abnormal brown adipose tissue morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes (Mammalian Phenotype Ontology, MP_0002971)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002971
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Genes

105 gene mutations causing the abnormal brown adipose tissue morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACADVL acyl-CoA dehydrogenase, very long chain
ACOT11 acyl-CoA thioesterase 11
ACTA1 actin, alpha 1, skeletal muscle
ADAM12 ADAM metallopeptidase domain 12
ADIPOR1 adiponectin receptor 1
ADIPOR2 adiponectin receptor 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKT2 v-akt murine thymoma viral oncogene homolog 2
AMER1 APC membrane recruitment protein 1
ANKRD26 ankyrin repeat domain 26
APOE apolipoprotein E
ARID5B AT rich interactive domain 5B (MRF1-like)
ARRDC3 arrestin domain containing 3
ASIP agouti signaling protein
BBS1 Bardet-Biedl syndrome 1
BRS3 bombesin-like receptor 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C3 complement component 3
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CERS6 ceramide synthase 6
CIDEA cell death-inducing DFFA-like effector a
CIDEC cell death-inducing DFFA-like effector c
CNOT3 CCR4-NOT transcription complex, subunit 3
CRHR2 corticotropin releasing hormone receptor 2
CRTC3 CREB regulated transcription coactivator 3
CSHL1 chorionic somatomammotropin hormone-like 1
CSPG4 chondroitin sulfate proteoglycan 4
DOCK7 dedicator of cytokinesis 7
DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1)
EDN2 endothelin 2
FABP3 fatty acid binding protein 3, muscle and heart
FGF21 fibroblast growth factor 21
FGL1 fibrinogen-like 1
FOXC2 forkhead box C2
G0S2 G0/G1 switch 2
GCGR glucagon receptor
GNAS GNAS complex locus
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
GPR68 G protein-coupled receptor 68
GRM1 glutamate receptor, metabotropic 1
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HDC histidine decarboxylase
HRH1 histamine receptor H1
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
KDM3A lysine (K)-specific demethylase 3A
KL klotho
LCLAT1 lysocardiolipin acyltransferase 1
LEP leptin
LEPR leptin receptor
LGALS12 lectin, galactoside-binding, soluble, 12
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPE lipase, hormone-sensitive
LPIN1 lipin 1
LRP6 low density lipoprotein receptor-related protein 6
MARK2 MAP/microtubule affinity-regulating kinase 2
MARK3 MAP/microtubule affinity-regulating kinase 3
MARK4 MAP/microtubule affinity-regulating kinase 4
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MC3R melanocortin 3 receptor
MLXIPL MLX interacting protein-like
MOGAT2 monoacylglycerol O-acyltransferase 2
MRAP2 melanocortin 2 receptor accessory protein 2
MYOG myogenin (myogenic factor 4)
NCOA3 nuclear receptor coactivator 3
NIPBL Nipped-B homolog (Drosophila)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPY6R neuropeptide Y receptor Y6 (pseudogene)
NR2C2 nuclear receptor subfamily 2, group C, member 2
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLIN1 perilipin 1
PNN pinin, desmosome associated protein
PNPLA2 patatin-like phospholipase domain containing 2
POU3F2 POU class 3 homeobox 2
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PRKG1 protein kinase, cGMP-dependent, type I
PRLH prolactin releasing hormone
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RYR1 ryanodine receptor 1 (skeletal)
SC5D sterol-C5-desaturase
SERTAD2 SERTA domain containing 2
SIK3 SIK family kinase 3
SIM1 single-minded family bHLH transcription factor 1
SRA1 steroid receptor RNA activator 1
SSFA2 sperm specific antigen 2
STAG1 stromal antigen 1
TK2 thymidine kinase 2, mitochondrial
TWIST2 twist family bHLH transcription factor 2
TYK2 tyrosine kinase 2
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
ZDHHC13 zinc finger, DHHC-type containing 13