Cep104 MGI Mouse Gene Detail - MGI:2687282

Symbol

Cep104
Name

centrosomal protein 104
Synonyms

BC046331, MGC:54921, mKIAA0562

Feature Type

protein coding gene
IDs

MGI:2687282
NCBI Gene: 230967
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr4:154059651-154093189 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 83.78 cM
Mapping Data

1 experiment

SNPs within 2kb

1150 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2687282	protein coding gene	Chr4:154059649-154093189 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029187	protein coding gene	Chr4:158207243-158241227 (+)
A/J	MGP_AJ_G0029152	protein coding gene	Chr4:151579427-151611469 (+)
AKR/J	MGP_AKRJ_G0029100	protein coding gene	Chr4:155710006-155743337 (+)
BALB/cJ	MGP_BALBcJ_G0029168	protein coding gene	Chr4:152044831-152078968 (+)
C3H/HeJ	MGP_C3HHeJ_G0028889	protein coding gene	Chr4:156245224-156278434 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029617	protein coding gene	Chr4:163868706-163907273 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026863	protein coding gene	Chr4:143880080-143912869 (+)
CAST/EiJ	MGP_CASTEiJ_G0028302	protein coding gene	Chr4:153641649-153677296 (+)
CBA/J	MGP_CBAJ_G0028851	protein coding gene	Chr4:168796747-168832770 (+)
DBA/2J	MGP_DBA2J_G0029000	protein coding gene	Chr4:151603736-151637280 (+)
FVB/NJ	MGP_FVBNJ_G0028964	protein coding gene	Chr4:150804327-150837087 (+)
LP/J	MGP_LPJ_G0029090	protein coding gene	Chr4:158123813-158157309 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028991	protein coding gene	Chr4:171714860-171751501 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029649	protein coding gene	Chr4:156276577-156312327 (+)
PWK/PhJ	MGP_PWKPhJ_G0028022	protein coding gene	Chr4:147679539-147713131 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027856	protein coding gene	Chr4:150563311-150599329 (+)
WSB/EiJ	MGP_WSBEiJ_G0028382	protein coding gene	Chr4:156440660-156476879 (+)

Human Ortholog

CEP104, centrosomal protein 104

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CEP104, centrosomal protein 104
Synonyms

CFAP256, GlyBP, JBTS25, KIAA0562, MRT77, ROC22
Links

HGNC:24866

NCBI Gene ID: 9731

neXtProt AC: NX_O60308

UniProt: O60308
Chr Location

1p36.32; chr1:3812086-3857396 (-) GRCh38

MGI Vertebrate Homology

Cep104 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CEP104
Gene Tree

Cep104

Diseases

2 with human CEP104 associations

				Human Disease	Mouse Models
				autosomal recessive intellectual developmental disorder 77 IDs autosomal recessive intellectual developmental disorder 77 DOID:0081236 OMIM:619988
				Joubert syndrome 25 IDs Joubert syndrome 25 DOID:0110994 OMIM:616781

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
13 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

16
Endonuclease-mediated

4
Gene trapped

6
Targeted

6
Genomic Mutations

3 involving Cep104
Incidental Mutations

APF
Find Mice (IMSR)

46 strains or lines available

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All GO Annotations

11
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

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

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

708
Tissues

2
cDNA Data

70
Literature Summary

1

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cep104

ZFIN cep104

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All Sequences

55
RefSeq

6
UniProt

5
CCDS

CCDS19005.1

Ensembl

ENSMUSG00000039523 (Evidence)
NCBI Gene

230967

			Length	Strain/Species	Flank
genomic	ENSMUSG00000039523	Ensembl Gene Model \| MGI Sequence Detail	33539	C57BL/6J	± kb
transcript	ENSMUST00000047497	Ensembl \| MGI Sequence Detail	5151	Not Applicable
polypeptide	ENSMUSP00000040762	Ensembl \| MGI Sequence Detail	926	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000031020 centrosomal protein of 104 kDa

(term hierarchy)
InterPro Domains

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR052607 Centrosomal protein 104 kDa-like

IPR048739 Centrosomal protein CEP104, N-terminal domain

IPR048738 Centrosomal protein CEP104, Zn finger domain

IPR008979 Galactose-binding-like domain superfamily

IPR034085 TOG domain

IPR013083 Zinc finger, RING/FYVE/PHD-type

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All nucleic 71

cDNA 71

Microarray probesets 3

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MGI:2140191

Summaries

All 43

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 13
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Cep104:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr40568	Chr4:154059572-154059593 (+)	-68 bp
Tssr40569	Chr4:154059596-154059610 (+)	-48 bp
Tssr40570	Chr4:154059620-154059704 (+)	11 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 11/12/2024 MGI 6.24