abnormal circulating leptin level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance (Mammalian Phenotype Ontology, MP_0005667)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005667
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Genes

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

Symbol Name
ACACB acetyl-CoA carboxylase beta
ACSS1 acyl-CoA synthetase short-chain family member 1
ACTB actin, beta
ADCY3 adenylate cyclase 3
ADIPOR1 adiponectin receptor 1
ADRA1B adrenoceptor alpha 1B
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRP agouti related neuropeptide
AGTR2 angiotensin II receptor, type 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALMS1 Alstrom syndrome protein 1
ALOX5 arachidonate 5-lipoxygenase
ANGPTL6 angiopoietin-like 6
ANKRD11 ankyrin repeat domain 11
ANKRD26 ankyrin repeat domain 26
APOC3 apolipoprotein C-III
APOE apolipoprotein E
ARRDC3 arrestin domain containing 3
ASIP agouti signaling protein
BBS1 Bardet-Biedl syndrome 1
BBS12 Bardet-Biedl syndrome 12
BBS4 Bardet-Biedl syndrome 4
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
BRD2 bromodomain containing 2
BRS3 bombesin-like receptor 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C3 complement component 3
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCDC80 coiled-coil domain containing 80
CCL13 chemokine (C-C motif) ligand 13
CD36 CD36 molecule (thrombospondin receptor)
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CERS6 ceramide synthase 6
CHRM3 cholinergic receptor, muscarinic 3
CIDEB cell death-inducing DFFA-like effector b
CIDEC cell death-inducing DFFA-like effector c
CLOCK clock circadian regulator
CNR1 cannabinoid receptor 1 (brain)
CPE carboxypeptidase E
CRBN cereblon
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CRTC3 CREB regulated transcription coactivator 3
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTF1 cardiotrophin 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DGAT1 diacylglycerol O-acyltransferase 1
DMBX1 diencephalon/mesencephalon homeobox 1
DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1)
DRD3 dopamine receptor D3
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
ESR1 estrogen receptor 1
FABP2 fatty acid binding protein 2, intestinal
FABP5 fatty acid binding protein 5 (psoriasis-associated)
FFAR3 free fatty acid receptor 3
FFAR4 free fatty acid receptor 4
FGF21 fibroblast growth factor 21
FTO fat mass and obesity associated
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCGR glucagon receptor
GHR growth hormone receptor
GNAS GNAS complex locus
GNG3 guanine nucleotide binding protein (G protein), gamma 3
GPR26 G protein-coupled receptor 26
GUCY2C guanylate cyclase 2C
HAP1 huntingtin-associated protein 1
HDC histidine decarboxylase
HRH1 histamine receptor H1
HRH3 histamine receptor H3
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
IKBKE inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon
IL1R1 interleukin 1 receptor, type I
INPP5K inositol polyphosphate-5-phosphatase K
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
IRS2 insulin receptor substrate 2
KDM3A lysine (K)-specific demethylase 3A
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KLB klotho beta
LEP leptin
LEPR leptin receptor
LGALS12 lectin, galactoside-binding, soluble, 12
LIF leukemia inhibitory factor
LIPE lipase, hormone-sensitive
LMNA lamin A/C
LPIN1 lipin 1
MAPK8 mitogen-activated protein kinase 8
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1
MARK2 MAP/microtubule affinity-regulating kinase 2
MC3R melanocortin 3 receptor
MC4R melanocortin 4 receptor
MCHR1 melanin-concentrating hormone receptor 1
MKKS McKusick-Kaufman syndrome
MRAP2 melanocortin 2 receptor accessory protein 2
MSTN myostatin
NCOA1 nuclear receptor coactivator 1
NCOA3 nuclear receptor coactivator 3
NCOR2 nuclear receptor corepressor 2
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NMU neuromedin U
NMUR2 neuromedin U receptor 2
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPBWR1 neuropeptides B/W receptor 1
NPY1R neuropeptide Y receptor Y1
NPY5R neuropeptide Y receptor Y5
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OMA1 OMA1 zinc metallopeptidase
OSMR oncostatin M receptor
PCSK1 proprotein convertase subtilisin/kexin type 1
PDE10A phosphodiesterase 10A
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PLA2G1B phospholipase A2, group IB (pancreas)
PLIN1 perilipin 1
PLIN2 perilipin 2
PLSCR3 phospholipid scramblase 3
PMCH pro-melanin-concentrating hormone
PNPLA2 patatin-like phospholipase domain containing 2
PNRC2 proline-rich nuclear receptor coactivator 2
POMC proopiomelanocortin
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3C protein phosphatase 1, regulatory subunit 3C
PREP prolyl endopeptidase
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta
PRKCI protein kinase C, iota
PRLH prolactin releasing hormone
PRLHR prolactin releasing hormone receptor
PRLR prolactin receptor
PROX1 prospero homeobox 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTRF polymerase I and transcript release factor
PYY peptide YY
RAI1 retinoic acid induced 1
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
RLN3 relaxin 3
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSC1A1 regulatory solute carrier protein, family 1, member 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SELM selenoprotein M
SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
SERTAD2 SERTA domain containing 2
SIK3 SIK family kinase 3
SIM1 single-minded family bHLH transcription factor 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SOCS3 suppressor of cytokine signaling 3
SQSTM1 sequestosome 1
SSFA2 sperm specific antigen 2
SSTR5 somatostatin receptor 5
STEAP4 STEAP family member 4
TGFB1 transforming growth factor, beta 1
THRA thyroid hormone receptor, alpha
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
UBB ubiquitin B
WDTC1 WD and tetratricopeptide repeats 1
ZBTB20 zinc finger and BTB domain containing 20
ZEB1 zinc finger E-box binding homeobox 1