CEP89 - centrosomal protein 89 Gene

Homo sapiens

Also known as CEP123; CCDC123

Gene ID: 84902 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02528	CEP89 Human Pre-designed siRNA Set A		/	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

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