Entity Details

Primary name CEP120
Entity type gene
Source Source Link

Details

PrimaryID153241
RefseqGeneNG_042125
SymbolCEP120
Namecentrosomal protein 120
Chromosome5
Location5q23.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCE120_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0007098 centrosome cycle
GO:0008022 protein C-terminus binding
GO:0010825 positive regulation of centrosome duplication
GO:0021987 cerebral cortex development
GO:0022008 neurogenesis
GO:0022027 interkinetic nuclear migration
GO:0030953 astral microtubule organization
GO:0045724 positive regulation of cilium assembly
GO:1903724 positive regulation of centriole elongation
GO:1904951 positive regulation of establishment of protein localization

Diseases

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Disease IDSourceNameDescription
616300 OMIMShort-rib thoracic dysplasia 13 with or without polydactyly (SRTD13)A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. The disease is caused by variants affecting the gene represented in this entry.
617761 OMIMJoubert syndrome 31 (JBTS31)A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS31 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

97 interactions

InteractorPartnerSourcesPublicationsLink
CEP120STAT3BioGRID, IntAct21988832 details
CEP120PEA15BioGRID24710276 details
CEP120PSMG1BioGRID, IntAct27173435 unassigned1312 details
CEP120POMPBioGRID, IntAct27173435 unassigned1312 details
CEP120CHORDC1BioGRID, IntAct26496610 details
CEP120MTX2BioGRID, IntAct26496610 details
CEP120CEP162BioGRID, IntAct26638075 details
CEP120ANK2BioGRID, IntAct26638075 details
CEP120PCM1BioGRID, IntAct26638075 34079125 details
CEP120KIAA0753BioGRID, IntAct26638075 details
CEP120ODF2BioGRID, IntAct26638075 details
CEP120CEP128BioGRID, IntAct26638075 details
CEP120LCA5BioGRID, IntAct26638075 details
CEP120CEP135BioGRID, IntAct26638075 34079125 details
CEP120SPICE1BioGRID, IntAct26638075 28514442 details
CEP120CNTROBBioGRID, IntAct26638075 details
CEP120KNL1BioGRID, IntAct26638075 details
CEP120WDR83BioGRID, IntAct26638075 details
CEP120CCDC77BioGRID, IntAct26638075 details
CEP120TNRC6BBioGRID, IntAct26638075 details
CEP120CKBBioGRID, IntAct26638075 details
CEP120RPAP2BioGRID, IntAct26638075 details
CEP120ZC2HC1ABioGRID, IntAct26638075 details
CEP120CCDC138BioGRID, IntAct26638075 details
CEP120CEP43BioGRID, IntAct26638075 details
CEP120CEP72BioGRID, IntAct26638075 details
CEP120CEP131BioGRID, IntAct26638075 details
CEP120CEP152BioGRID, IntAct26638075 details
CEP120HAUS4BioGRID, IntAct26638075 details
CEP120KIF14BioGRID, IntAct26638075 details
CEP120ANAPC1BioGRID, IntAct26638075 details
CEP120IPMKBioGRID, IntAct26638075 details
CEP120LIMCH1BioGRID, IntAct26638075 details
CEP120EPPK1BioGRID, IntAct26638075 details
CEP120BTF3BioGRID, IntAct26638075 details
CEP120FANCIBioGRID, IntAct26638075 details
CEP120UNC45ABioGRID, IntAct26638075 details
CEP120HAUS2BioGRID, IntAct26638075 details
CEP120CEP170BioGRID, IntAct26638075 details
CEP120HAUS1BioGRID, IntAct26638075 details
CEP120CCDC66BioGRID, IntAct26638075 details
CEP120TTF2BioGRID, IntAct26638075 details
CEP120XRN1BioGRID, IntAct26638075 details
CEP120TTC28BioGRID, IntAct26638075 details
CEP120LRRC49BioGRID, IntAct26638075 details
CEP120KIAA0586BioGRID, IntAct26638075 details
CEP120CKAP2BioGRID, IntAct26638075 details
CEP120MAP7D3BioGRID, IntAct26638075 details
CEP120TP53BP2BioGRID, IntAct26638075 details
CEP120MPHOSPH9BioGRID, IntAct26638075 details
CEP120CEP192BioGRID, IntAct26638075 details
CEP120GPATCH1BioGRID, IntAct26638075 details
CEP120CEP350BioGRID, IntAct26638075 details
CEP120HAUS8BioGRID, IntAct26638075 details
CEP120TTKBioGRID, IntAct26638075 details
CEP120YEATS2BioGRID, IntAct26638075 details
CEP120CEP95BioGRID, IntAct26638075 details
CEP120WRAP73BioGRID, IntAct26638075 details
CEP120CEP55BioGRID, IntAct26638075 details
CEP120CEP295BioGRID, IntAct26638075 details
CEP120LUZP1BioGRID, IntAct26638075 details
CEP120PIBF1BioGRID, IntAct26638075 details
CEP120RAPGEF6BioGRID, IntAct26638075 details
CEP120KIAA1671BioGRID, IntAct26638075 details
CEP120OFD1BioGRID, IntAct26638075 details
CEP120TBC1D31BioGRID, IntAct26638075 details
CEP120SSX2IPBioGRID, IntAct26638075 details
CEP120ENTR1BioGRID, IntAct26638075 details
CEP120HAUS7BioGRID, IntAct26638075 details
CEP120DVL3BioGRID, IntAct26638075 details
CEP120CENPJBioGRID, IntAct24613305 26638075 details
CEP120MED4BioGRID, IntAct26638075 details
CEP120ALMS1BioGRID, IntAct26638075 details
CEP120NCAPD2BioGRID, IntAct26638075 details
CEP120HAUS6BioGRID, IntAct26638075 details
CEP120CDC123BioGRID, IntAct26638075 details
CEP120ARHGAP21BioGRID, IntAct26638075 details
CEP120ECH1BioGRID, IntAct26638075 details
CEP120IBTKBioGRID, IntAct26638075 details
CEP120NAP1L4BioGRID, IntAct26638075 details
CEP120CAMSAP1BioGRID, IntAct26638075 details
CEP120TP53BioGRID, IntAct26638075 details
CEP120LTV1BioGRID, IntAct26638075 details
CEP120CCP110BioGRID, IntAct26638075 details
CEP120CSPP1BioGRID, IntAct26638075 details
CEP120CNOT11BioGRID, IntAct26638075 details
CEP120NAP1L1BioGRID, IntAct26638075 details
CEP120PDCD2LBioGRID, IntAct26638075 details
CEP120WDCPBioGRID, IntAct26638075 details
CEP120HAUS3BioGRID, IntAct26638075 details
CEP120HAUS5BioGRID, IntAct26638075 details
CEP120CEP97BioGRID, IntAct26638075 details
CEP120LTBRBioGRID, IntAct26186194 28514442 details
CEP120NOL7BioGRID, IntAct28514442 details
CEP120HLXBioGRID, IntAct28514442 details
CEP120C9orf78BioGRID, IntAct26186194 28514442 details
CEP120BICD1BioGRID28718761 details