abnormal type ii pneumocyte morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored (Mammalian Phenotype Ontology, MP_0002275)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002275
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Genes

44 gene mutations causing the abnormal type ii pneumocyte morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADGRF5 adhesion G protein-coupled receptor F5
BMPER BMP binding endothelial regulator
CAV1 caveolin 1, caveolae protein, 22kDa
CBY1 chibby homolog 1 (Drosophila)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CTGF connective tissue growth factor
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
EGFR epidermal growth factor receptor
EPAS1 endothelial PAS domain protein 1
ERRFI1 ERBB receptor feedback inhibitor 1
FSTL1 follistatin-like 1
GLI2 GLI family zinc finger 2
HBEGF heparin-binding EGF-like growth factor
HOPX HOP homeobox
HOXA5 homeobox A5
HPS1 Hermansky-Pudlak syndrome 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IGF1 insulin-like growth factor 1 (somatomedin C)
LHX4 LIM homeobox 4
LIPA lipase A, lysosomal acid, cholesterol esterase
LRRK2 leucine-rich repeat kinase 2
LYST lysosomal trafficking regulator
LYZ lysozyme
MAPK6 mitogen-activated protein kinase 6
NABP2 nucleic acid binding protein 2
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NKX2-1 NK2 homeobox 1
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTHLH parathyroid hormone-like hormone
RAB38 RAB38, member RAS oncogene family
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
TCF21 transcription factor 21
TGFB3 transforming growth factor, beta 3
TMEM38B transmembrane protein 38B