abnormal astrocyte morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord; astrocytes are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier; astrocytes regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury (Mammalian Phenotype Ontology, MP_0002182)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002182
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Genes

96 gene mutations causing the abnormal astrocyte morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ACP2 acid phosphatase 2, lysosomal
AGA aspartylglucosaminidase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APP amyloid beta (A4) precursor protein
ARSA arylsulfatase A
ARSG arylsulfatase G
ASPA aspartoacylase
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATR ATR serine/threonine kinase
ATRN attractin
BRAF B-Raf proto-oncogene, serine/threonine kinase
CADM1 cell adhesion molecule 1
CANX calnexin
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CD81 CD81 molecule
CERS1 ceramide synthase 1
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CNTF ciliary neurotrophic factor
CNTNAP2 contactin associated protein-like 2
COL4A1 collagen, type IV, alpha 1
COQ9 coenzyme Q9
CP ceruloplasmin (ferroxidase)
DCR Down syndrome chromosome region
DNAI1 dynein, axonemal, intermediate chain 1
DRD2 dopamine receptor D2
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EN1 engrailed homeobox 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESR2 estrogen receptor 2 (ER beta)
FA2H fatty acid 2-hydroxylase
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXJ1 forkhead box J1
FSHR follicle stimulating hormone receptor
GALC galactosylceramidase
GBA glucosidase, beta, acid
GFAP glial fibrillary acidic protein
GJC2 gap junction protein, gamma 2, 47kDa
GRN granulin
HAX1 HCLS1 associated protein X-1
HFE hemochromatosis
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSF1 heat shock transcription factor 1
HTRA2 HtrA serine peptidase 2
HTT huntingtin
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INS insulin
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
LDLR low density lipoprotein receptor
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LTN1 listerin E3 ubiquitin protein ligase 1
MFSD8 major facilitator superfamily domain containing 8
MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MT3 metallothionein 3
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NFE2L2 nuclear factor, erythroid 2-like 2
NPC1 Niemann-Pick disease, type C1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
PDGFB platelet-derived growth factor beta polypeptide
PEA15 phosphoprotein enriched in astrocytes 15
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PLP1 proteolipid protein 1
POU3F2 POU class 3 homeobox 2
PPT1 palmitoyl-protein thioesterase 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PSAP prosaposin
PTPN6 protein tyrosine phosphatase, non-receptor type 6
SCYL1 SCY1-like 1 (S. cerevisiae)
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SIM1 single-minded family bHLH transcription factor 1
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNTA1 syntrophin, alpha 1
SPI1 Spi-1 proto-oncogene
SUMF1 sulfatase modifying factor 1
TK2 thymidine kinase 2, mitochondrial
TLR2 toll-like receptor 2
TRIB2 tribbles pseudokinase 2
TSPAN2 tetraspanin 2
VAC14 Vac14 homolog (S. cerevisiae)
VEGFA vascular endothelial growth factor A
VIM vimentin
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)