Ccdc78 MGI Mouse Gene Detail - MGI:2685784 - coiled-coil domain containing 78

Symbol

Ccdc78
Name

coiled-coil domain containing 78
Synonyms

LOC381077, LOC381146

Feature Type

protein coding gene
IDs

MGI:2685784
NCBI Gene: 381077
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr17:26005554-26009487 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.89 cM
Mapping Data

2 experiments

SNPs within 2kb

145 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685784	protein coding gene	Chr17:26005554-26009487 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023367	protein coding gene	Chr17:24882674-24886570 (+)
A/J	MGP_AJ_G0023326	protein coding gene	Chr17:24159394-24163312 (+)
AKR/J	MGP_AKRJ_G0023292	protein coding gene	Chr17:24263447-24269148 (+)
BALB/cJ	MGP_BALBcJ_G0023331	protein coding gene	Chr17:24385029-24389350 (+)
C3H/HeJ	MGP_C3HHeJ_G0023091	protein coding gene	Chr17:24646968-24650859 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023773	protein coding gene	Chr17:25935588-25939591 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021249	protein coding gene	Chr17:21620573-21624538 (+)
CAST/EiJ	MGP_CASTEiJ_G0022593	protein coding gene	Chr17:24531082-24537993 (+)
CBA/J	MGP_CBAJ_G0023066	protein coding gene	Chr17:26842933-26849795 (+)
DBA/2J	MGP_DBA2J_G0023196	protein coding gene	Chr17:23759979-23763905 (+)
FVB/NJ	MGP_FVBNJ_G0023166	protein coding gene	Chr17:23500633-23505200 (+)
LP/J	MGP_LPJ_G0023273	protein coding gene	Chr17:25180404-25184315 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023185	protein coding gene	Chr17:26458670-26462579 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023813	protein coding gene	Chr17:24584307-24588253 (+)
PWK/PhJ	MGP_PWKPhJ_G0022342	protein coding gene	Chr17:22522962-22526814 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022160	protein coding gene	Chr17:22656322-22660657 (+)
WSB/EiJ	MGP_WSBEiJ_G0022656	protein coding gene	Chr17:24635241-24639170 (+)

Human Ortholog

CCDC78, coiled-coil domain containing 78

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CCDC78, coiled-coil domain containing 78
Synonyms

C16orf25, CNM4, hsCCDC78, JFP10
Links

HGNC:14153

NCBI Gene ID: 124093

neXtProt AC: NX_A2IDD5

UniProt: A2IDD5
Chr Location

16p13.3

MGI Vertebrate Homology

Ccdc78 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CCDC78
Gene Tree

Ccdc78

Diseases

1 with human CCDC78 associations

				Human Disease	Mouse Models
				centronuclear myopathy 4 IDs centronuclear myopathy 4 DOID:0111224 OMIM:614807

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

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
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

4
Endonuclease-mediated

1
Radiation induced

2
Targeted

1
Genomic Mutations

2 involving Ccdc78
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

17
GO References

5

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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

706
cDNA Data

7

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN ccdc78

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All Sequences

31
RefSeq

5
UniProt

1
CCDS

CCDS50035.1

Ensembl

ENSMUSG00000071202 (Evidence)
NCBI Gene

381077

			Length	Strain/Species	Flank
genomic	381077	NCBI Gene Model \| MGI Sequence Detail	3934	C57BL/6J	± kb
transcript	NM_001165929	RefSeq \| MGI Sequence Detail	1651	C57BL/6
polypeptide	D3Z5T1	UniProt \| EBI \| MGI Sequence Detail	437	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000030377 coiled-coil domain-containing protein 78

(term hierarchy)
InterPro Domains

IPR039873 Coiled-coil domain-containing protein 78

IPR029329 Domain of unknown function DUF4472
GlyGen

D3Z5T1 1 site, 1 O-linked glycan (1 site)

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All nucleic 7

cDNA 7

Microarray probesets 1

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MGI:2685796

Summaries

All 29

Gene Ontology 5

Phenotypes 7
Earliest

J:86784 Bergstrom DE, et al., Overlapping deletions spanning the proximal two-thirds of the mouse t complex. Mamm Genome. 2003 Dec;14(12):817-29
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ccdc78:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143178	Chr17:26005540-26005558 (+)	-5 bp
Tssr143179	Chr17:26005559-26005587 (+)	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)
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