hunched posture Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description stooped low with the limbs pulled in close to the body and arched back (Mammalian Phenotype Ontology, MP_0001505)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001505
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Genes

79 gene mutations causing the hunched posture phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACHE acetylcholinesterase (Yt blood group)
APC adenomatous polyposis coli
APRT adenine phosphoribosyltransferase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BTD biotinidase
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D1A coiled-coil and C2 domain containing 1A
COL5A2 collagen, type V, alpha 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYLD cylindromatosis (turban tumor syndrome)
DCR Down syndrome chromosome region
DNM1 dynamin 1
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
EBF2 early B-cell factor 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FBN1 fibrillin 1
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FOXA2 forkhead box A2
FOXP3 forkhead box P3
FSHR follicle stimulating hormone receptor
FZD4 frizzled class receptor 4
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GRM1 glutamate receptor, metabotropic 1
HOXA4 homeobox A4
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTRA2 HtrA serine peptidase 2
IL2 interleukin 2
ILK integrin-linked kinase
KAT2A K(lysine) acetyltransferase 2A
KAT6A K(lysine) acetyltransferase 6A
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KMT2A lysine (K)-specific methyltransferase 2A
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
LYZ lysozyme
MAOA monoamine oxidase A
MCM2 minichromosome maintenance complex component 2
MCOLN1 mucolipin 1
MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NLRP6 NLR family, pyrin domain containing 6
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NPR3 natriuretic peptide receptor 3
NTF3 neurotrophin 3
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PBX1 pre-B-cell leukemia homeobox 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PRF1 perforin 1 (pore forming protein)
PSIP1 PC4 and SFRS1 interacting protein 1
PTPN2 protein tyrosine phosphatase, non-receptor type 2
RAB27A RAB27A, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1 retinoblastoma 1
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
STX11 syntaxin 11
TGFB1 transforming growth factor, beta 1
TIMP3 TIMP metallopeptidase inhibitor 3
TK1 thymidine kinase 1, soluble
TPP1 tripeptidyl peptidase I
TRAK1 trafficking protein, kinesin binding 1
VIPR1 vasoactive intestinal peptide receptor 1
ZMPSTE24 zinc metallopeptidase STE24