Cep120 MGI Mouse Gene Detail - MGI:2147298

Symbol

Cep120
Name

centrosomal protein 120
Synonyms

Ccdc100

Feature Type

protein coding gene
IDs

MGI:2147298
NCBI Gene: 225523
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr18:53814795-53877680 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 29.07 cM
Mapping Data

1 experiment

SNPs within 2kb

1954 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2147298	protein coding gene	Chr18:53814795-53877825 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024437	protein coding gene	Chr18:52874584-52941764 (-)
A/J	MGP_AJ_G0024403	protein coding gene	Chr18:50827937-50891040 (-)
AKR/J	MGP_AKRJ_G0024373	protein coding gene	Chr18:52239058-52303624 (-)
BALB/cJ	MGP_BALBcJ_G0024403	protein coding gene	Chr18:51004524-51069285 (-)
C3H/HeJ	MGP_C3HHeJ_G0024170	protein coding gene	Chr18:52386050-52449046 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024849	protein coding gene	Chr18:54635872-54698420 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022281	protein coding gene	Chr18:50587981-50649526 (-)
CAST/EiJ	MGP_CASTEiJ_G0023644	protein coding gene	Chr18:52372845-52438131 (-)
CBA/J	MGP_CBAJ_G0024140	protein coding gene	Chr18:56252405-56319635 (-)
DBA/2J	MGP_DBA2J_G0024270	protein coding gene	Chr18:50530166-50593438 (-)
FVB/NJ	MGP_FVBNJ_G0024237	protein coding gene	Chr18:49947629-50010113 (-)
LP/J	MGP_LPJ_G0024355	protein coding gene	Chr18:52883064-52948548 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024267	protein coding gene	Chr18:58016056-58081503 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024896	protein coding gene	Chr18:52282360-52347046 (-)
PWK/PhJ	MGP_PWKPhJ_G0023388	protein coding gene	Chr18:50532587-50608865 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023194	protein coding gene	Chr18:52446948-52511489 (-)
WSB/EiJ	MGP_WSBEiJ_G0023707	protein coding gene	Chr18:52207159-52270772 (-)

Human Ortholog

CEP120, centrosomal protein 120

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CEP120, centrosomal protein 120
Synonyms

CCDC100, JBTS31, SRTD13
Links

HGNC:26690

NCBI Gene ID: 153241

neXtProt AC: NX_Q8N960

UniProt: Q8N960
Chr Location

5q23.2; chr5:123344890-123423842 (-) GRCh38

MGI Vertebrate Homology

Cep120 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: CEP120
Gene Tree

Cep120

Diseases

2 with human CEP120 associations

				Human Disease	Mouse Models
				Joubert syndrome 31 IDs Joubert syndrome 31 DOID:0080277 OMIM:617761
				short-rib thoracic dysplasia 13 with or without polydactyly IDs short-rib thoracic dysplasia 13 with or without polydactyly DOID:0110093 ICD10CM:Q77.2 OMIM:616300

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

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Phenotype Summary

19 phenotypes from 2 alleles in 2 genetic backgrounds
7 images
11 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

8
Endonuclease-mediated

1
Gene trapped

1
Spontaneous

1
Targeted

5
Genomic Mutations

1 involving Cep120
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

50 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles.

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All GO Annotations

31
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

820
Tissues

41
cDNA Data

125
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cep120

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All Sequences

48
RefSeq

6
UniProt

1
CCDS

CCDS37822.1

Ensembl

ENSMUSG00000048799 (Evidence)
NCBI Gene

225523

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048799	Ensembl Gene Model \| MGI Sequence Detail	62886	C57BL/6J	± kb
transcript	ENSMUST00000049811	Ensembl \| MGI Sequence Detail	4554	Not Applicable
polypeptide	ENSMUSP00000062433	Ensembl \| MGI Sequence Detail	988	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000005340 centrosomal protein of 120 kDa

(term hierarchy)
PDB

6EWP
InterPro Domains

IPR000008 C2 domain

IPR035892 C2 domain superfamily

IPR039893 Centrosomal protein of 120kDa-like

IPR022136 Domain of unknown function DUF3668

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All nucleic 125

cDNA 125

Microarray probesets 3

Summaries

All 39

Developmental Gene Expression 7

Gene Ontology 7

Phenotypes 11
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:345633 Langner E, et al., Cep120 is essential for kidney stromal progenitor cell growth and differentiation. EMBO Rep. 2024 Jan;25(1):428-454

TSS for Cep120:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr153336	Chr18:53877800-53877815 (-)	-128 bp
Tssr153335	Chr18:53877742-53877764 (-)	-73 bp
Tssr153334	Chr18:53877581-53877701 (-)	39 bp
Tssr5319	Chr18:53877552-53877564 (-)	122 bp
Tssr153333	Chr18:53856248-53856269 (-)	21,421 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 12/10/2024 MGI 6.24