CEP250 - centrosomal protein 250 Gene

Also Known as CEP2; CNAP1; C-NAP1; CRDHL2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11190

About CEP250

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,455,165-35,519,280 (from NCBI)

This gene has 14 transcripts (splice variants), 327 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 6.5), spleen (RPKM 5.2) and 24 other tissues.

Summary

This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of Mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

CEP250 Products (2)

mRNA	Protein	Name
NM_001318219.1	NP_001305148.1	centrosome-associated protein CEP250 isoform 2
NM_007186.6	NP_009117.2	centrosome-associated protein CEP250 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9647649	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	24554434	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in centriole-centriole cohesion	IMP IMP: Inferred from mutant phenotype	11076968	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	28005958	GOA
involved in mitotic cell cycle	IDA IDA: Inferred from direct assay	12140259	GOA
involved in non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	23789104	GOA
involved in positive regulation of protein localization to centrosome	IMP IMP: Inferred from mutant phenotype	27623382	GOA
involved in protein localization	IMP IMP: Inferred from mutant phenotype	18851962	GOA
involved in protein localization to centrosome	IMP IMP: Inferred from mutant phenotype	30404835	GOA
involved in protein localization to organelle	IMP IMP: Inferred from mutant phenotype	24554434	GOA
involved in regulation of centriole-centriole cohesion	IDA IDA: Inferred from direct assay	9647649	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with centriole	IDA IDA: Inferred from direct assay	11076968	GOA
located in centriole	IDA IDA: Inferred from direct assay	18851962	GOA
located in centrosome	IDA IDA: Inferred from direct assay	9647649	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	10880350	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

CEP250 Protein Structure

Rootletin

0
400
800
1200
1600
2000
2442 a.a.

Protein Preferred Names	Protein Names
centrosome-associated protein CEP250	250 kDa centrosomal protein

CEP250 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CEP250	Q9BV73	SIK2	Homo sapiens	Q9H0K1	Pull Down	20708153
Intra	CEP250	Q9BV73	SIK2	Homo sapiens	Q9H0K1	Anti Bait CoIP	20708153
Intra	CEP250	Q9BV73	SIK2	Homo sapiens	Q9H0K1	Confocal	20708153
Cross	CEP250	Q9BV73	Axin2	Mus musculus	O88566	Anti Tag CoIP	20300119
Cross	CEP250	Q9BV73	Axin2	Mus musculus	O88566	IF	20300119

Cross: Cross-species interaction Intra: Intraspecies interaction

CEP250 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810278	C-Nap1 Antibody (YA9622)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Cone-Rod Dystrophy And Hearing Loss 2	CRDHL2 Dystrophy, Cone-Rod, And Hearing Loss, Type 2
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Spondylometaphyseal Dysplasia, Axial	Axial Spondylometaphyseal Dysplasia SMDAX Axial Smd Smd Axial Smd, Axial Spondylometaphyseal Dysplasia Axial Type Dysplasia, Spondylometaphyseal, Axial
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Pharc Syndrome PHARC Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Peripheral Neuropathy, Fiskerstrand Type Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Balantidiasis	Balantidiosis Human Balantidiasis B Coli Infection Balantidium Coli Infection Large-Intestinal Infection With Balantidium Coli Ciliary Dysentery
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
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 Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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

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-RS02510	CEP250 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CEP250	VGNC	VGNC:39124
Macaca mulatta	CEP250	VGNC	VGNC:71010
Felis catus	CEP250	VGNC	VGNC:80062
Mus musculus	CEP250	MGD	MGI:108084
Rattus norvegicus	CEP250	RGD	RGD:1562262
Bos taurus	CEP250	VGNC	VGNC:27200
Others	CEP250	NCBI