CEP83 - centrosomal protein 83 Gene

Also Known as CCDC41; NPHP18; NY-REN-58

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51134

About CEP83

Cytogenetic location: 12q22 Genomic coordinates (GRCh38): 12:94,265,662-94,460,454 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.2), appendix (RPKM 2.5) and 25 other tissues.

Summary

The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]

CEP83 Products (14)

mRNA	Protein	Name
NM_001042399.2	NP_001035858.1	centrosomal protein of 83 kDa isoform a
NM_001346457.2	NP_001333386.1	centrosomal protein of 83 kDa isoform a
NM_001346458.2	NP_001333387.1	centrosomal protein of 83 kDa isoform b
NM_001346459.2	NP_001333388.1	centrosomal protein of 83 kDa isoform b
NM_001346460.2	NP_001333389.1	centrosomal protein of 83 kDa isoform c
NM_001346461.2	NP_001333390.1	centrosomal protein of 83 kDa isoform c
NM_001346462.2	NP_001333391.1	centrosomal protein of 83 kDa isoform d
NM_001368037.1	NP_001354966.1	centrosomal protein of 83 kDa isoform a
NM_001368038.1	NP_001354967.1	centrosomal protein of 83 kDa isoform a
NM_001368039.1	NP_001354968.1	centrosomal protein of 83 kDa isoform b
NM_001368040.1	NP_001354969.1	centrosomal protein of 83 kDa isoform b
NM_001368041.1	NP_001354970.1	centrosomal protein of 83 kDa isoform e
NM_001368042.1	NP_001354971.1	centrosomal protein of 83 kDa isoform f
NM_016122.3	NP_057206.2	centrosomal protein of 83 kDa isoform a

Protein Preferred Names	Protein Names
centrosomal protein of 83 kDa	NY-REN-58 antigen

Related Diseases

Diseases	Alias
Nephronophthisis 18	NPHP18 Nephronophthisis, Type 18
Infantile Nephronophthisis	Autosomal Recessive Infantile Nphp Autosomal Recessive Infantile Nephronophthisis Nephronophthisis 2
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia Type 11 SCA11 Spinocerebellar Ataxia-11 Ataxia, Spinocerebellar, Type 11
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
Hydrolethalus Syndrome 1	Hydrolethalus Syndrome HLS1 Salonen-Herva-Norio Syndrome Hls Hydrolethalus Hydrolethalus Syndrome, Type 1
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Nephronophthisis 16	NPHP16 Nephronophthisis, Type 16
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
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
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
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
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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-RS02525	CEP83 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CEP83	MGD	MGI:1924298
Rattus norvegicus	CEP83	RGD	RGD:1359593
Bos taurus	CEP83	VGNC	VGNC:27215
Macaca mulatta	CEP83	VGNC	VGNC:70992
Felis catus	CEP83	VGNC	VGNC:60785
Canis familiaris	CEP83	VGNC	VGNC:39139
Others	CEP83	NCBI