MBD5 - methyl-CpG binding domain protein 5 Gene

Also Known as MRD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55777

About MBD5

Cytogenetic location: 2q23.1 Genomic coordinates (GRCh38): 2:148,020,927-148,516,971 (from NCBI)

This gene has 33 transcripts (splice variants), 228 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 2.6), gall bladder (RPKM 2.4) and 25 other tissues.

Summary

This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 Amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]

MBD5 Products (2)

mRNA	Protein	Name
NM_001378120.1	NP_001365049.1	methyl-CpG-binding domain protein 5 isoform 1
NM_018328.5	NP_060798.2	methyl-CpG-binding domain protein 5 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables DNA binding	IDA IDA: Inferred from direct assay	20700456	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	20700456	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	23587880	GOA
involved in regulation of behavior	IMP IMP: Inferred from mutant phenotype	23587880	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromocenter	IDA IDA: Inferred from direct assay	20700456	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20700456	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
methyl-CpG-binding domain protein 5	methyl-CpG-binding protein MBD5

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 1	MRD1 Autosomal Dominant Non-Syndromic Intellectual Disability 1 Mental Retardation, Autosomal Dominant 1 Autosomal Dominant Intellectual Developmental Disorder 1
Mbd5 Haploinsufficiency	2q23.1 Microdeletion Syndrome 2q23.1 Microduplication Syndrome Del(2)(Q23.1) Monosomy 2q23.1 Pseudo-Angelman Syndrome Mbd5 Associated Neurodevelopmental Disorder Chromosome 2q23.1 Microdeletion Syndrome Mbd5-Associated Neurodevelopmental Disorder Mand Dup(2)(Q23.1) Trisomy 2q23.1
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Autosomal Dominant Non-Syndromic Intellectual Disability
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Autosomal Dominant Intellectual Developmental Disorder 31	Autosomal Dominant Non-Syndromic Intellectual Disability 31 Autosomal Dominant Mental Retardation 31 Mrd31
Christianson Syndrome	X-Linked Angelman-Like Syndrome X-Linked Intellectual Disability, South African Type X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome Mental Retardation, X-Linked Syndromic, Christianson Type Mrxsch Angelman-Like Syndrome X-Linked Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome Intellectual Disability X-Linked Syndromic Christianson Type Mrxs Christianson X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy Angelman-Like Syndrome, X-Linked Intellectual Deficit, X-Linked, South African Type Mental Retardation X-Linked, South African Type Mental Retardation, X-Linked, Syndromic, Christianson Type
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Bainbridge-Ropers Syndrome	BRPS Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome Asxl3-Related Disorder
Complex Partial Epilepsy	Epilepsy, Complex Partial Complex Partial Epileptic Seizure Epilepsy, Psychomotor Psychomotor Epilepsy
Diaphragmatic Eventration
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Syndromic Intellectual Disability
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08185	MBD5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20053	Mecp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22229	Mbd5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28751	Mbd5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MBD5	VGNC	VGNC:43053
Bos taurus	MBD5	VGNC	VGNC:31277
Macaca mulatta	MBD5	VGNC	VGNC:74544
Rattus norvegicus	MBD5	RGD	RGD:1562961
Felis catus	MBD5	VGNC	VGNC:63398
Mus musculus	MBD5	MGD	MGI:2138934
Others	MBD5	NCBI