Disease table of MICROCEPHALY AND CHORIORETINOPATHY OMIM ID: PS251270

Gene-disease associations table

GeneAssociated with MICROCEPHALY AND CHORIORETINOPATHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TUBGCP4ClinVar, OMIMHGNC link15q15.31PS251270
PLK4ClinVar, OMIMHGNC link4q28.11PS251270
TUBGCP6ClinVar, OMIMHGNC link22q13.331PS251270

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TUBGCP4PLK4No2NEDD1, FBXW11
TUBGCP4TUBGCP6Yes10NEDD1, TUBGCP5, SCAF11, MZT1, TUBGCP3, MZT2B, MZT2, TUBG1, TUBGCP2, FBXW11
PLK4TUBGCP6No3NEDD1, FBXW11, CDK5RAP2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
TUBGCP4PLK4Yesbinding61CEP76, TUBGCP5, CDK1, CDK5RAP2, CEP57, CSNK1E, TUBG2, ACTR1A, YWHAE, CEP152, CEP70, ALMS1, CSNK1D, NEK2, TUBG1, MAPRE1, TUBA4A, TUBGCP6, PRKACA, SDCCAG8, CEP192, SFI1, DCTN2, CEP250, DYNLL1, OFD1, CNTRL, DYNC1H1, TUBA1A, DYNC1I2, CEP135, PCNT, TUBGCP2, CEP164, NEDD1, CEP63, CCP110, DCTN3, CKAP5, AZI1, PRKAR2B, TUBB4B, HSP90AA1, ODF2, CENPJ, NINL, PAFAH1B1, CEP78, FGFR1OP, PPP2R1A, PCM1, TUBGCP3, CEP290, HAUS2, SSNA1, CLASP1, PLK1, CEP72, YWHAG, TUBB4A, NDE1
TUBGCP4TUBGCP6Yesbinding68CEP76, TUBGCP5, CDK1, CDK5RAP2, CEP57, CSNK1E, TUBG2, TOPORS, NUMA1, CEP152, FGFR1OP, ALMS1, CSNK1D, PLK1, TUBG1, MAPRE1, TUBA4A, PRKACA, CEP135, CEP192, SFI1, DCTN2, BLOC1S2, CKAP5, DYNLL1, OFD1, CNTRL, DYNC1H1, TUBA1A, DYNC1I2, SDCCAG8, PCNT, BRCA1, ACTR1A, CEP164, NEDD1, CEP63, CCP110, DCTN3, YWHAE, AZI1, PRKAR2B, TUBB4B, HSP90AA1, ODF2, CENPJ, CEP250, NINL, PAFAH1B1, CEP78, MZT1, PPP2R1A, TUBGCP2, PCM1, TUBGCP3, CEP290, HAUS2, SSNA1, CLASP1, NEK2, MZT2B, CEP72, YWHAG, TUBB4A, MZT2A, PLK4, NDE1, CEP70
PLK4TUBGCP6Yesbinding61CEP76, TUBGCP5, CDK1, CDK5RAP2, CEP57, CSNK1E, TUBG2, ACTR1A, YWHAE, CEP152, FGFR1OP, ALMS1, CSNK1D, NEK2, TUBG1, MAPRE1, TUBA4A, PRKACA, SDCCAG8, HSP90AA1, CEP192, SFI1, HAUS2, CEP250, DYNLL1, OFD1, CNTRL, DYNC1H1, TUBA1A, DYNC1I2, CEP135, PCNT, TUBGCP2, CEP164, NEDD1, CEP63, CCP110, DCTN3, CKAP5, AZI1, PRKAR2B, TUBB4B, CEP78, ODF2, CENPJ, NINL, PAFAH1B1, CEP70, PPP2R1A, PCM1, TUBGCP3, CEP290, DCTN2, SSNA1, CLASP1, PLK1, TUBGCP4, CEP72, YWHAG, TUBB4A, NDE1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
TUBGCP4TUBGCP6yes, complexGamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Recruitment of mitotic centrosome proteins and complexesR-HSA-3802706.683PLK4, TUBGCP6, TUBGCP4
Centrosome maturationR-HSA-3802876.683PLK4, TUBGCP6, TUBGCP4
Mitotic G2-G2/M phasesR-HSA-4532746.043PLK4, TUBGCP6, TUBGCP4
Cell Cycle, MitoticR-HSA-692784.163PLK4, TUBGCP6, TUBGCP4
Cell CycleR-HSA-16401703.893PLK4, TUBGCP6, TUBGCP4
G2/M TransitionR-HSA-692756.063PLK4, TUBGCP6, TUBGCP4
Recruitment of NuMA to mitotic centrosomesR-HSA-3803208.462TUBGCP6, TUBGCP4

