abnormal pancreatic beta cell physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the function of the cells that secrete insulin and are located towards the center of the islets of Langerhans in the pancreas (Mammalian Phenotype Ontology, MP_0003562)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003562
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Genes

131 gene mutations causing the abnormal pancreatic beta cell physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACE angiotensin I converting enzyme
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRA1B adrenoceptor alpha 1B
AKAP5 A kinase (PRKA) anchor protein 5
ALX3 ALX homeobox 3
ANXA7 annexin A7
AQP7 aquaporin 7
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATF4 activating transcription factor 4
ATXN2 ataxin 2
BAD BCL2-associated agonist of cell death
BGLAP bone gamma-carboxyglutamate (gla) protein
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CADM1 cell adhesion molecule 1
CADPS2 Ca++-dependent secretion activator 2
CARTPT CART prepropeptide
CCDC80 coiled-coil domain containing 80
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CHGB chromogranin B
CHRM3 cholinergic receptor, muscarinic 3
CISD2 CDGSH iron sulfur domain 2
CLOCK clock circadian regulator
COL5A3 collagen, type V, alpha 3
CYB5R4 cytochrome b5 reductase 4
DACH1 dachshund family transcription factor 1
DPP4 dipeptidyl-peptidase 4
E2F1 E2F transcription factor 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
ERO1LB ERO1-like beta (S. cerevisiae)
ESR2 estrogen receptor 2 (ER beta)
FAM3B family with sequence similarity 3, member B
FEM1B fem-1 homolog b (C. elegans)
FFAR1 free fatty acid receptor 1
FKBP1B FK506 binding protein 1B, 12.6 kDa
FOXA1 forkhead box A1
GAL galanin/GMAP prepropeptide
GAST gastrin
GCK glucokinase (hexokinase 4)
GEM GTP binding protein overexpressed in skeletal muscle
GHRL ghrelin/obestatin prepropeptide
GJD2 gap junction protein, delta 2, 36kDa
GLIS3 GLIS family zinc finger 3
GLUD1 glutamate dehydrogenase 1
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
GPER1 G protein-coupled estrogen receptor 1
GPR68 G protein-coupled receptor 68
HADH hydroxyacyl-CoA dehydrogenase
HHIP hedgehog interacting protein
HIPK3 homeodomain interacting protein kinase 3
HMGA1 high mobility group AT-hook 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
IFNG interferon, gamma
IL6 interleukin 6
INS insulin
INSR insulin receptor
IRS1 insulin receptor substrate 1
IRS2 insulin receptor substrate 2
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KL klotho
KMT2B lysine (K)-specific methyltransferase 2B
LEP leptin
LEPR leptin receptor
LPIN1 lipin 1
LRP5 low density lipoprotein receptor-related protein 5
MAFA v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A
MAPK13 mitogen-activated protein kinase 13
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MIR184 microRNA 184
MIR375 microRNA 375
MNX1 motor neuron and pancreas homeobox 1
MPG N-methylpurine-DNA glycosylase
MYD88 myeloid differentiation primary response 88
NAMPT nicotinamide phosphoribosyltransferase
NKX2-2 NK2 homeobox 2
NKX6-1 NK6 homeobox 1
NNT nicotinamide nucleotide transhydrogenase
OPRM1 opioid receptor, mu 1
PASK PAS domain containing serine/threonine kinase
PBX1 pre-B-cell leukemia homeobox 1
PCSK2 proprotein convertase subtilisin/kexin type 2
PDE3B phosphodiesterase 3B, cGMP-inhibited
PDX1 pancreatic and duodenal homeobox 1
PFKM phosphofructokinase, muscle
PGR progesterone receptor
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKCD protein kinase C, delta
PRLR prolactin receptor
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4
RARRES2 retinoic acid receptor responder (tazarotene induced) 2
RIMS2 regulating synaptic membrane exocytosis 2
RIPPLY3 ripply transcriptional repressor 3
RNF213 ring finger protein 213
RPH3AL rabphilin 3A-like (without C2 domains)
RPS6 ribosomal protein S6
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
SAMD4A sterile alpha motif domain containing 4A
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SERTAD1 SERTA domain containing 1
SGMS1 sphingomyelin synthase 1
SIDT2 SID1 transmembrane family, member 2
SIRT1 sirtuin 1
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLC9B2 solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2
SNAP25 synaptosomal-associated protein, 25kDa
SOX4 SRY (sex determining region Y)-box 4
SPOP speckle-type POZ protein
SSTR5 somatostatin receptor 5
STAT4 signal transducer and activator of transcription 4
STXBP3 syntaxin binding protein 3
SYTL1 synaptotagmin-like 1
SYTL4 synaptotagmin-like 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THRA thyroid hormone receptor, alpha
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TPCN2 two pore segment channel 2
TRH thyrotropin-releasing hormone
UCN3 urocortin 3
UNC13A unc-13 homolog A (C. elegans)