Cep57 MGI Mouse Gene Detail - MGI:1915551

Symbol

Cep57
Name

centrosomal protein 57
Synonyms

3110002L15Rik, 4921510P06Rik, 4931428M20Rik, mKIAA0092, Tsp57

Feature Type

protein coding gene
IDs

MGI:1915551
NCBI Gene: 74360
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr9:13719088-13738403 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 3.49 cM, cytoband A2
Mapping Data

3 experiments

SNPs within 2kb

456 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915551	protein coding gene	Chr9:13717979-13738698 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0034345	protein coding gene	Chr9:10726856-10746588 (-)
A/J	MGP_AJ_G0034323	protein coding gene	Chr9:10702521-10721687 (-)
AKR/J	MGP_AKRJ_G0034251	protein coding gene	Chr9:10678436-10698005 (-)
BALB/cJ	MGP_BALBcJ_G0034317	protein coding gene	Chr9:10451547-10470808 (-)
C3H/HeJ	MGP_C3HHeJ_G0034028	protein coding gene	Chr9:10966829-10986109 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0034839	protein coding gene	Chr9:11076134-11097742 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031777	protein coding gene	Chr9:10042613-10062131 (-)
CAST/EiJ	MGP_CASTEiJ_G0033355	protein coding gene	Chr9:10801257-10822008 (-)
CBA/J	MGP_CBAJ_G0034001	protein coding gene	Chr9:11586156-11605529 (-)
DBA/2J	MGP_DBA2J_G0034158	protein coding gene	Chr9:10570244-10589505 (-)
FVB/NJ	MGP_FVBNJ_G0034103	protein coding gene	Chr9:10189592-10209810 (-)
LP/J	MGP_LPJ_G0034244	protein coding gene	Chr9:10793228-10812489 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034147	protein coding gene	Chr9:12672089-12692199 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034858	protein coding gene	Chr9:10715903-10735167 (-)
PWK/PhJ	MGP_PWKPhJ_G0033061	protein coding gene	Chr9:10636598-10656788 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0032897	protein coding gene	Chr9:10782335-10801790 (-)
WSB/EiJ	MGP_WSBEiJ_G0033471	protein coding gene	Chr9:10532828-10554405 (-)

Human Ortholog

CEP57, centrosomal protein 57

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CEP57, centrosomal protein 57
Synonyms

MVA2, PIG8, TSP57
Links

HGNC:30794

NCBI Gene ID: 9702

neXtProt AC: NX_Q86XR8

UniProt: Q86XR8
Chr Location

11q21; chr11:95789965-95832693 (+) GRCh38

MGI Vertebrate Homology

Cep57 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CEP57
Gene Tree

Cep57

Diseases

1 with human CEP57 associations

				Human Disease	Mouse Models
				mosaic variegated aneuploidy syndrome 2 IDs mosaic variegated aneuploidy syndrome 2 DOID:0080142 OMIM:614114

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

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Phenotype Summary

16 phenotypes from 2 alleles in 3 genetic backgrounds
7 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

33
Endonuclease-mediated

4
Gene trapped

27
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit complete lethality by E15.5. Mice heterozygous for the allele exhibit increased tumor incidence with aneuploidy. Mice homozygous for a hypomorphic allele exhibit abnormal bone ossification, short curly tails, and neonatal lethality.

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All GO Annotations

25
GO References

7

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

737
Tissues

2
cDNA Data

13
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cep57

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All Sequences

86
RefSeq

12
UniProt

8
CCDS

CCDS52724.1, CCDS80955.1

Ensembl

ENSMUSG00000031922 (Evidence)
NCBI Gene

74360

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031922	Ensembl Gene Model \| MGI Sequence Detail	19316	C57BL/6J	± kb
transcript	ENSMUST00000034398	Ensembl \| MGI Sequence Detail	2523	Not Applicable
polypeptide	ENSMUSP00000034398	Ensembl \| MGI Sequence Detail	500	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000005352 centrosomal protein of 57 kDa

(term hierarchy)
InterPro Domains

IPR051756 Centrosomal microtubule-associated protein

IPR025913 Cep57 centrosome localisation domain

IPR024957 Cep57 centrosome microtubule-binding domain

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All nucleic 13

cDNA 13

Microarray probesets 9

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MGI:1914656, MGI:1921610, MGI:2143073

Summaries

All 38

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:264300 Aziz K, et al., Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. J Clin Invest. 2018 Aug 1;128(8):3517-3534

TSS for Cep57:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr2781	Chr9:13738668-13738684 (-)	-273 bp
Tssr88145	Chr9:13738325-13738425 (-)	28 bp
Tssr88144	Chr9:13738304-13738324 (-)	89 bp
Tssr88143	Chr9:13738277-13738296 (-)	116 bp
Tssr88142	Chr9:13738242-13738268 (-)	148 bp
Tssr88141	Chr9:13738207-13738241 (-)	179 bp
Tssr88140	Chr9:13737838-13737850 (-)	559 bp
Tssr88139	Chr9:13732984-13732989 (-)	5,416 bp
Tssr88138	Chr9:13729966-13729985 (-)	8,427 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)
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