abnormal fat cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals (Mammalian Phenotype Ontology, MP_0009115)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009115
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Genes

138 gene mutations causing the abnormal fat cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACOT11 acyl-CoA thioesterase 11
ADIPOR2 adiponectin receptor 2
AEBP1 AE binding protein 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
ALMS1 Alstrom syndrome protein 1
ANKRD26 ankyrin repeat domain 26
APOE apolipoprotein E
AQP7 aquaporin 7
ARID5B AT rich interactive domain 5B (MRF1-like)
ARRDC3 arrestin domain containing 3
BBS12 Bardet-Biedl syndrome 12
BGLAP bone gamma-carboxyglutamate (gla) protein
BRD2 bromodomain containing 2
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C5AR2 complement component 5a receptor 2
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBY1 chibby homolog 1 (Drosophila)
CCL13 chemokine (C-C motif) ligand 13
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CERS6 ceramide synthase 6
CES1 carboxylesterase 1
CIDEB cell death-inducing DFFA-like effector b
CIDEC cell death-inducing DFFA-like effector c
CLOCK clock circadian regulator
CNOT3 CCR4-NOT transcription complex, subunit 3
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CRHR2 corticotropin releasing hormone receptor 2
CRTC3 CREB regulated transcription coactivator 3
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSPG4 chondroitin sulfate proteoglycan 4
CTF1 cardiotrophin 1
CXCL14 chemokine (C-X-C motif) ligand 14
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DLK1 delta-like 1 homolog (Drosophila)
DMBX1 diencephalon/mesencephalon homeobox 1
DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1)
DUSP1 dual specificity phosphatase 1
E2F1 E2F transcription factor 1
EBF2 early B-cell factor 2
EIF6 eukaryotic translation initiation factor 6
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC2 excision repair cross-complementation group 2
ESR1 estrogen receptor 1
ESRRA estrogen-related receptor alpha
FEN1 flap structure-specific endonuclease 1
FFAR4 free fatty acid receptor 4
FGF21 fibroblast growth factor 21
FGL1 fibrinogen-like 1
FTO fat mass and obesity associated
GDF3 growth differentiation factor 3
GNAS GNAS complex locus
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
HDC histidine decarboxylase
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HRH1 histamine receptor H1
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
INSIG1 insulin induced gene 1
JDP2 Jun dimerization protein 2
KDM3A lysine (K)-specific demethylase 3A
KL klotho
KSR1 kinase suppressor of ras 1
LCLAT1 lysocardiolipin acyltransferase 1
LEP leptin
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
MAPK8 mitogen-activated protein kinase 8
MARK4 MAP/microtubule affinity-regulating kinase 4
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MC3R melanocortin 3 receptor
MFSD2A major facilitator superfamily domain containing 2A
MIR378A microRNA 378a
MMP19 matrix metallopeptidase 19
MOGAT2 monoacylglycerol O-acyltransferase 2
MRAP2 melanocortin 2 receptor accessory protein 2
NCOA3 nuclear receptor coactivator 3
NCOR1 nuclear receptor corepressor 1
NCOR2 nuclear receptor corepressor 2
NMU neuromedin U
NOS3 nitric oxide synthase 3 (endothelial cell)
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR2C2 nuclear receptor subfamily 2, group C, member 2
OMA1 OMA1 zinc metallopeptidase
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCNA proliferating cell nuclear antigen
PDE3B phosphodiesterase 3B, cGMP-inhibited
PGF placental growth factor
PHF2 PHD finger protein 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLIN1 perilipin 1
PLIN2 perilipin 2
PLSCR1 phospholipid scramblase 1
PLSCR3 phospholipid scramblase 3
PNRC2 proline-rich nuclear receptor coactivator 2
POMC proopiomelanocortin
PPARD peroxisome proliferator-activated receptor delta
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
PROX1 prospero homeobox 1
PTPN1 protein tyrosine phosphatase, non-receptor type 1
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
RBL1 retinoblastoma-like 1
RSC1A1 regulatory solute carrier protein, family 1, member 1
SAMD4A sterile alpha motif domain containing 4A
SDPR serum deprivation response
SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
SERTAD2 SERTA domain containing 2
SIK3 SIK family kinase 3
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SORBS1 sorbin and SH3 domain containing 1
SPG20 spastic paraplegia 20 (Troyer syndrome)
SRA1 steroid receptor RNA activator 1
SSFA2 sperm specific antigen 2
TBC1D4 TBC1 domain family, member 4
TGFB1 transforming growth factor, beta 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TRIB1 tribbles pseudokinase 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TWIST2 twist family bHLH transcription factor 2
TYK2 tyrosine kinase 2
WDTC1 WD and tetratricopeptide repeats 1
WWTR1 WW domain containing transcription regulator 1