CEP89 - centrosomal protein 89 Gene

Also Known as CEP123; CCDC123

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84902

About CEP89

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,875,925-32,971,958 (from NCBI)

This gene has 9 transcripts (splice variants), 128 orthologues and is associated with 73 phenotypes. Ubiquitous expression in ovary (RPKM 2.9), endometrium (RPKM 2.6) and 25 other tissues.

Summary

Involved in non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including cytosol; microtubule cytoskeleton; and non-motile cilium. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Apr 2022]

CEP89 Products (1)

mRNA Protein Name
NM_032816.5 NP_116205.3 centrosomal protein of 89 kDa

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23789104 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within cilium assembly IMP
IMP: Inferred from mutant phenotype
23348840 GOA
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
23348840 GOA
involved in non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
23789104 GOA
Cellular Component GO Annotation Evidence References Source
located in centriole IDA
IDA: Inferred from direct assay
23348840 GOA
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
part of ciliary transition fiber IDA
IDA: Inferred from direct assay
23348840 GOA
located in non-motile cilium IDA
IDA: Inferred from direct assay
23789104 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
21399614 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

centrosomal protein of 89 kDa

  • centrosomal protein 123

Related Diseases

Diseases Alias
Nephronophthisis 18

  • NPHP18

  • Nephronophthisis, Type 18
Cystinuria

  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease
Orofaciodigital Syndrome I

  • OFD1

  • Orofaciodigital Syndrome 1

  • Oral-Facial-Digital Syndrome, Type I

  • Oral-Facial-Digital Syndrome 1

  • Ofds I

  • Papillon-Leage And Psaume Syndrome

  • Papillon-Leage-Psaume Syndrome

  • Oral-Facial-Digital Syndrome Type 1

  • Orofaciodigital Syndrome Type 1

  • Orofaciodigital Syndromes

  • Orofaciodigital Syndrome Type I

  • Oral-Facial-Digital Syndrome Type I

  • Ofd Syndrome 1

  • Ofds 1

  • Oral Facial Digital Syndrome 1

  • Oral Facial Digital Syndrome Type 1

  • Papillon-League-Psaume Syndrome

  • Ofdi

  • Ofdsi

  • Orofaciodigital Syndrome, Type I
Spinocerebellar Ataxia 11

  • Spinocerebellar Ataxia Type 11

  • SCA11

  • Spinocerebellar Ataxia-11

  • Ataxia, Spinocerebellar, Type 11
Hydrolethalus Syndrome 1

  • Hydrolethalus Syndrome

  • HLS1

  • Salonen-Herva-Norio Syndrome

  • Hls

  • Hydrolethalus

  • Hydrolethalus Syndrome, Type 1
Seckel Syndrome 7

  • SCKL7

  • Microcephalic Primordial Dwarfism, Dauber Type

  • Seckel Syndrome, Type 7
Orofaciodigital Syndrome Ix

  • OFD9

  • Orofaciodigital Syndrome With Retinal Abnormalities

  • Oral-Facial-Digital Syndrome With Retinal Abnormalities

  • Orofaciodigital Syndrome 9

  • Oral-Facial-Digital Syndrome Type 9

  • Ofds Ix

  • Oral-Facial-Digital Syndrome, Type Ix

  • Ofd Syndrome 9

  • Ofds 9

  • Oral Facial Digital Syndrome 9

  • Oral Facial Digital Syndrome Type 9

  • Orofaciodigital Syndrome Type 9

  • Orofaciodigital Syndrome, Type Ix
Bardet-Biedl Syndrome 4

  • BBS4

  • Bardet-Biedl Syndrome, Type 4
Mosaic Variegated Aneuploidy Syndrome

  • Warburton-Anyane-Yeboa Syndrome

  • Mva Syndrome

  • Mosaic Variegated Aneuplody Microcephaly Syndrome

  • Warburton Anyane Yeboa Syndrome
Nephronophthisis

  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary
Meckel Syndrome, Type 1

  • Meckel-Gruber Syndrome

  • Meckel Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1
Joubert Syndrome 1

  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Primary Ciliary Dyskinesia

  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02528 CEP89 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CEP89 RGD RGD:1311730
Macaca mulatta CEP89 VGNC VGNC:71105
Canis familiaris CEP89 VGNC VGNC:39142
Felis catus CEP89 VGNC VGNC:60788
Bos taurus CEP89 VGNC VGNC:27218
Mus musculus CEP89 MGD MGI:1919390