Cep250 centrosomal protein 250 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep250provided by MGI
Official Full Name: centrosomal protein 250provided by MGI
Primary source: MGI:MGI:108084
See related: Ensembl:ENSMUSG00000038241 AllianceGenome:MGI:108084
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cep2; Inmp; B230210E21Rik
Summary: Predicted to enable protein domain specific binding activity. Involved in detection of light stimulus involved in visual perception. Located in microtubule organizing center; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and sensory organ. Used to study retinitis pigmentosa. Orthologous to human CEP250 (centrosomal protein 250). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 11.5), limb E14.5 (RPKM 7.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H1; 2 77.26 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (155798197..155840820)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (155956285..155998900)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice.
Title: Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice.
RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.
Title: RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.
Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
Title: Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
CEP2 attenuates myoblast differentiation but does not affect proliferation.
Title: CEP2 attenuates myoblast differentiation but does not affect proliferation.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cep250 (e-PCR), detects polymorphism
- UniSTS:532249

AW490617 (e-PCR)
- UniSTS:178750

Inmp (e-PCR), detects polymorphism
- UniSTS:143591

U33198 (e-PCR)
- UniSTS:163324

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in centriole-centriole cohesion	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to centrosome	ISO Inferred from Sequence Orthology more info
involved_in protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to centrosome	ISO Inferred from Sequence Orthology more info
involved_in protein localization to organelle	ISO Inferred from Sequence Orthology more info
involved_in regulation of centriole-centriole cohesion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with centriole	ISO Inferred from Sequence Orthology more info
located_in centriole	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in spindle pole centrosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: centrosome-associated protein CEP250

Names: 250 kDa centrosomal protein; C-Nap1; centrosomal Nek2-associated protein 1; intranuclear matrix protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001129999.1 → NP_001123471.1 centrosome-associated protein CEP250 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site at one of the coding exons, and includes an additional in-frame segment compared to variant 1, resulting in a longer isoform (2) compared to isoform 1.

Source sequence(s)

AK045557, AL833786

Consensus CDS

CCDS50773.1

UniProtKB/TrEMBL

B2RWX5, E9Q5A8

Related

ENSMUSP00000038255.8, ENSMUST00000039994.14

Conserved Domains (4) summary

COG1196
Location:474 → 1163

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1267 → 2069

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01763
Location:892 → 959

Herpes_UL6; Herpesvirus UL6 like

pfam15035
Location:39 → 214

Rootletin; Ciliary rootlet component, centrosome cohesion
NM_001130000.1 → NP_001123472.1 centrosome-associated protein CEP250 isoform 3

See identical proteins and their annotated locations for NP_001123472.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and includes an additional in-frame segment compared to variant 1, resulting in a longer isoform (3) compared to isoform 1.

Source sequence(s)

AK145562, AL833786

Consensus CDS

CCDS50772.1

UniProtKB/TrEMBL

A3KGJ7, B2RWX5

Related

ENSMUSP00000105248.3, ENSMUST00000109619.9

Conserved Domains (5) summary

COG1196
Location:475 → 1164

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1268 → 2070

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:228 → 507

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam15035
Location:39 → 214

Rootletin; Ciliary rootlet component, centrosome cohesion

pfam12128
Location:1874 → 2420

DUF3584; Protein of unknown function (DUF3584)
NM_008383.3 → NP_032409.3 centrosome-associated protein CEP250 isoform 1

See identical proteins and their annotated locations for NP_032409.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the shortest isoform (1). Variants 1 and 2 encode the same protein.

Source sequence(s)

AL833786

Consensus CDS

CCDS50771.1

UniProtKB/Swiss-Prot

E9QMB2, Q2I8G3, Q3UTR4, Q60952, Q6PFF6, Q8BLC6

UniProtKB/TrEMBL

B2RWX5

Related

ENSMUSP00000091988.5, ENSMUST00000094421.11

Conserved Domains (4) summary

COG1196
Location:455 → 1143

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1247 → 2049

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01763
Location:872 → 939

Herpes_UL6; Herpesvirus UL6 like

pfam15035
Location:39 → 214

Rootletin; Ciliary rootlet component, centrosome cohesion
NM_177217.3 → NP_796191.2 centrosome-associated protein CEP250 isoform 1

