Mcmdc2 MGI Mouse Gene Detail - MGI:3045334 - minichromosome maintenance domain containing 2

Symbol

Mcmdc2
Name

minichromosome maintenance domain containing 2
Synonyms

6030422M02Rik

Feature Type

protein coding gene
IDs

MGI:3045334
NCBI Gene: 240697
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr1:9978863-10011179 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 2.19 cM
Mapping Data

1 experiment

SNPs within 2kb

916 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3045334	protein coding gene	Chr1:9978863-10012310 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015829	protein coding gene	Chr1:7166818-7205800 (+)
A/J	MGP_AJ_G0015811	protein coding gene	Chr1:7226714-7262856 (+)
AKR/J	MGP_AKRJ_G0015770	protein coding gene	Chr1:7109749-7150643 (+)
BALB/cJ	MGP_BALBcJ_G0015767	protein coding gene	Chr1:6961663-6996323 (+)
C3H/HeJ	MGP_C3HHeJ_G0015601	protein coding gene	Chr1:7029034-7071597 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016221	protein coding gene	Chr1:7508331-7543510 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0013942	protein coding gene	Chr1:6062557-6099936 (+)
CAST/EiJ	MGP_CASTEiJ_G0015181	protein coding gene	Chr1:7229871-7265660 (+)
CBA/J	MGP_CBAJ_G0015574	protein coding gene	Chr1:7655482-7702068 (+)
DBA/2J	MGP_DBA2J_G0015673	protein coding gene	Chr1:6845292-6879560 (+)
FVB/NJ	MGP_FVBNJ_G0015678	protein coding gene	Chr1:6759947-6796093 (+)
LP/J	MGP_LPJ_G0015745	protein coding gene	Chr1:7384802-7421322 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015697	protein coding gene	Chr1:8326314-8362392 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016267	protein coding gene	Chr1:7013806-7051909 (+)
PWK/PhJ	MGP_PWKPhJ_G0014965	protein coding gene	Chr1:6711895-6747506 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014745	protein coding gene	Chr1:7179774-7219543 (+)
WSB/EiJ	MGP_WSBEiJ_G0015245	protein coding gene	Chr1:7045408-7082258 (+)

Human Ortholog

MCMDC2, minichromosome maintenance domain containing 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MCMDC2, minichromosome maintenance domain containing 2
Synonyms

C8orf45
Links

HGNC:26368

NCBI Gene ID: 157777

neXtProt AC: NX_Q4G0Z9

UniProt: Q4G0Z9
Chr Location

8q13.1; chr8:66870749-66926382 (+) GRCh38

MGI Vertebrate Homology

Mcmdc2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MCMDC2
Gene Tree

Mcmdc2

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Phenotype Summary

10 phenotypes from 1 allele in 1 genetic background
2 phenotypes from multigenic genotypes
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

8
Targeted

8
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

32 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous knockout mice of both sexes are sterile as a result of abnormal meiosis. This in turn is caused by defective double-strand break DNA repair.

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All GO Annotations

12
GO References

3

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

706
cDNA Data

6

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

44
RefSeq

4
UniProt

5
CCDS

CCDS48215.1

Ensembl

ENSMUSG00000046101 (Evidence)
NCBI Gene

240697

			Length	Strain/Species	Flank
genomic	240697	NCBI Gene Model \| MGI Sequence Detail	32317	C57BL/6J	± kb
transcript	NM_177722	RefSeq \| MGI Sequence Detail	2553	C57BL/6
polypeptide	E9Q956	UniProt \| EBI \| MGI Sequence Detail	681	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000030491 minichromosome maintenance domain-containing protein 2

(term hierarchy)
InterPro Domains

IPR041562 MCM, AAA-lid domain

IPR031327 Mini-chromosome maintenance protein

IPR027417 P-loop containing nucleoside triphosphate hydrolase

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All nucleic 6

cDNA 6

Microarray probesets 2

Summaries

All 21

Gene Ontology 3

Phenotypes 3
Earliest

J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
Latest

J:240633 McNairn AJ, et al., Repair of Meiotic DNA Breaks and Homolog Pairing in Mouse Meiosis Requires a Minichromosome Maintenance (MCM) Paralog. Genetics. 2017 Feb;205(2):529-537

TSS for Mcmdc2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr5921	Chr1:9978879-9978894 (+)	24 bp
Tssr5922	Chr1:9978904-9978911 (+)	45 bp
Tssr5923	Chr1:10002317-10002332 (+)	23,462 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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