Ccdc93 MGI Mouse Gene Detail - MGI:1918079 - coiled-coil domain containing 93

Symbol

Ccdc93
Name

coiled-coil domain containing 93
Synonyms

4633402D15Rik, 9230102M16Rik

Feature Type

protein coding gene
IDs

MGI:1918079
NCBI Gene: 70829
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr1:121358796-121434189 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 52.97 cM, cytoband E2
Mapping Data

3 experiments

SNPs within 2kb

2634 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918079	protein coding gene	Chr1:121358778-121434189 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016410	protein coding gene	Chr1:124260420-124343156 (+)
A/J	MGP_AJ_G0016393	protein coding gene	Chr1:119799305-119876499 (+)
AKR/J	MGP_AKRJ_G0016358	protein coding gene	Chr1:123308127-123388520 (+)
BALB/cJ	MGP_BALBcJ_G0016353	protein coding gene	Chr1:120082974-120157078 (+)
C3H/HeJ	MGP_C3HHeJ_G0016179	protein coding gene	Chr1:123485080-123565848 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016814	protein coding gene	Chr1:128996553-129075394 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014527	protein coding gene	Chr1:113428988-113501810 (+)
CAST/EiJ	MGP_CASTEiJ_G0015760	protein coding gene	Chr1:122308916-122389844 (+)
CBA/J	MGP_CBAJ_G0016152	protein coding gene	Chr1:133451679-133536362 (+)
DBA/2J	MGP_DBA2J_G0016258	protein coding gene	Chr1:118821723-118896148 (+)
FVB/NJ	MGP_FVBNJ_G0016257	protein coding gene	Chr1:117586879-117662374 (+)
LP/J	MGP_LPJ_G0016329	protein coding gene	Chr1:125610800-125690198 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016282	protein coding gene	Chr1:139143137-139223093 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016850	protein coding gene	Chr1:123065491-123148896 (+)
PWK/PhJ	MGP_PWKPhJ_G0015546	protein coding gene	Chr1:117832574-117908550 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015334	protein coding gene	Chr1:121987768-122064094 (+)
WSB/EiJ	MGP_WSBEiJ_G0015822	protein coding gene	Chr1:122948222-123024381 (+)

Human Ortholog

CCDC93, coiled-coil domain containing 93

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CCDC93, coiled-coil domain containing 93
Links

HGNC:25611

NCBI Gene ID: 54520

neXtProt AC: NX_Q567U6

UniProt: Q567U6
Chr Location

2q14.1; chr2:117915478-118014133 (-) GRCh38

MGI Vertebrate Homology

Ccdc93 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CCDC93
Gene Tree

Ccdc93

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
1 images
12 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

14
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

4
Radiation induced

1
Targeted

4
Genomic Mutations

3 involving Ccdc93
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

54 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele show decreased embryo size, embryonic growth retardation, disorganized extraembryonic tissue, failure of primitive streak formation and gastrulation, increased cell death, and complete embryonic lethality by E9.5.

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All GO Annotations

8
GO References

6

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

713
Tissues

4
cDNA Data

90
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CCDC93

Xenbase ccdc93

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All Sequences

59
RefSeq

4
UniProt

8
CCDS

CCDS15237.1, CCDS15238.2

Ensembl

ENSMUSG00000026339 (Evidence)
NCBI Gene

70829

			Length	Strain/Species	Flank
genomic	70829	NCBI Gene Model \| MGI Sequence Detail	75394	C57BL/6J	± kb
transcript	NM_001025156	RefSeq \| MGI Sequence Detail	7272	C57BL/6
polypeptide	Q7TQK5	UniProt \| EBI \| MGI Sequence Detail	629	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000029343 coiled-coil domain-containing protein 93

(term hierarchy)
InterPro Domains

IPR019159 CCDC93, coiled-coil domain

IPR048747 CCDC93, N-terminal domain

IPR039116 Coiled-coil domain-containing protein 93

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All nucleic 90

cDNA 90

Microarray probesets 7

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MGI:1924929

Summaries

All 40

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 12
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:354232 Kumar N, et al., Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction. PLoS Genet. 2024 Sep;20(9):e1011151

TSS for Ccdc93:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr8424	Chr1:121358780-121358853 (+)	21 bp
Tssr8425	Chr1:121358857-121358881 (+)	73 bp
Tssr8426	Chr1:121389963-121389976 (+)	31,174 bp
Tssr8427	Chr1:121414672-121414677 (+)	55,879 bp
Tssr8428	Chr1:121414678-121414690 (+)	55,888 bp
Tssr8429	Chr1:121414699-121414709 (+)	55,908 bp
Tssr8430	Chr1:121423138-121423149 (+)	64,348 bp
Tssr8431	Chr1:121423594-121423624 (+)	64,813 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