abnormal gas homeostasis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the processes involved in the maintenance of an internal equilibrium of gaseous elements in animal tissues or blood (Mammalian Phenotype Ontology, MP_0003948)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003948
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Genes

440 gene mutations causing the abnormal gas homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACACB acetyl-CoA carboxylase beta
ACER1 alkaline ceramidase 1
ACKR3 atypical chemokine receptor 3
ACOT11 acyl-CoA thioesterase 11
ACOT13 acyl-CoA thioesterase 13
ACSS1 acyl-CoA synthetase short-chain family member 1
ACTB actin, beta
ACVR2B activin A receptor, type IIB
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRA2B adrenoceptor alpha 2B
ADRB2 adrenoceptor beta 2, surface
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRP agouti related neuropeptide
AGTR2 angiotensin II receptor, type 2
AKAP9 A kinase (PRKA) anchor protein 9
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALX1 ALX homeobox 1
AMER1 APC membrane recruitment protein 1
AMPD3 adenosine monophosphate deaminase 3
ANGPTL2 angiopoietin-like 2
ANGPTL6 angiopoietin-like 6
ANO1 anoctamin 1, calcium activated chloride channel
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APLN apelin
ARG1 arginase 1
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARRDC3 arrestin domain containing 3
ASL argininosuccinate lyase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATF2 activating transcription factor 2
ATOH1 atonal homolog 1 (Drosophila)
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATXN1L ataxin 1-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS5 Bardet-Biedl syndrome 5
BCKDK branched chain ketoacid dehydrogenase kinase
BCL3 B-cell CLL/lymphoma 3
BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1
BRD2 bromodomain containing 2
BRPF1 bromodomain and PHD finger containing, 1
BRS3 bombesin-like receptor 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSPRY B-box and SPRY domain containing
BSX brain-specific homeobox
BTK Bruton agammaglobulinemia tyrosine kinase
C11ORF73 chromosome 11 open reading frame 73
C1QBP complement component 1, q subcomponent binding protein
CAPRIN1 cell cycle associated protein 1
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBX1 chromobox homolog 1
CCDC7 coiled-coil domain containing 7
CCDC80 coiled-coil domain containing 80
CCR1 chemokine (C-C motif) receptor 1
CCR6 chemokine (C-C motif) receptor 6
CD28 CD28 molecule
CD300LF CD300 molecule-like family member f
CDH23 cadherin-related 23
CDK5 cyclin-dependent kinase 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CENPJ centromere protein J
CEP19 centrosomal protein 19kDa
CES1 carboxylesterase 1
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CIDEB cell death-inducing DFFA-like effector b
CIDEC cell death-inducing DFFA-like effector c
CISD2 CDGSH iron sulfur domain 2
CLIP3 CAP-GLY domain containing linker protein 3
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
COMT catechol-O-methyltransferase
CPE carboxypeptidase E
CREBBP CREB binding protein
CRTC1 CREB regulated transcription coactivator 1
CRTC3 CREB regulated transcription coactivator 3
CSPG4 chondroitin sulfate proteoglycan 4
CTF1 cardiotrophin 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUL7 cullin 7
CUX1 cut-like homeobox 1
CYBB cytochrome b-245, beta polypeptide
CYLD cylindromatosis (turban tumor syndrome)
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DAAM1 dishevelled associated activator of morphogenesis 1
DACH1 dachshund family transcription factor 1
DBN1 drebrin 1
DBX1 developing brain homeobox 1
DDAH1 dimethylarginine dimethylaminohydrolase 1
DFNB31 deafness, autosomal recessive 31
DGAT1 diacylglycerol O-acyltransferase 1
DHCR7 7-dehydrocholesterol reductase
DLG1 discs, large homolog 1 (Drosophila)
DLG2 discs, large homolog 2 (Drosophila)
DLG4 discs, large homolog 4 (Drosophila)
DLX2 distal-less homeobox 2
DNASE1L2 deoxyribonuclease I-like 2
DOCK1 dedicator of cytokinesis 1
DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1)
DUSP1 dual specificity phosphatase 1
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
ECEL1 endothelin converting enzyme-like 1
EDN1 endothelin 1
EDN2 endothelin 2
EDNRB endothelin receptor type B
EGFL7 EGF-like-domain, multiple 7
EGFR epidermal growth factor receptor
EGLN2 egl-9 family hypoxia-inducible factor 2
EIF4E2 eukaryotic translation initiation factor 4E family member 2
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPHA3 EPH receptor A3
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERRFI1 ERBB receptor feedback inhibitor 1
FABP3 fatty acid binding protein 3, muscle and heart
FAM134C family with sequence similarity 134, member C
FAM63A family with sequence similarity 63, member A
FBXO11 F-box protein 11
FBXW8 F-box and WD repeat domain containing 8
