abnormal vascular smooth muscle physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels (Mammalian Phenotype Ontology, MP_0005595)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005595
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Genes

110 gene mutations causing the abnormal vascular smooth muscle physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTA2 actin, alpha 2, smooth muscle, aorta
ACVRL1 activin A receptor type II-like 1
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRA1A adrenoceptor alpha 1A
ADRA1B adrenoceptor alpha 1B
ADRA2B adrenoceptor alpha 2B
AGER advanced glycosylation end product-specific receptor
AGTR2 angiotensin II receptor, type 2
AGXT2 alanine--glyoxylate aminotransferase 2
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASIC2 acid sensing (proton gated) ion channel 2
ASL argininosuccinate lyase
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4
AVPR1A arginine vasopressin receptor 1A
BCAR1 breast cancer anti-estrogen resistance 1
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCL13 chemokine (C-C motif) ligand 13
CD44 CD44 molecule (Indian blood group)
CHRD chordin
CHRM3 cholinergic receptor, muscarinic 3
CHRM5 cholinergic receptor, muscarinic 5
COL3A1 collagen, type III, alpha 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSRP2 cysteine and glycine-rich protein 2
CTH cystathionine gamma-lyase
CX3CR1 chemokine (C-X3-C motif) receptor 1
DDAH1 dimethylarginine dimethylaminohydrolase 1
ECE1 endothelin converting enzyme 1
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ENG endoglin
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
F3 coagulation factor III (thromboplastin, tissue factor)
FBLN5 fibulin 5
FGF2 fibroblast growth factor 2 (basic)
GJA1 gap junction protein, alpha 1, 43kDa
GPSM1 G-protein signaling modulator 1
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY1B3 guanylate cyclase 1, soluble, beta 3
HMOX1 heme oxygenase 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
IER3 immediate early response 3
IL10 interleukin 10
IRS1 insulin receptor substrate 1
IRS2 insulin receptor substrate 2
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNK6 potassium channel, two pore domain subfamily K, member 6
KCNMB1 potassium channel subfamily M regulatory beta subunit 1
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KLF5 Kruppel-like factor 5 (intestinal)
KLK3 kallikrein-related peptidase 3
LEPR leptin receptor
LMNA lamin A/C
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MRVI1 murine retrovirus integration site 1 homolog
MYH11 myosin, heavy chain 11, smooth muscle
NCF1 neutrophil cytosolic factor 1
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NOX1 NADPH oxidase 1
NPR1 natriuretic peptide receptor 1
NPY1R neuropeptide Y receptor Y1
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6
PDC phosducin
PECAM1 platelet/endothelial cell adhesion molecule 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POMT1 protein-O-mannosyltransferase 1
PRKG1 protein kinase, cGMP-dependent, type I
PSEN1 presenilin 1
PTGDR prostaglandin D2 receptor (DP)
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGER3 prostaglandin E receptor 3 (subtype EP3)
PTK2B protein tyrosine kinase 2 beta
PTPRM protein tyrosine phosphatase, receptor type, M
RAMP1 receptor (G protein-coupled) activity modifying protein 1
REN renin
RGS2 regulator of G-protein signaling 2
RORA RAR-related orphan receptor A
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SMAD6 SMAD family member 6
SMTN smoothelin
SMTNL1 smoothelin-like 1
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SPP1 secreted phosphoprotein 1
TBX1 T-box 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR3 toll-like receptor 3
TRPC4 transient receptor potential cation channel, subfamily C, member 4
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPV4 transient receptor potential cation channel, subfamily V, member 4
UTS2R urotensin 2 receptor
VIM vimentin
ZEB1 zinc finger E-box binding homeobox 1
ZFP36 ZFP36 ring finger protein