abnormal keratinocyte physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal function of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum (Mammalian Phenotype Ontology, MP_0003453)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003453
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Genes

56 gene mutations causing the abnormal keratinocyte physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AHR aryl hydrocarbon receptor
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5
CASP3 caspase 3, apoptosis-related cysteine peptidase
CD151 CD151 molecule (Raph blood group)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CERS3 ceramide synthase 3
CHUK conserved helix-loop-helix ubiquitous kinase
CLIC4 chloride intracellular channel 4
CST6 cystatin E/M
CTSV cathepsin V
CYLD cylindromatosis (turban tumor syndrome)
DACT2 dishevelled-binding antagonist of beta-catenin 2
EPPK1 epiplakin 1
ESR2 estrogen receptor 2 (ER beta)
FERMT1 fermitin family member 1
GAB1 GRB2-associated binding protein 1
GRHL3 grainyhead-like 3 (Drosophila)
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17C interleukin 17C
IL17RE interleukin 17 receptor E
IL1RN interleukin 1 receptor antagonist
ILK integrin-linked kinase
IRF6 interferon regulatory factor 6
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
KDF1 keratinocyte differentiation factor 1
KLF10 Kruppel-like factor 10
KRT14 keratin 14, type I
KRT9 keratin 9, type I
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
MAP3K6 mitogen-activated protein kinase kinase kinase 6
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
PAQR3 progestin and adipoQ receptor family member III
PKP3 plakophilin 3
PLEC plectin
PPARD peroxisome proliferator-activated receptor delta
PPM1A protein phosphatase, Mg2+/Mn2+ dependent, 1A
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
SGPP1 sphingosine-1-phosphate phosphatase 1
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SMAD3 SMAD family member 3
TNF tumor necrosis factor
TP63 tumor protein p63
TREX2 three prime repair exonuclease 2
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TYR tyrosinase