CEP250 - centrosomal protein 250 Gene

Homo sapiens

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

Gene ID: 11190 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02510	CEP250 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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