FFAR3 free fatty acid receptor 3
FFAR4 free fatty acid receptor 4
FGF18 fibroblast growth factor 18
FGF21 fibroblast growth factor 21
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFRL1 fibroblast growth factor receptor-like 1
FGL1 fibrinogen-like 1
FHL1 four and a half LIM domains 1
FKBP8 FK506 binding protein 8, 38kDa
FOSL2 FOS-like antigen 2
FOXA2 forkhead box A2
FOXG1 forkhead box G1
FOXO1 forkhead box O1
FST follistatin
FSTL1 follistatin-like 1
FTO fat mass and obesity associated
FZD3 frizzled class receptor 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GBA glucosidase, beta, acid
GBX2 gastrulation brain homeobox 2
GHRL ghrelin/obestatin prepropeptide
GHSR growth hormone secretagogue receptor
GIF gastric intrinsic factor (vitamin B synthesis)
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GJA1 gap junction protein, alpha 1, 43kDa
GNAS GNAS complex locus
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
GPR12 G protein-coupled receptor 12
GPR4 G protein-coupled receptor 4
GPR50 G protein-coupled receptor 50
GREM1 gremlin 1, DAN family BMP antagonist
GRID2 glutamate receptor, ionotropic, delta 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GSX2 GS homeobox 2
HADH hydroxyacyl-CoA dehydrogenase
HBA1 hemoglobin, alpha 1
HDAC2 histone deacetylase 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HINT1 histidine triad nucleotide binding protein 1
HLA-G major histocompatibility complex, class I, G
HMOX2 heme oxygenase 2
HOXA1 homeobox A1
HOXA5 homeobox A5
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRH3 histamine receptor H3
HSPA1B heat shock 70kDa protein 1B
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPB11 heat shock protein family B (small), member 11
ICAM1 intercellular adhesion molecule 1
IFITM1 interferon induced transmembrane protein 1
IFNG interferon, gamma
IFT27 intraflagellar transport 27
IGF1R insulin-like growth factor 1 receptor
IGF2R insulin-like growth factor 2 receptor
IL10 interleukin 10
IL13RA1 interleukin 13 receptor, alpha 1
IL18 interleukin 18
IL1R1 interleukin 1 receptor, type I
IL6 interleukin 6
ILF3 interleukin enhancer binding factor 3, 90kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
INSM1 insulinoma-associated 1
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG2 jagged 2
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM3A lysine (K)-specific demethylase 3A
KDM4C lysine (K)-specific demethylase 4C
KDM6B lysine (K)-specific demethylase 6B
KDM8 lysine (K)-specific demethylase 8
KIF5A kinesin family member 5A
KIFAP3 kinesin-associated protein 3
KLF17 Kruppel-like factor 17
KLF3 Kruppel-like factor 3 (basic)
KLF7 Kruppel-like factor 7 (ubiquitous)
LAMA4 laminin, alpha 4
LBP lipopolysaccharide binding protein
LCLAT1 lysocardiolipin acyltransferase 1
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LEPROT leptin receptor overlapping transcript
LGALS12 lectin, galactoside-binding, soluble, 12
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LHX4 LIM homeobox 4
LHX5 LIM homeobox 5
LIF leukemia inhibitory factor
LIPE lipase, hormone-sensitive
LMF1 lipase maturation factor 1
LOX lysyl oxidase
LPCAT1 lysophosphatidylcholine acyltransferase 1
LPIN1 lipin 1
LPL lipoprotein lipase
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LTBP1 latent transforming growth factor beta binding protein 1
LUZP1 leucine zipper protein 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN1A2 mannosidase, alpha, class 1A, member 2
MAPK6 mitogen-activated protein kinase 6
MAPK8 mitogen-activated protein kinase 8
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARK4 MAP/microtubule affinity-regulating kinase 4
MB myoglobin
MB21D1 Mab-21 domain containing 1
MC3R melanocortin 3 receptor
MC4R melanocortin 4 receptor
MCHR1 melanin-concentrating hormone receptor 1
MECOM MDS1 and EVI1 complex locus
MEX3C mex-3 RNA binding family member C
MFSD2A major facilitator superfamily domain containing 2A
MGLL monoglyceride lipase
MIR378A microRNA 378a
MKS1 Meckel syndrome, type 1
MN1 meningioma (disrupted in balanced translocation) 1
MOGAT2 monoacylglycerol O-acyltransferase 2
MSX1 msh homeobox 1
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUSK muscle, skeletal, receptor tyrosine kinase
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYO6 myosin VI
MYO7A myosin VIIA
MYOG myogenin (myogenic factor 4)
MYSM1 Myb-like, SWIRM and MPN domains 1
NAGA N-acetylgalactosaminidase, alpha-
NBEA neurobeachin
NCOA3 nuclear receptor coactivator 3
NCOR1 nuclear receptor corepressor 1
NCOR2 nuclear receptor corepressor 2
NDN necdin, melanoma antigen (MAGE) family member
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NFIB nuclear factor I/B
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NIPSNAP1 nipsnap homolog 1 (C. elegans)
NMU neuromedin U
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NPBWR1 neuropeptides B/W receptor 1
NPR2 natriuretic peptide receptor 2
