1. Gene
  2. MBD5 - methyl-CpG binding domain protein 5 Gene

MBD5 - methyl-CpG binding domain protein 5 Gene

中文名称:甲基-CpG 结合域蛋白 5

种属: Homo sapiens

同用名: MRD1

基因 ID: 55777 | 基因类型: protein coding

关于 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.

功能概要

该基因编码甲基 CpG 结合域 (MBD) 家族的成员。 MBD 由大约 70 个残基组成,是甲基 CpG 结合蛋白特异性结合甲基化 DNA 所需的最小区域。除了 MBD 结构域外,该蛋白质还包含一个 PWWP 结构域 (Pro-Trp-Trp-Pro 基序) ,它由 100-150 个氨基酸组成,存在于许多参与细胞分裂、生长和分化的蛋白质中。该基因的突变会导致常染色体显性遗传类型的认知障碍。编码的蛋白质与多梳抑制复合物 PR-DUB 相互作用,后者催化组蛋白 2A 的赖氨酸残基去泛素化。该基因的单倍体不足与涉及小头畸形、智力障碍、严重言语障碍和癫痫发作的综合征有关。已发现可变剪接的转录本变体,但尚未确定其全长性质。[RefSeq 提供,2017 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables DNA binding IDA
IDA: 通过直接分析推断
20700456 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
20700456 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nervous system development IMP
IMP: 通过突变表型推断
23587880 GOA
involved in regulation of behavior IMP
IMP: 通过突变表型推断
23587880 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromocenter IDA
IDA: 通过直接分析推断
20700456 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20700456 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

methyl-CpG-binding domain protein 5

methyl-CpG-binding protein MBD5

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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