abnormal stationary movement Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description altered ability or inability to change body posture or shift a body part (Mammalian Phenotype Ontology, MP_0001388)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001388
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Genes

151 gene mutations causing the abnormal stationary movement phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADCY5 adenylate cyclase 5
AFF1 AF4/FMR2 family, member 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATF2 activating transcription factor 2
ATG4B autophagy related 4B, cysteine peptidase
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3
BAHCC1 BAH domain and coiled-coil containing 1
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
BDNF brain-derived neurotrophic factor
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative)
CDH23 cadherin-related 23
CDH8 cadherin 8, type 2
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHD7 chromodomain helicase DNA binding protein 7
CLCN1 chloride channel, voltage-sensitive 1
CLIC5 chloride intracellular channel 5
CLK1 CDC-like kinase 1
CLRN1 clarin 1
CLSTN1 calsyntenin 1
COL2A1 collagen, type II, alpha 1
CPLX2 complexin 2
CTNNA2 catenin (cadherin-associated protein), alpha 2
CTSD cathepsin D
CYBA cytochrome b-245, alpha polypeptide
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DFNB31 deafness, autosomal recessive 31
DNASE1L2 deoxyribonuclease I-like 2
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
EFNB2 ephrin-B2
ELMOD1 ELMO/CED-12 domain containing 1
EPHB2 EPH receptor B2
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM151B family with sequence similarity 151, member B
FEZF2 FEZ family zinc finger 2
FGF3 fibroblast growth factor 3
FIGN fidgetin
FOXI1 forkhead box I1
FOXP2 forkhead box P2
FOXP3 forkhead box P3
GFI1 growth factor independent 1 transcription repressor
GLI2 GLI family zinc finger 2
GRID2 glutamate receptor, ionotropic, delta 2
GRXCR1 glutaredoxin, cysteine rich 1
HEXB hexosaminidase B (beta polypeptide)
HMX2 H6 family homeobox 2
HOXD10 homeobox D10
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IL6 interleukin 6
IREB2 iron-responsive element binding protein 2
JAG1 jagged 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KLF14 Kruppel-like factor 14
LHFPL5 lipoma HMGIC fusion partner-like 5
LMNA lamin A/C
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
LRIG3 leucine-rich repeats and immunoglobulin-like domains 3
LRP6 low density lipoprotein receptor-related protein 6
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
LTN1 listerin E3 ubiquitin protein ligase 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAOA monoamine oxidase A
MAPKBP1 mitogen-activated protein kinase binding protein 1
MARCH9 membrane-associated ring finger (C3HC4) 9
MCOLN3 mucolipin 3
MIR96 microRNA 96
MRO maestro
MYO15A myosin XVA
MYO6 myosin VI
MYO7A myosin VIIA
NDFIP2 Nedd4 family interacting protein 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEUROD1 neuronal differentiation 1
NOX3 NADPH oxidase 3
NOXO1 NADPH oxidase organizer 1
NTAN1 N-terminal asparagine amidase
OPN4 opsin 4
OTC ornithine carbamoyltransferase
OTOG otogelin
OTOP1 otopetrin 1
OTX1 orthodenticle homeobox 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PCCA propionyl CoA carboxylase, alpha polypeptide
PCDH15 protocadherin-related 15
PEX13 peroxisomal biogenesis factor 13
PEX2 peroxisomal biogenesis factor 2
PHEX phosphate regulating endopeptidase homolog, X-linked
POU3F4 POU class 3 homeobox 4
POU4F1 POU class 4 homeobox 1
POU4F2 POU class 4 homeobox 2
POU4F3 POU class 4 homeobox 3
PRDX6 peroxiredoxin 6
PRSS50 protease, serine, 50
PSAP prosaposin
PURA purine-rich element binding protein A
QKI QKI, KH domain containing, RNA binding
S1PR2 sphingosine-1-phosphate receptor 2
SCN10A sodium channel, voltage gated, type X alpha subunit
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCX scleraxis basic helix-loop-helix transcription factor
SCYL1 SCY1-like 1 (S. cerevisiae)
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SFRP2 secreted frizzled-related protein 2
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC1A7 solute carrier family 1 (glutamate transporter), member 7
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX2 SRY (sex determining region Y)-box 2
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPTBN4 spectrin, beta, non-erythrocytic 4
SRRM4 serine/arginine repetitive matrix 4
SYNGAP1 synaptic Ras GTPase activating protein 1
TBX1 T-box 1
TBX10 T-box 10
TH tyrosine hydroxylase
THBS2 thrombospondin 2
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TTLL1 tubulin tyrosine ligase-like family member 1
TTPA tocopherol (alpha) transfer protein
UBE3A ubiquitin protein ligase E3A
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT8 UDP glycosyltransferase 8
UNC5C unc-5 homolog C (C. elegans)
UNC79 unc-79 homolog (C. elegans)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
VANGL2 VANGL planar cell polarity protein 2
YIPF1 Yip1 domain family, member 1
ZEB1 zinc finger E-box binding homeobox 1