NPY1R neuropeptide Y receptor Y1
NPY6R neuropeptide Y receptor Y6 (pseudogene)
NR2C2 nuclear receptor subfamily 2, group C, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRG1 neuregulin 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OLIG3 oligodendrocyte transcription factor 3
OMA1 OMA1 zinc metallopeptidase
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
PASK PAS domain containing serine/threonine kinase
PAX3 paired box 3
PBX3 pre-B-cell leukemia homeobox 3
PDE10A phosphodiesterase 10A
PDPN podoplanin
PDS5B PDS5 cohesin associated factor B
PDYN prodynorphin
PECAM1 platelet/endothelial cell adhesion molecule 1
PFKM phosphofructokinase, muscle
PHF14 PHD finger protein 14
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PITX2 paired-like homeodomain 2
PKDCC protein kinase domain containing, cytoplasmic
PLIN1 perilipin 1
PLIN5 perilipin 5
PLXND1 plexin D1
PMCH pro-melanin-concentrating hormone
PNPLA2 patatin-like phospholipase domain containing 2
PNRC2 proline-rich nuclear receptor coactivator 2
POLB polymerase (DNA directed), beta
POMC proopiomelanocortin
POU2F2 POU class 2 homeobox 2
POU3F1 POU class 3 homeobox 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PPP5C protein phosphatase 5, catalytic subunit
PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta
PRKCE protein kinase C, epsilon
PRMT3 protein arginine methyltransferase 3
PROP1 PROP paired-like homeobox 1
PROX1 prospero homeobox 1
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
PRRX1 paired related homeobox 1
PTF1A pancreas specific transcription factor, 1a
PTHLH parathyroid hormone-like hormone
RAD18 RAD18 E3 ubiquitin protein ligase
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
RB1 retinoblastoma 1
RBL1 retinoblastoma-like 1
RIPPLY3 ripply transcriptional repressor 3
RNF169 ring finger protein 169
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROR1 receptor tyrosine kinase-like orphan receptor 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
RYR1 ryanodine receptor 1 (skeletal)
SAFB scaffold attachment factor B
SAMD4A sterile alpha motif domain containing 4A
SAP130 Sin3A-associated protein, 130kDa
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCN2A sodium channel, voltage gated, type II alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERTAD2 SERTA domain containing 2
SETMAR SET domain and mariner transposase fusion gene
SFRP2 secreted frizzled-related protein 2
SFTPB surfactant protein B
SIK3 SIK family kinase 3
SIRT1 sirtuin 1
SIRT3 sirtuin 3
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC25A25 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC38A10 solute carrier family 38, member 10
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNIP1 Smad nuclear interacting protein 1
SNTA1 syntrophin, alpha 1
SNX5 sorting nexin 5
SOD2 superoxide dismutase 2, mitochondrial
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SOX5 SRY (sex determining region Y)-box 5
SP7 Sp7 transcription factor
SPNS1 spinster homolog 1 (Drosophila)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SRSF4 serine/arginine-rich splicing factor 4
SS18 synovial sarcoma translocation, chromosome 18
STAR steroidogenic acute regulatory protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STIM1 stromal interaction molecule 1
STK40 serine/threonine kinase 40
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
SYNE1 spectrin repeat containing, nuclear envelope 1
TAL1 T-cell acute lymphocytic leukemia 1
TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
TBC1D4 TBC1 domain family, member 4
TCF21 transcription factor 21
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TFRC transferrin receptor
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TH tyrosine hydroxylase
TICAM1 toll-like receptor adaptor molecule 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLX3 T-cell leukemia homeobox 3
TMEM189 transmembrane protein 189
TMEM38B transmembrane protein 38B
TMEM68 transmembrane protein 68
TMPRSS15 transmembrane protease, serine 15
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TTN titin
TYK2 tyrosine kinase 2
UBE2B ubiquitin-conjugating enzyme E2B
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UMOD uromodulin
USH1C Usher syndrome 1C (autosomal recessive, severe)
USP1 ubiquitin specific peptidase 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VGF VGF nerve growth factor inducible
WDR47 WD repeat domain 47
WNT2 wingless-type MMTV integration site family member 2
XBP1 X-box binding protein 1
XDH xanthine dehydrogenase
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YBX1 Y box binding protein 1
YDJC YdjC homolog (bacterial)
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
YY1 YY1 transcription factor
ZC3HC1 zinc finger, C3HC-type containing 1
ZEB1 zinc finger E-box binding homeobox 1
ZFP36 ZFP36 ring finger protein
ZNF148 zinc finger protein 148
ZNF704 zinc finger protein 704