2. Gene
  3. MBD6 - methyl-CpG binding domain protein 6 Gene

MBD6 - methyl-CpG binding domain protein 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：甲基-CpG 结合域蛋白 6

种属: Homo sapiens

基因 ID: 114785 | 基因类型: protein coding

关于 MBD6

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,520,715-57,531,545 (from NCBI)

This gene has 14 transcripts (splice variants), 176 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 15.8), spleen (RPKM 15.7) and 25 other tissues.

功能概要

启用染色质结合活性。位于色心；纤维中心;和核质。与自闭症谱系障碍有关。 [由基因组资源联盟提供，2022 年 4 月]

Enables chromatin binding activity. Located in chromocenter; fibrillar center; and nucleoplasm. Implicated in autism spectrum disorder. [provided by Alliance of Genome Resources, Apr 2022]

MBD6 基因产物(1)

mRNA Protein Name
NM_052897.4 NP_443129.3 methyl-CpG-binding domain protein 6
基因本体论
  • 分子功能
  • 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
28514442 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 6

methyl-CpG-binding protein MBD6

关联疾病

疾病名称 别名
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome

Erythrokeratodermia Variabilis 3

MEDNIK

Ekv3

Erythrokeratodermia Variabilis, Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Erythrokeratodermia Variabilis Kamouraska Type

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08186 MBD6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MBD6 RGD RGD:1311050
Felis catus MBD6 VGNC VGNC:63399
Macaca mulatta MBD6 VGNC VGNC:74545
Bos taurus MBD6 VGNC VGNC:31278
Canis familiaris MBD6 VGNC VGNC:43054
Mus musculus MBD6 MGD MGI:106378
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