Cep152 MGI Mouse Gene Detail - MGI:2139083

Symbol

Cep152
Name

centrosomal protein 152

Feature Type

protein coding gene
IDs

MGI:2139083
NCBI Gene: 99100
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr2:125405008-125467033 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 61.76 cM
Mapping Data

1 experiment

SNPs within 2kb

1809 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2139083	protein coding gene	Chr2:125391784-125467081 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026430	protein coding gene	Chr2:128755004-128826042 (-)
A/J	MGP_AJ_G0026393	protein coding gene	Chr2:123515213-123580436 (-)
AKR/J	MGP_AKRJ_G0026369	protein coding gene	Chr2:127045462-127109093 (-)
BALB/cJ	MGP_BALBcJ_G0026405	protein coding gene	Chr2:123805402-123867330 (-)
C3H/HeJ	MGP_C3HHeJ_G0026149	protein coding gene	Chr2:127532038-127597156 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026851	protein coding gene	Chr2:132859184-132923496 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024228	protein coding gene	Chr2:118296950-118357195 (-)
CAST/EiJ	MGP_CASTEiJ_G0025610	protein coding gene	Chr2:127776886-127843807 (-)
CBA/J	MGP_CBAJ_G0026129	protein coding gene	Chr2:137679729-137751392 (-)
DBA/2J	MGP_DBA2J_G0026263	protein coding gene	Chr2:122929837-122991631 (-)
FVB/NJ	MGP_FVBNJ_G0026227	protein coding gene	Chr2:121615170-121682104 (-)
LP/J	MGP_LPJ_G0026368	protein coding gene	Chr2:128986585-129051817 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026247	protein coding gene	Chr2:141805222-141871729 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026906	protein coding gene	Chr2:127077600-127142245 (-)
PWK/PhJ	MGP_PWKPhJ_G0025346	protein coding gene	Chr2:122455496-122534244 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025148	protein coding gene	Chr2:126149055-126219412 (-)
WSB/EiJ	MGP_WSBEiJ_G0025684	protein coding gene	Chr2:127982059-128047751 (-)

Human Ortholog

CEP152, centrosomal protein 152

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CEP152, centrosomal protein 152
Synonyms

MCPH4, MCPH9, SCKL5
Links

HGNC:29298

NCBI Gene ID: 22995

neXtProt AC: NX_O94986

UniProt: O94986
Chr Location

15q21.1; chr15:48712928-48811146 (-) GRCh38

MGI Vertebrate Homology

Cep152 stringent orthology
1 human;1 mouse;1 zebrafish
HCOP

vertebrate homology predictions: CEP152
Gene Tree

Cep152

Diseases

2 with human CEP152 associations

				Human Disease	Mouse Models
				primary autosomal recessive microcephaly 9 IDs primary autosomal recessive microcephaly 9 DOID:0070292 OMIM:614852
				Seckel syndrome 5 IDs Seckel syndrome 5 DOID:0070012 OMIM:613823

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

15
Chemically induced (other)

1
Gene trapped

10
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Cep152
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

70 strains or lines available

Embryos homozygous for a null allele exhibit reduced numbers of centrosomes and cilia, increased apoptosis, and midgestation lethality.

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All GO Annotations

26
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

812
Tissues

39
cDNA Data

9
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cep152

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All Sequences

55
RefSeq

23
UniProt

1
CCDS

CCDS38229.1

Ensembl

ENSMUSG00000068394 (Evidence)
NCBI Gene

99100

			Length	Strain/Species	Flank
genomic	ENSMUSG00000068394	Ensembl Gene Model \| MGI Sequence Detail	62026	C57BL/6J	± kb
transcript	ENSMUST00000089776	Ensembl \| MGI Sequence Detail	5768	Not Applicable
polypeptide	ENSMUSP00000087208	Ensembl \| MGI Sequence Detail	1736	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000005342 centrosomal protein of 152 kDa

(term hierarchy)
InterPro Domains

IPR051235 Centrosomal Protein 152/SHC-Transforming Protein

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All nucleic 10

cDNA 9

Primer pair 1

Microarray probesets 4

Summaries

All 44

Developmental Gene Expression 5

Gene Ontology 10

Phenotypes 14
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:324299 Hamada N, et al., Expression Analyses of Cep152, a Responsible Gene Product for Autosomal Recessive Primary Microcephaly, during Mouse Brain Development. Dev Neurosci. 2022;44(3):162-170

TSS for Cep152:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr26007	Chr2:125466985-125467043 (-)	19 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24