See identical proteins and their annotated locations for NP_796191.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AL833786

Consensus CDS

CCDS50771.1

UniProtKB/Swiss-Prot

E9QMB2, Q2I8G3, Q3UTR4, Q60952, Q6PFF6, Q8BLC6

UniProtKB/TrEMBL

B2RWX5

Conserved Domains (4) summary

COG1196
Location:455 → 1143

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1247 → 2049

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam01763
Location:872 → 939

Herpes_UL6; Herpesvirus UL6 like

pfam15035
Location:39 → 214

Rootletin; Ciliary rootlet component, centrosome cohesion

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

155798197..155840820

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498797.5 → XP_006498860.1 centrosome-associated protein CEP250 isoform X1

See identical proteins and their annotated locations for XP_006498860.1

UniProtKB/TrEMBL

A3KGJ7, B2RWX5

Conserved Domains (5) summary

COG1196
Location:475 → 1164

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1268 → 2070

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:228 → 507

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam15035
Location:39 → 214

Rootletin; Ciliary rootlet component, centrosome cohesion

pfam12128
Location:1874 → 2420

DUF3584; Protein of unknown function (DUF3584)
XM_006498796.1 → XP_006498859.1 centrosome-associated protein CEP250 isoform X1

See identical proteins and their annotated locations for XP_006498859.1

UniProtKB/TrEMBL

A3KGJ7, B2RWX5

Conserved Domains (5) summary

COG1196
Location:475 → 1164

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1268 → 2070

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:228 → 507

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam15035
Location:39 → 214

Rootletin; Ciliary rootlet component, centrosome cohesion

pfam12128
Location:1874 → 2420

DUF3584; Protein of unknown function (DUF3584)
XM_006498798.1 → XP_006498861.1 centrosome-associated protein CEP250 isoform X2

UniProtKB/TrEMBL

B2RWX5

Conserved Domains (5) summary

COG1196
Location:475 → 1164

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1268 → 2070

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:228 → 507

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam15035
Location:39 → 214

Rootletin; Ciliary rootlet component, centrosome cohesion

pfam17380
Location:1942 → 2265

DUF5401; Family of unknown function (DUF5401)
XM_030247663.2 → XP_030103523.1 centrosome-associated protein CEP250 isoform X3

UniProtKB/TrEMBL

B2RWX5

Conserved Domains (4) summary

COG1196
Location:283 → 972

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1076 → 1878

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:36 → 315

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12128
Location:1682 → 2228

DUF3584; Protein of unknown function (DUF3584)
XM_030247667.2 → XP_030103527.1 centrosome-associated protein CEP250 isoform X3

UniProtKB/TrEMBL

B2RWX5

Conserved Domains (4) summary

COG1196
Location:283 → 972

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1076 → 1878

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:36 → 315

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12128
Location:1682 → 2228

DUF3584; Protein of unknown function (DUF3584)
XM_030247666.2 → XP_030103526.1 centrosome-associated protein CEP250 isoform X3

UniProtKB/TrEMBL

B2RWX5

Conserved Domains (4) summary

COG1196
Location:283 → 972

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:1076 → 1878

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:36 → 315

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12128
Location:1682 → 2228

DUF3584; Protein of unknown function (DUF3584)
XM_036158613.1 → XP_036014506.1 centrosome-associated protein CEP250 isoform X5

Conserved Domains (2) summary

PRK11281
Location:1006 → 1302

PRK11281; mechanosensitive channel MscK

TIGR02168
Location:349 → 1151

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_036158623.1 → XP_036014516.1 centrosome-associated protein CEP250 isoform X5

Conserved Domains (2) summary

PRK11281
Location:1006 → 1302

PRK11281; mechanosensitive channel MscK

TIGR02168
Location:349 → 1151

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_006498802.4 → XP_006498865.1 centrosome-associated protein CEP250 isoform X4

Related

ENSMUST00000148191.2

Conserved Domains (2) summary

TIGR02168
Location:446 → 1248

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam12128
Location:1052 → 1598

DUF3584; Protein of unknown function (DUF3584)