Mbd5 methyl-CpG binding domain protein 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mbd5provided by MGI
Official Full Name: methyl-CpG binding domain protein 5provided by MGI
Primary source: MGI:MGI:2138934
See related: Ensembl:ENSMUSG00000036792 AllianceGenome:MGI:2138934
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm1630; 9430004D19Rik; C030040A15Rik
Summary: Predicted to enable chromatin binding activity. Acts upstream of or within glucose homeostasis; positive regulation of growth hormone receptor signaling pathway; and regulation of growth. Predicted to be located in midbody and nucleoplasm. Predicted to be active in chromocenter and nucleus. Is expressed in several structures, including brain; liver; small intestine; spinal cord; and spleen. Used to study autosomal dominant non-syndromic intellectual disability. Human ortholog(s) of this gene implicated in autism spectrum disorder and autosomal dominant non-syndromic intellectual disability 1. Orthologous to human MBD5 (methyl-CpG binding domain protein 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 3.0), cerebellum adult (RPKM 2.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C1.1; 2 28.43 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (48839511..49209702)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (48949499..49319688)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MBD5 regulates NMDA receptor expression and seizures by inhibiting Stat1 transcription.
Title: MBD5 regulates NMDA receptor expression and seizures by inhibiting Stat1 transcription.
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
Title: Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
This study indicates that the Mbd5(+/) (GT) mouse model recapitulates most of the hallmark phenotypes observed in 2q23.1 deletion carriers including abnormal social behavior, cognitive impairment, and motor and craniofacial abnormalities.
Title: Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.
MBD5 regulates iron metabolism via methylation-independent genomic targeting of Fth1.
Title: MBD5 regulates iron metabolism via methylation-independent genomic targeting of Fth1 through KAT2A in mice.
These results indicate Mbd5 as an essential factor for mouse postnatal growth and maintenance of glucose homeostasis
Title: The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (5) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI426407 (e-PCR)
- UniSTS:165167

MARC_16821-16822:1021560530:2 (e-PCR)
- UniSTS:268131

MARC_16821-16822:1033505180:1 (e-PCR)
- UniSTS:268131

G09491 (e-PCR)
- UniSTS:53662

D2Mit72 (e-PCR), detects polymorphism
- UniSTS:129466

D2Mit374 (e-PCR), detects polymorphism
- UniSTS:129271

RH124450 (e-PCR)
- UniSTS:161272

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of growth hormone receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in chromocenter	IBA Inferred from Biological aspect of Ancestor more info
located_in chromocenter	ISO Inferred from Sequence Orthology more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: methyl-CpG-binding domain protein 5

Names: methyl-CpG-binding protein MBD5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290656.1 → NP_001277585.1 methyl-CpG-binding domain protein 5 isoform b

See identical proteins and their annotated locations for NP_001277585.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. The 5' UTR of this variant is incomplete due to a lack of full-length transcript support and splice pattern ambiguity in the upstream region.

Source sequence(s)

AL845298, AV298746, BQ551845, BU610422, BX546465, CB522230

Consensus CDS

CCDS71051.1

UniProtKB/Swiss-Prot

B1AYB6

UniProtKB/TrEMBL

Q69ZJ2

Related

ENSMUSP00000108374.2, ENSMUST00000112754.8

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1387 → 1464

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
NM_029924.2 → NP_084200.1 methyl-CpG-binding domain protein 5 isoform a

See identical proteins and their annotated locations for NP_084200.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). This variant has an inferred 5' UTR exon combination based on the mRNA AK155574.1.

Source sequence(s)

AK173176, AL845298, AL845521

Consensus CDS

CCDS38122.1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

48839511..49209702

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157515.1 → XP_036013408.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_030246630.2 → XP_030102490.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_036157519.1 → XP_036013412.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_030246635.2 → XP_030102495.1 methyl-CpG-binding domain protein 5 isoform X3

UniProtKB/Swiss-Prot

B1AYB6

UniProtKB/TrEMBL

Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1387 → 1464

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_036157520.1 → XP_036013413.1 methyl-CpG-binding domain protein 5 isoform X3

UniProtKB/Swiss-Prot

B1AYB6

UniProtKB/TrEMBL

Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1387 → 1464

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_036157511.1 → XP_036013404.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_036157512.1 → XP_036013405.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_030246625.2 → XP_030102485.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_036157516.1 → XP_036013409.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_036157513.1 → XP_036013406.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_017314911.3 → XP_017170400.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_030246624.1 → XP_030102484.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_030246638.2 → XP_030102498.1 methyl-CpG-binding domain protein 5 isoform X4

UniProtKB/TrEMBL

F6Q8U1

Related

ENSMUSP00000119317.2, ENSMUST00000122841.8

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1254 → 1293

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_006497604.3 → XP_006497667.1 methyl-CpG-binding domain protein 5 isoform X2

UniProtKB/TrEMBL

Q69ZJ2

Conserved Domains (1) summary

cl02554
Location:1498 → 1575

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_030246629.2 → XP_030102489.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Related

ENSMUSP00000036847.4, ENSMUST00000047413.10

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...
XM_030246628.2 → XP_030102488.1 methyl-CpG-binding domain protein 5 isoform X1

UniProtKB/TrEMBL

B1AYB5, Q69ZJ2

Conserved Domains (2) summary

cl00110
Location:21 → 79

MBD; MeCP2, MBD1, MBD2, MBD3, MBD4, CLLD8-like, and BAZ2A-like proteins constitute a family of proteins that share the methyl-CpG-binding domain (MBD). The MBD consists of about 70 residues and is defined as the minimal region required for binding to ...

cl02554
Location:1617 → 1694

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...