Mbd5 MGI Mouse Gene Detail - MGI:2138934 - methyl-CpG binding domain protein 5

Symbol

Mbd5
Name

methyl-CpG binding domain protein 5
Synonyms

9430004D19Rik, C030040A15Rik, OTTMUSG00000012483

Feature Type

protein coding gene
IDs

MGI:2138934
NCBI Gene: 109241
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr2:48839511-49209702 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 28.43 cM, cytoband C1
Mapping Data

3 experiments

SNPs within 2kb

8940 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2138934	protein coding gene	Chr2:48839511-49215417 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025721	protein coding gene	Chr2:48092548-48487703 (+)
A/J	MGP_AJ_G0025697	protein coding gene	Chr2:46273455-46658820 (+)
AKR/J	MGP_AKRJ_G0025667	protein coding gene	Chr2:47616586-48001939 (+)
BALB/cJ	MGP_BALBcJ_G0025692	protein coding gene	Chr2:46394441-46769939 (+)
C3H/HeJ	MGP_C3HHeJ_G0025453	protein coding gene	Chr2:47587038-47974623 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026138	protein coding gene	Chr2:49578660-49971913 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023544	protein coding gene	Chr2:44341367-44708501 (+)
CAST/EiJ	MGP_CASTEiJ_G0024918	protein coding gene	Chr2:47635211-48035457 (+)
CBA/J	MGP_CBAJ_G0025433	protein coding gene	Chr2:51436833-51838322 (+)
DBA/2J	MGP_DBA2J_G0025564	protein coding gene	Chr2:45905791-46282337 (+)
FVB/NJ	MGP_FVBNJ_G0025526	protein coding gene	Chr2:45628648-45999879 (+)
LP/J	MGP_LPJ_G0025652	protein coding gene	Chr2:48015336-48428343 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025557	protein coding gene	Chr2:52402485-52883603 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026196	protein coding gene	Chr2:47513231-47893014 (+)
PWK/PhJ	MGP_PWKPhJ_G0024659	protein coding gene	Chr2:45782975-46159097 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024464	protein coding gene	Chr2:47662092-48051970 (+)
WSB/EiJ	MGP_WSBEiJ_G0024985	protein coding gene	Chr2:47747776-48157524 (+)

Human Ortholog

MBD5, methyl-CpG binding domain protein 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MBD5, methyl-CpG binding domain protein 5
Synonyms

C2DELq23.1, DEL2Q23.1, MRD1
Links

HGNC:20444

NCBI Gene ID: 55777

neXtProt AC: NX_Q9P267

UniProt: Q9P267
Chr Location

2q23.1; chr2:148020927-148516971 (+) GRCh38

MGI Vertebrate Homology

Mbd5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MBD5
Gene Tree

Mbd5

Diseases

1 with Mbd5 mouse models; 2 with human MBD5 associations

Human Disease

Mouse Models

autosomal dominant intellectual developmental disorder

IDs

View 1 model

autism spectrum disorder

IDs

autosomal dominant intellectual developmental disorder 1

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

40 phenotypes from 4 alleles in 4 genetic backgrounds
2 images
20 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

23
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

13
Targeted

7
Genomic Mutations

1 involving Mbd5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

68 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozgyous for a knock-out allele exhibit severe postnatal growth retardation leading to lethality by P22, decreased body, brain and liver weights, reduced IGF-I and GH levels, and abnormal glucose homeostasis.

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All GO Annotations

17
GO References

5

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

758
Tissues

34
cDNA Data

45
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mbd5

ZFIN mbd5

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All Sequences

111
RefSeq

38
UniProt

9
CCDS

CCDS38122.1, CCDS71051.1

Ensembl

ENSMUSG00000036792 (Evidence)
NCBI Gene

109241

			Length	Strain/Species	Flank
genomic	109241	NCBI Gene Model \| MGI Sequence Detail	370192	C57BL/6J	± kb
transcript	NM_029924	RefSeq \| MGI Sequence Detail	7055	Not Specified
polypeptide	B1AYB6	UniProt \| EBI \| MGI Sequence Detail	1498	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000031817 methyl-CpG-binding domain protein 5

(term hierarchy)
InterPro Domains

IPR001739 Methyl-CpG DNA binding

IPR000313 PWWP domain

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All nucleic 50

Genomic 2

cDNA 45

Primer pair 3

Microarray probesets 6

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MGI:1924532, MGI:1924789, MGI:2138787, MGI:3705319

Summaries

All 50

Developmental Gene Expression 2

Diseases 1

Gene Ontology 5

Phenotypes 20
Earliest

J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
Latest

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

TSS for Mbd5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr17658	Chr2:48839507-48839534 (+)	10 bp
Tssr17659	Chr2:48839536-48839555 (+)	35 bp
Tssr17660	Chr2:48839557-48839568 (+)	52 bp
Tssr17661	Chr2:48839574-48839629 (+)	91 bp
Tssr17662	Chr2:48840125-48840140 (+)	622 bp
Tssr17663	Chr2:48864429-48864434 (+)	24,921 bp
Tssr17664	Chr2:48879036-48879038 (+)	39,526 bp
Tssr17665	Chr2:49022504-49022522 (+)	183,002 bp
Tssr17666	Chr2:49114210-49114212 (+)	274,700 bp
Tssr17667	Chr2:49120576-49120577 (+)	281,066 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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