Cep112 MGI Mouse Gene Detail - MGI:1923673

Symbol

Cep112
Name

centrosomal protein 112
Synonyms

1700001M19Rik, 1700029K01Rik, 8430407H02Rik, Ccdc46, Macoco

Feature Type

protein coding gene
IDs

MGI:1923673
NCBI Gene: 76380
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr11:108316041-108751441 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 71.83 cM
Mapping Data

3 experiments

SNPs within 2kb

17187 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923673	protein coding gene	Chr11:108316018-108751441 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019327	protein coding gene	Chr11:111892675-112347363 (+)
A/J	MGP_AJ_G0019295	protein coding gene	Chr11:107072206-107516972 (+)
AKR/J	MGP_AKRJ_G0019264	protein coding gene	Chr11:110281812-110715637 (+)
BALB/cJ	MGP_BALBcJ_G0019269	protein coding gene	Chr11:107502416-107951264 (+)
C3H/HeJ	MGP_C3HHeJ_G0019078	protein coding gene	Chr11:110595648-111046666 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019719	protein coding gene	Chr11:115301118-115762051 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017343	protein coding gene	Chr11:104336382-104753775 (+)
CAST/EiJ	MGP_CASTEiJ_G0018631	protein coding gene	Chr11:111705028-112139169 (+)
CBA/J	MGP_CBAJ_G0019047	protein coding gene	Chr11:120079198-120565578 (+)
DBA/2J	MGP_DBA2J_G0019159	protein coding gene	Chr11:106560049-106998573 (+)
FVB/NJ	MGP_FVBNJ_G0019150	protein coding gene	Chr11:106057069-106483247 (+)
LP/J	MGP_LPJ_G0019229	protein coding gene	Chr11:112327057-112771103 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019180	protein coding gene	Chr11:119261811-119741265 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019756	protein coding gene	Chr11:110846866-111292054 (+)
PWK/PhJ	MGP_PWKPhJ_G0018396	protein coding gene	Chr11:107709950-108145449 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018187	protein coding gene	Chr11:110596469-111055275 (+)
WSB/EiJ	MGP_WSBEiJ_G0018682	protein coding gene	Chr11:110779566-111216065 (+)

Human Ortholog

CEP112, centrosomal protein 112

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CEP112, centrosomal protein 112
Synonyms

CCDC46, MACOCO, SPGF44
Links

HGNC:28514

NCBI Gene ID: 201134

UniProt: Q8N8E3
Chr Location

17q24.1; chr17:65635537-66192133 (-) GRCh38

MGI Vertebrate Homology

Cep112 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CEP112
Gene Tree

Cep112

Diseases

1 with human CEP112 associations

				Human Disease	Mouse Models
				spermatogenic failure 44 IDs spermatogenic failure 44 DOID:0112109 OMIM:619044

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
3 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

2
Endonuclease-mediated

2
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

51 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

4
GO References

2

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

27
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cep112

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All Sequences

103
RefSeq

26
UniProt

11
CCDS

CCDS36359.1, CCDS48966.1, CCDS48967.1

Ensembl

ENSMUSG00000020728 (Evidence)
NCBI Gene

76380

			Length	Strain/Species	Flank
genomic	76380	NCBI Gene Model \| MGI Sequence Detail	435401	C57BL/6J	± kb
transcript	NM_029606	RefSeq \| MGI Sequence Detail	3516	C57BL/6
polypeptide	Q5PR68	UniProt \| EBI \| MGI Sequence Detail	954	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000031145 centrosomal protein of 112 kDa

(term hierarchy)
InterPro Domains

IPR027831 Domain of unknown function DUF4485

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All nucleic 27

cDNA 27

Microarray probesets 5

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MGI:1918712, MGI:1923630, MGI:2142738, MGI:2144454

Summaries

All 28

Developmental Gene Expression 1

Gene Ontology 2

Phenotypes 3
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:357758 Zhang X, et al., CEP112 coordinates translational regulation of essential fertility genes during spermiogenesis through phase separation in humans and mice. Nat Commun. 2024 Sep 30;15(1):8465

TSS for Cep112:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr105609	Chr11:108316068-108316130 (+)	58 bp
Tssr105610	Chr11:108477918-108477936 (+)	161,886 bp
Tssr105611	Chr11:108477957-108477962 (+)	161,919 bp
Tssr105612	Chr11:108497073-108497104 (+)	181,048 bp
Tssr105614	Chr11:108573440-108573465 (+)	257,412 bp
Tssr105615	Chr11:108573469-108573478 (+)	257,433 bp
Tssr105616	Chr11:108638530-108638532 (+)	322,490 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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