abnormal circulating enzyme level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant concentration in the blood of any of the proteins that act as catalysts for biological reactions (Mammalian Phenotype Ontology, MP_0001570)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001570
Similar Terms
Downloads & Tools

Genes

305 gene mutations causing the abnormal circulating enzyme level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ACE angiotensin I converting enzyme
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSL4 acyl-CoA synthetase long-chain family member 4
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGO1 argonaute RISC catalytic component 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHCYL1 adenosylhomocysteinase-like 1
AKAP9 A kinase (PRKA) anchor protein 9
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALPL alkaline phosphatase, liver/bone/kidney
AMACR alpha-methylacyl-CoA racemase
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
AP3S2 adaptor-related protein complex 3, sigma 2 subunit
APOE apolipoprotein E
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARRB2 arrestin, beta 2
ASGR1 asialoglycoprotein receptor 1
ASL argininosuccinate lyase
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATPIF1 ATPase inhibitory factor 1
B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3
BBS5 Bardet-Biedl syndrome 5
BCO1 beta-carotene oxygenase 1
BCR breakpoint cluster region
BHMT betaine--homocysteine S-methyltransferase
BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1
BTK Bruton agammaglobulinemia tyrosine kinase
C3 complement component 3
C5AR2 complement component 5a receptor 2
CAPN3 calpain 3, (p94)
CAV3 caveolin 3
CBX6 chromobox homolog 6
CCR2 chemokine (C-C motif) receptor 2
CD28 CD28 molecule
CD33 CD33 molecule
CDH23 cadherin-related 23
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHD7 chromodomain helicase DNA binding protein 7
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLEC4G C-type lectin domain family 4, member G
CNN1 calponin 1, basic, smooth muscle
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL4A1 collagen, type IV, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CRH corticotropin releasing hormone
CTH cystathionine gamma-lyase
CYBA cytochrome b-245, alpha polypeptide
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DAAM2 dishevelled associated activator of morphogenesis 2
DBN1 drebrin 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
DEGS1 delta(4)-desaturase, sphingolipid 1
DFNB31 deafness, autosomal recessive 31
DLG4 discs, large homolog 4 (Drosophila)
DMD dystrophin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNM1L dynamin 1-like
DUSP1 dual specificity phosphatase 1
DYNLL1 dynein, light chain, LC8-type 1
DYSF dysferlin
EGR1 early growth response 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
ELN elastin
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
EPB41 erythrocyte membrane protein band 4.1
EPB41L5 erythrocyte membrane protein band 4.1 like 5
EYA4 EYA transcriptional coactivator and phosphatase 4
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAIM Fas apoptotic inhibitory molecule
FAM134C family with sequence similarity 134, member C
FAM20C family with sequence similarity 20, member C
FAM96A family with sequence similarity 96, member A
FASLG Fas ligand (TNF superfamily, member 6)
FBXL3 F-box and leucine-rich repeat protein 3
FBXO11 F-box protein 11
FCMR Fc fragment of IgM receptor
FECH ferrochelatase
FFAR4 free fatty acid receptor 4
FGF23 fibroblast growth factor 23
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FOXN1 forkhead box N1
FPGS folylpolyglutamate synthase
G0S2 G0/G1 switch 2
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GCLM glutamate-cysteine ligase, modifier subunit
GFM1 G elongation factor, mitochondrial 1
GGA1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1
GGA3 golgi-associated, gamma adaptin ear containing, ARF binding protein 3
GHR growth hormone receptor
GIMAP6 GTPase, IMAP family member 6
GJA5 gap junction protein, alpha 5, 40kDa
GLMP glycosylated lysosomal membrane protein
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNMT glycine N-methyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPRC5C G protein-coupled receptor, class C, group 5, member C
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GSTA4 glutathione S-transferase alpha 4
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HBP1 HMG-box transcription factor 1
HDGFRP2 hepatoma-derived growth factor-related protein 2
HMOX1 heme oxygenase 1
HNF1A HNF1 homeobox A
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HPN hepsin
HPS1 Hermansky-Pudlak syndrome 1
IDUA iduronidase, alpha-L-
IFT88 intraflagellar transport 88
IGHMBP2 immunoglobulin mu binding protein 2
IL10 interleukin 10
IL22 interleukin 22
IL27RA interleukin 27 receptor, alpha
IL6R interleukin 6 receptor
INHBB inhibin, beta B
IQGAP2 IQ motif containing GTPase activating protein 2
IRF1 interferon regulatory factor 1
ITGA7 integrin, alpha 7
ITGB5 integrin, beta 5
JAK1 Janus kinase 1
KCTD15 potassium channel tetramerization domain containing 15
KISS1R KISS1 receptor
KPNA1 karyopherin alpha 1 (importin alpha 5)
LARGE like-glycosyltransferase
LDHA lactate dehydrogenase A
LDLR low density lipoprotein receptor
LECT1 leukocyte cell derived chemotaxin 1
LIF leukemia inhibitory factor
LMNA lamin A/C