NET-GE enrichment

Term New enriched termICP valueGenes
Recruitment of mitotic centrosome proteins and complexes (R-HSA-380270) -6.680.0PLK4, TUBGCP6, TUBGCP4
Recruitment of NuMA to mitotic centrosomes (R-HSA-380320) -8.460.002TUBGCP6, TUBGCP4
Mitotic G2-G2/M phases (R-HSA-453274) -6.040.001PLK4, TUBGCP6, TUBGCP4
Anchoring of the basal body to the plasma membrane (R-HSA-5620912) NEW6.510.033PLK4, TUBGCP4
Cell Cycle, Mitotic (R-HSA-69278) -4.160.04PLK4, TUBGCP6, TUBGCP4
Cell Cycle (R-HSA-1640170) -3.890.004PLK4, TUBGCP6, TUBGCP4
Centrosome maturation (R-HSA-380287) -6.680.0PLK4, TUBGCP6, TUBGCP4
G2/M Transition (R-HSA-69275) -6.060.0PLK4, TUBGCP6, TUBGCP4
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183PLK4, TUBGCP6, TUBGCP4
protein binding (GO:0005515) 0.463PLK4, TUBGCP6, TUBGCP4
tubulin binding (GO:0015631) 4.12TUBGCP6, TUBGCP4
structural constituent of cytoskeleton (GO:0005200) 5.122TUBGCP6, TUBGCP4
cytoskeletal protein binding (GO:0008092) 3.022TUBGCP6, TUBGCP4
microtubule binding (GO:0008017) 4.422TUBGCP6, TUBGCP4
structural molecule activity (GO:0005198) 3.12TUBGCP6, TUBGCP4
gamma-tubulin binding (GO:0043015) 6.562TUBGCP6, TUBGCP4
microtubule minus-end binding (GO:0051011) 7.662TUBGCP6, TUBGCP4
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organelle organization (GO:0006996) 2.023PLK4, TUBGCP6, TUBGCP4
cellular component assembly (GO:0022607) 2.143PLK4, TUBGCP6, TUBGCP4
mitotic cell cycle process (GO:1903047) 3.123PLK4, TUBGCP6, TUBGCP4
centrosome organization (GO:0051297) 5.383PLK4, TUBGCP6, TUBGCP4
cellular process (GO:0009987) 0.263PLK4, TUBGCP6, TUBGCP4
cellular component organization (GO:0016043) 1.243PLK4, TUBGCP6, TUBGCP4
reproductive process (GO:0022414) 2.553PLK4, TUBGCP6, TUBGCP4
single-organism organelle organization (GO:1902589) 2.683PLK4, TUBGCP6, TUBGCP4
microtubule organizing center organization (GO:0031023) 5.263PLK4, TUBGCP6, TUBGCP4
cell cycle process (GO:0022402) 2.753PLK4, TUBGCP6, TUBGCP4
cellular component organization or biogenesis (GO:0071840) 1.223PLK4, TUBGCP6, TUBGCP4
single-organism cellular process (GO:0044763) 0.653PLK4, TUBGCP6, TUBGCP4
organelle assembly (GO:0070925) 3.753PLK4, TUBGCP6, TUBGCP4
single-organism process (GO:0044699) 0.483PLK4, TUBGCP6, TUBGCP4
microtubule-based process (GO:0007017) 3.543PLK4, TUBGCP6, TUBGCP4
microtubule nucleation (GO:0007020) 6.842TUBGCP6, TUBGCP4
meiotic nuclear division (GO:0007126) 5.372TUBGCP6, TUBGCP4
cytoskeleton organization (GO:0007010) 3.222TUBGCP6, TUBGCP4
centrosome duplication (GO:0051298) 6.782TUBGCP6, TUBGCP4
nuclear division (GO:0000280) 3.852TUBGCP6, TUBGCP4
meiotic cell cycle process (GO:1903046) 4.712TUBGCP6, TUBGCP4
spindle organization (GO:0007051) 5.332TUBGCP6, TUBGCP4
interphase microtubule nucleation by interphase microtubule organizing center (GO:0051415) 8.122TUBGCP6, TUBGCP4
mitotic spindle assembly (GO:0090307) 6.172TUBGCP6, TUBGCP4
microtubule cytoskeleton organization (GO:0000226) 4.132TUBGCP6, TUBGCP4
organelle fission (GO:0048285) 3.792TUBGCP6, TUBGCP4
microtubule cytoskeleton organization involved in mitosis (GO:1902850) 6.172TUBGCP6, TUBGCP4
cytoplasmic microtubule organization (GO:0031122) 5.972TUBGCP6, TUBGCP4
spindle assembly (GO:0051225) 5.572TUBGCP6, TUBGCP4
microtubule nucleation by microtubule organizing center (GO:0051418) 8.122TUBGCP6, TUBGCP4

