dilated renal tubules Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description stretched or widened aperture of the luminal space of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule (Mammalian Phenotype Ontology, MP_0002705)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002705
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Genes

83 gene mutations causing the dilated renal tubules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTN4 actinin, alpha 4
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ALMS1 Alstrom syndrome protein 1
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARL3 ADP-ribosylation factor-like 3
ASIP agouti signaling protein
BAG6 BCL2-associated athanogene 6
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BDKRB2 bradykinin receptor B2
CD151 CD151 molecule (Raph blood group)
CDH4 cadherin 4, type 1, R-cadherin (retinal)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
CRB3 crumbs family member 3
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DCHS1 dachsous cadherin-related 1
DCN decorin
ERCC1 excision repair cross-complementation group 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM20A family with sequence similarity 20, member A
FGFR2 fibroblast growth factor receptor 2
G6PC glucose-6-phosphatase, catalytic subunit
GADD45A growth arrest and DNA-damage-inducible, alpha
GLIS2 GLIS family zinc finger 2
GLIS3 GLIS family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPC3 glypican 3
HELLS helicase, lymphoid-specific
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IFT88 intraflagellar transport 88
INVS inversin
KIRREL kin of IRRE like (Drosophila)
LAMA5 laminin, alpha 5
LIMK2 LIM domain kinase 2
LIN7C lin-7 homolog C (C. elegans)
LRRK2 leucine-rich repeat kinase 2
LTBP1 latent transforming growth factor beta binding protein 1
LZTS2 leucine zipper, putative tumor suppressor 2
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MPV17 MpV17 mitochondrial inner membrane protein
MTSS1 metastasis suppressor 1
NEK8 NIMA-related kinase 8
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NFIA nuclear factor I/A
NOS3 nitric oxide synthase 3 (endothelial cell)
NPHP3 nephronophthisis 3 (adolescent)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
REN renin
RET ret proto-oncogene
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SALL1 spalt-like transcription factor 1
SDC4 syndecan 4
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SPP1 secreted phosphoprotein 1
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFCP2L1 transcription factor CP2-like 1
TGFB2 transforming growth factor, beta 2
TLR4 toll-like receptor 4
TNS1 tensin 1
TNS2 tensin 2
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TTC8 tetratricopeptide repeat domain 8
UOX urate oxidase, pseudogene
VEGFA vascular endothelial growth factor A
WNT9B wingless-type MMTV integration site family, member 9B
WT1 Wilms tumor 1
WWTR1 WW domain containing transcription regulator 1
XDH xanthine dehydrogenase
XYLT2 xylosyltransferase II