LOC102723475 putative uncharacterized protein LOC388820
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRRK1 leucine-rich repeat kinase 1
LTBP1 latent transforming growth factor beta binding protein 1
LYPD3 LY6/PLAUR domain containing 3
LZTR1 leucine-zipper-like transcription regulator 1
MAPK1 mitogen-activated protein kinase 1
MAPRE3 microtubule-associated protein, RP/EB family, member 3
MB21D1 Mab-21 domain containing 1
MC4R melanocortin 4 receptor
MDK midkine (neurite growth-promoting factor 2)
MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B
MIB2 mindbomb E3 ubiquitin protein ligase 2
MIR122 microRNA 122
MPV17 MpV17 mitochondrial inner membrane protein
MRAP2 melanocortin 2 receptor accessory protein 2
MST1R macrophage stimulating 1 receptor
MTA2 metastasis associated 1 family, member 2
MTMR3 myotubularin related protein 3
MTSS1 metastasis suppressor 1
MYBPC3 myosin binding protein C, cardiac
MYD88 myeloid differentiation primary response 88
MYH11 myosin, heavy chain 11, smooth muscle
MYO6 myosin VI
MYO7A myosin VIIA
MYOZ1 myozenin 1
MYSM1 Myb-like, SWIRM and MPN domains 1
NAGA N-acetylgalactosaminidase, alpha-
NCF1 neutrophil cytosolic factor 1
NCOA1 nuclear receptor coactivator 1
NCOA5 nuclear receptor coactivator 5
NCOR2 nuclear receptor corepressor 2
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
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPR1 natriuretic peptide receptor 1
NPR3 natriuretic peptide receptor 3
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR2C2 nuclear receptor subfamily 2, group C, member 2
NR3C2 nuclear receptor subfamily 3, group C, member 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5E 5'-nucleotidase, ecto (CD73)
NUCB2 nucleobindin 2
OAT ornithine aminotransferase
OMA1 OMA1 zinc metallopeptidase
OSTM1 osteopetrosis associated transmembrane protein 1
PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDE10A phosphodiesterase 10A
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PER2 period circadian clock 2
PEX3 peroxisomal biogenesis factor 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
PHYH phytanoyl-CoA 2-hydroxylase
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PILRA paired immunoglobin-like type 2 receptor alpha
PITPNA phosphatidylinositol transfer protein, alpha
PITX3 paired-like homeodomain 3
PLEKHM2 pleckstrin homology domain containing, family M (with RUN domain) member 2
PPARG peroxisome proliferator-activated receptor gamma
PRF1 perforin 1 (pore forming protein)
PRKCZ protein kinase C, zeta
PROX1 prospero homeobox 1
PTN pleiotrophin
RAB27A RAB27A, member RAS oncogene family
RAB5C RAB5C, member RAS oncogene family
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3
RDX radixin
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
REN renin
RHBDD3 rhomboid domain containing 3
RIC1 RAB6A GEF complex partner 1
RNF7 ring finger protein 7
RPRD1B regulation of nuclear pre-mRNA domain containing 1B
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUVBL1 RuvB-like AAA ATPase 1
RXFP2 relaxin/insulin-like family peptide receptor 2
SCIMP SLP adaptor and CSK interacting membrane protein
SECISBP2 SECIS binding protein 2
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
SEPT8 septin 8
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIK3 SIK family kinase 3
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC1A7 solute carrier family 1 (glutamate transporter), member 7
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC38A10 solute carrier family 38, member 10
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5
SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SOD2 superoxide dismutase 2, mitochondrial
SRXN1 sulfiredoxin 1
ST18 suppression of tumorigenicity 18, zinc finger
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
STC2 stanniocalcin 2
STX11 syntaxin 11
SUCNR1 succinate receptor 1
SUCO SUN domain containing ossification factor
SYNC syncoilin, intermediate filament protein
SYTL1 synaptotagmin-like 1
TBC1D10A TBC1 domain family, member 10A
TCEAL5 transcription elongation factor A (SII)-like 5
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TGFB1 transforming growth factor, beta 1
THRB thyroid hormone receptor, beta
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMBIM1 transmembrane BAX inhibitor motif containing 1
TMEM189 transmembrane protein 189
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNIK TRAF2 and NCK interacting kinase
TRAFD1 TRAF-type zinc finger domain containing 1
TRIM27 tripartite motif containing 27
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TWF1 twinfilin actin binding protein 1
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UBE3B ubiquitin protein ligase E3B
UMOD uromodulin
UNC93B1 unc-93 homolog B1 (C. elegans)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USP1 ubiquitin specific peptidase 1
USP3 ubiquitin specific peptidase 3
VAMP8 vesicle-associated membrane protein 8
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR37 WD repeat domain 37
WDR47 WD repeat domain 47
WNK4 WNK lysine deficient protein kinase 4
WTAP Wilms tumor 1 associated protein
WWOX WW domain containing oxidoreductase
XBP1 X-box binding protein 1
XDH xanthine dehydrogenase
XYLB xylulokinase homolog (H. influenzae)
YDJC YdjC homolog (bacterial)
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC13 zinc finger, DHHC-type containing 13
ZMPSTE24 zinc metallopeptidase STE24
ZNF175 zinc finger protein 175