abnormal mean corpuscular volume Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation from normal for the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices (Mammalian Phenotype Ontology, MP_0000226)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000226
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Genes

132 gene mutations causing the abnormal mean corpuscular volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADD1 adducin 1 (alpha)
ADD2 adducin 2 (beta)
ADGRF5 adhesion G protein-coupled receptor F5
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
AHSP alpha hemoglobin stabilizing protein
AMPD3 adenosine monophosphate deaminase 3
ANK1 ankyrin 1, erythrocytic
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ARCN1 archain 1
ARID4A AT rich interactive domain 4A (RBP1-like)
ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
BBS5 Bardet-Biedl syndrome 5
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
C14ORF119 chromosome 14 open reading frame 119
CBX6 chromobox homolog 6
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDK6 cyclin-dependent kinase 6
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CLEC10A C-type lectin domain family 10, member A
CLSTN1 calsyntenin 1
COL4A5 collagen, type IV, alpha 5
CPSF3 cleavage and polyadenylation specific factor 3, 73kDa
DBN1 drebrin 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
DMTN dematin actin binding protein
EHD1 EH-domain containing 1
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
ELMO1 engulfment and cell motility 1
ELMOD1 ELMO/CED-12 domain containing 1
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
ESYT3 extended synaptotagmin-like protein 3
EXOC6 exocyst complex component 6
FAM117B family with sequence similarity 117, member B
FAM132B family with sequence similarity 132, member B
FAM134C family with sequence similarity 134, member C
FAM53B family with sequence similarity 53, member B
FAM63A family with sequence similarity 63, member A
FANCA Fanconi anemia, complementation group A
FBXO7 F-box protein 7
FGG fibrinogen gamma chain
FOXO3 forkhead box O3
FOXP3 forkhead box P3
GLG1 golgi glycoprotein 1
GNAS GNAS complex locus
GPI glucose-6-phosphate isomerase
GPRC5C G protein-coupled receptor, class C, group 5, member C
GRHL3 grainyhead-like 3 (Drosophila)
GTPBP2 GTP binding protein 2
HBA1 hemoglobin, alpha 1
HBZ hemoglobin, zeta
HEPH hephaestin
HK1 hexokinase 1
HMGB3 high mobility group box 3
HMOX1 heme oxygenase 1
IREB2 iron-responsive element binding protein 2
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNIP4 Kv channel interacting protein 4
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KEL Kell blood group, metallo-endopeptidase
KIAA0195 KIAA0195
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF13 Kruppel-like factor 13
L3MBTL2 l(3)mbt-like 2 (Drosophila)
LDHA lactate dehydrogenase A
LMO2 LIM domain only 2 (rhombotin-like 1)
MAP2K7 mitogen-activated protein kinase kinase 7
MED18 mediator complex subunit 18
METTL24 methyltransferase like 24
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B
MIR144 microRNA 144
MIR451A microRNA 451a
MTRF1 mitochondrial translational release factor 1
MYO1C myosin IC
MYSM1 Myb-like, SWIRM and MPN domains 1
NCKAP1L NCK-associated protein 1-like
NGFR nerve growth factor receptor
NIPSNAP1 nipsnap homolog 1 (C. elegans)
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NPTN neuroplastin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDGFB platelet-derived growth factor beta polypeptide
PIM1 Pim-1 proto-oncogene, serine/threonine kinase
PKLR pyruvate kinase, liver and RBC
PPP1R15A protein phosphatase 1, regulatory subunit 15A
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRKG1 protein kinase, cGMP-dependent, type I
RAB5C RAB5C, member RAS oncogene family
RANBP10 RAN binding protein 10
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
RNF10 ring finger protein 10
RPS7 ribosomal protein S7
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
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)
SMAP1 small ArfGAP 1
SNAI2 snail family zinc finger 2
SPTA1 spectrin, alpha, erythrocytic 1
SRSF4 serine/arginine-rich splicing factor 4
STEAP3 STEAP family member 3, metalloreductase
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D2B TBC1 domain family, member 2B
TCHP trichoplein, keratin filament binding
TF transferrin
TFRC transferrin receptor
TMPRSS6 transmembrane protease, serine 6
TPI1 triosephosphate isomerase 1
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene
TTC7A tetratricopeptide repeat domain 7A
ULK1 unc-51 like autophagy activating kinase 1
USHBP1 Usher syndrome 1C binding protein 1
USP21 ubiquitin specific peptidase 21
USP24 ubiquitin specific peptidase 24
VNN1 vanin 1
XK X-linked Kx blood group
ZNF175 zinc finger protein 175