MBD6 - methyl-CpG binding domain protein 6 Gene

Homo sapiens

Gene ID: 114785 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_052897.4	NP_443129.3	methyl-CpG-binding domain protein 6

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	28514442	GOA

Cellular Component GO Annotation	Evidence	Reference	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 6

methyl-CpG-binding protein MBD6

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08186	MBD6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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