-like family peptide receptor 2
SCARF2 scavenger receptor class F, member 2
SENP1 SUMO1/sentrin specific peptidase 1
SGPL1 sphingosine-1-phosphate lyase 1
SIN3B SIN3 transcription regulator family member B
SIPA1 signal-induced proliferation-associated 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC38A10 solute carrier family 38, member 10
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
SLX4 SLX4 structure-specific endonuclease subunit
SOCS3 suppressor of cytokine signaling 3
SOD1 superoxide dismutase 1, soluble
SPI1 Spi-1 proto-oncogene
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SRSF4 serine/arginine-rich splicing factor 4
STEAP3 STEAP family member 3, metalloreductase
STX11 syntaxin 11
SYTL1 synaptotagmin-like 1
TCHP trichoplein, keratin filament binding
TET2 tet methylcytosine dioxygenase 2
TF transferrin
TFRC transferrin receptor
TGM2 transglutaminase 2
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM189 transmembrane protein 189
TMOD3 tropomodulin 3 (ubiquitous)
TMPRSS6 transmembrane protease, serine 6
TNRC6A trinucleotide repeat containing 6A
TP53 tumor protein p53
TPO thyroid peroxidase
TSPAN33 tetraspanin 33
TTC7A tetratricopeptide repeat domain 7A
TTLL1 tubulin tyrosine ligase-like family member 1
TUSC2 tumor suppressor candidate 2
TWSG1 twisted gastrulation BMP signaling modulator 1
USP3 ubiquitin specific peptidase 3
USP38 ubiquitin specific peptidase 38
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
XBP1 X-box binding protein 1
ZFP36L2 ZFP36 ring finger protein-like 2
ZFPM1 zinc finger protein, FOG family member 1