NET-GE enrichment

Term New enriched termICP valueGenes
microtubule nucleation (GO:0007020) -6.840.001TUBGCP6, TUBGCP4
microtubule-based process (GO:0007017) -3.540.001PLK4, TUBGCP6, TUBGCP4
mitotic cell cycle (GO:0000278) NEW5.920.001PLK4, TUBGCP6, TUBGCP4
cell cycle G2/M phase transition (GO:0044839) NEW4.820.0PLK4, TUBGCP6, TUBGCP4
G2/M transition of mitotic cell cycle (GO:0000086) NEW4.840.0PLK4, TUBGCP6, TUBGCP4
centriole assembly (GO:0098534) NEW6.780.001PLK4, TUBGCP4
single-organism organelle organization (GO:1902589) -2.680.029PLK4, TUBGCP6, TUBGCP4
axon cargo transport (GO:0008088) NEW6.120.026TUBGCP6, TUBGCP4
cell cycle phase transition (GO:0044770) NEW4.240.0PLK4, TUBGCP6, TUBGCP4
mitotic cell cycle phase transition (GO:0044772) NEW4.270.011PLK4, TUBGCP6, TUBGCP4
microtubule cytoskeleton organization (GO:0000226) -4.130.042TUBGCP6, TUBGCP4
mitotic cell cycle process (GO:1903047) -3.120.004PLK4, TUBGCP6, TUBGCP4
de novo centriole assembly (GO:0098535) NEW8.120.0PLK4, TUBGCP4
cell cycle process (GO:0022402) -2.750.012PLK4, TUBGCP6, TUBGCP4
cell cycle (GO:0007049) NEW3.140.003PLK4, TUBGCP6, TUBGCP4
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoskeleton (GO:0005856) 2.553PLK4, TUBGCP6, TUBGCP4
cytoplasm (GO:0005737) 1.013PLK4, TUBGCP6, TUBGCP4
intracellular non-membrane-bounded organelle (GO:0043232) 1.763PLK4, TUBGCP6, TUBGCP4
cell part (GO:0044464) 0.113PLK4, TUBGCP6, TUBGCP4
cytosol (GO:0005829) 1.683PLK4, TUBGCP6, TUBGCP4
cell division site part (GO:0032155) 5.853PLK4, TUBGCP6, TUBGCP4
cytoplasmic part (GO:0044444) 0.823PLK4, TUBGCP6, TUBGCP4
microtubule organizing center (GO:0005815) 3.423PLK4, TUBGCP6, TUBGCP4
intracellular organelle part (GO:0044446) 0.813PLK4, TUBGCP6, TUBGCP4
intracellular organelle (GO:0043229) 0.513PLK4, TUBGCP6, TUBGCP4
non-membrane-bounded organelle (GO:0043228) 1.763PLK4, TUBGCP6, TUBGCP4
cytoskeletal part (GO:0044430) 2.493PLK4, TUBGCP6, TUBGCP4
centrosome (GO:0005813) 3.753PLK4, TUBGCP6, TUBGCP4
intracellular part (GO:0044424) 0.283PLK4, TUBGCP6, TUBGCP4
membrane-bounded organelle (GO:0043227) 0.473PLK4, TUBGCP6, TUBGCP4
organelle (GO:0043226) 0.43PLK4, TUBGCP6, TUBGCP4
organelle part (GO:0044422) 0.793PLK4, TUBGCP6, TUBGCP4
microtubule organizing center part (GO:0044450) 4.83PLK4, TUBGCP6, TUBGCP4
protein complex (GO:0043234) 1.512TUBGCP6, TUBGCP4
supramolecular fiber (GO:0099512) 3.312TUBGCP6, TUBGCP4
polymeric cytoskeletal fiber (GO:0099513) 3.312TUBGCP6, TUBGCP4
membrane (GO:0016020) 0.682TUBGCP6, TUBGCP4
spindle pole body (GO:0005816) 7.862TUBGCP6, TUBGCP4
equatorial microtubule organizing center (GO:0000923) 8.192TUBGCP6, TUBGCP4
spindle pole (GO:0000922) 5.082TUBGCP6, TUBGCP4
gamma-tubulin ring complex (GO:0008274) 7.862TUBGCP6, TUBGCP4
gamma-tubulin complex (GO:0000930) 6.812TUBGCP6, TUBGCP4
macromolecular complex (GO:0032991) 1.352TUBGCP6, TUBGCP4
gamma-tubulin large complex (GO:0000931) 7.862TUBGCP6, TUBGCP4
microtubule (GO:0005874) 3.812TUBGCP6, TUBGCP4
intracellular membrane-bounded organelle (GO:0043231) 0.62PLK4, TUBGCP4

NET-GE enrichment

Term New enriched termICP valueGenes
centriole (GO:0005814) NEW5.150.019PLK4, TUBGCP4
centrosome (GO:0005813) -3.750.011PLK4, TUBGCP6, TUBGCP4
gamma-tubulin complex (GO:0000930) -6.810.0TUBGCP6, TUBGCP4
microtubule organizing center (GO:0005815) -3.420.036PLK4, TUBGCP6, TUBGCP4
gamma-tubulin ring complex (GO:0008274) -7.860.0TUBGCP6, TUBGCP4
cytoskeletal part (GO:0044430) -2.490.018PLK4, TUBGCP6, TUBGCP4
microtubule organizing center part (GO:0044450) -4.80.0PLK4, TUBGCP6, TUBGCP4
gamma-tubulin large complex (GO:0000931) -7.860.0TUBGCP6, TUBGCP4
spindle pole (GO:0000922) -5.080.024TUBGCP6, TUBGCP4
microtubule (GO:0005874) -3.810.038PLK4, TUBGCP6, TUBGCP4
deuterosome (GO:0098536) NEW8.190.0PLK4, TUBGCP4