abnormal motile cilium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles (Mammalian Phenotype Ontology, MP_0013206)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013206
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107 gene mutations causing the abnormal motile cilium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADCY10 adenylate cyclase 10 (soluble)
ADGRG2 adhesion G protein-coupled receptor G2
AGFG1 ArfGAP with FG repeats 1
AHR aryl hydrocarbon receptor
AK7 adenylate kinase 7
AKAP4 A kinase (PRKA) anchor protein 4
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ATAT1 alpha tubulin acetyltransferase 1
ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BRWD1 bromodomain and WD repeat domain containing 1
CADM1 cell adhesion molecule 1
CAMK4 calcium/calmodulin-dependent protein kinase IV
CBY1 chibby homolog 1 (Drosophila)
CDK16 cyclin-dependent kinase 16
CLIP1 CAP-GLY domain containing linker protein 1
CNBD2 cyclic nucleotide binding domain containing 2
CNOT7 CCR4-NOT transcription complex, subunit 7
CRB3 crumbs family member 3
CSNK2A2 casein kinase 2, alpha prime polypeptide
CUL4A cullin 4A
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DNAH5 dynein, axonemal, heavy chain 5
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DPY19L2 dpy-19-like 2 (C. elegans)
EGR4 early growth response 4
ENO4 enolase family member 4
ESR1 estrogen receptor 1
FHL5 four and a half LIM domains 5
FKBP4 FK506 binding protein 4, 59kDa
FOXI1 forkhead box I1
FOXJ1 forkhead box J1
FOXN1 forkhead box N1
FSHR follicle stimulating hormone receptor
GMCL1 germ cell-less, spermatogenesis associated 1
GNRHR gonadotropin-releasing hormone receptor
GOLGA3 golgin A3
GOPC golgi-associated PDZ and coiled-coil motif containing
GPX4 glutathione peroxidase 4
GRID2 glutamate receptor, ionotropic, delta 2
HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4
HOOK1 hook microtubule-tethering protein 1
HYDIN HYDIN, axonemal central pair apparatus protein
IDO1 indoleamine 2,3-dioxygenase 1
ING2 inhibitor of growth family, member 2
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KIF19 kinesin family member 19
KRT19 keratin 19, type I
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
MEIG1 meiosis/spermiogenesis associated 1
MKKS McKusick-Kaufman syndrome
MNS1 meiosis-specific nuclear structural 1
NEURL1 neuralized E3 ubiquitin protein ligase 1
NME5 NME/NM23 family member 5
NPC1 Niemann-Pick disease, type C1
NPHP1 nephronophthisis 1 (juvenile)
NSUN7 NOP2/Sun domain family, member 7
NUP210L nucleoporin 210kDa-like
OAZ3 ornithine decarboxylase antizyme 3
OCA2 oculocutaneous albinism II
ODF1 outer dense fiber of sperm tails 1
ODF2 outer dense fiber of sperm tails 2
PICK1 protein interacting with PRKCA 1
PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha
PLA2G3 phospholipase A2, group III
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme
PRND prion protein 2 (dublet)
PRSS21 protease, serine, 21 (testisin)
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B)
QKI QKI, KH domain containing, RNA binding
RABL2A RAB, member of RAS oncogene family-like 2A
RIMBP3 RIMS binding protein 3
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RXRB retinoid X receptor, beta
SEPP1 selenoprotein P, plasma, 1
SEPT12 septin 12
SEPT4 septin 4
SIRT1 sirtuin 1
SLC26A8 solute carrier family 26 (anion exchanger), member 8
SLIRP SRA stem-loop interacting RNA binding protein
SPACA1 sperm acrosome associated 1
SPAG16 sperm associated antigen 16
SPAG6 sperm associated antigen 6
SPEF2 sperm flagellar 2
SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa
TALDO1 transaldolase 1
TCTE3 t-complex-associated-testis-expressed 3
TEKT2 tektin 2 (testicular)
TEKT3 tektin 3
TEKT4 tektin 4
THEG theg spermatid protein
TMF1 TATA element modulatory factor 1
TNP1 transition protein 1 (during histone to protamine replacement)
TNP2 transition protein 2 (during histone to protamine replacement)
TPGS1 tubulin polyglutamylase complex subunit 1
TTLL1 tubulin tyrosine ligase-like family member 1
TTLL5 tubulin tyrosine ligase-like family member 5
UBE2B ubiquitin-conjugating enzyme E2B
ULK4 unc-51 like kinase 4
VDAC3 voltage-dependent anion channel 3
ZFP42 ZFP42 zinc finger protein
ZPBP zona pellucida binding protein