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FLASH GENE

Symbol

MBD5

contributors: /mct - updated : 24-11-2021

HGNC name	methyl-CpG binding domain protein 5
HGNC id	20444

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL2Q23 chromosome 2q23.1 interstitial deletion MRD1 mental retardation, autosomal dominant 1
Location	2q23.3      Physical location : 148.778.579 - 149.271.042
Synonym name	methyl-CpG-binding protein MBD5
Synonym symbol(s)	FLJ11113, KIAA1461, FLJ30517, MRD1

DNA

TYPE	functioning gene
STRUCTURE	495.96 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018328 14 - 9512 NP_060798 159.8 1494 - 2021 33427406 NM_001378120 14 - 10732 NP_001365049 - 1727 - 2021 33427406

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       lowly Endocrine pancreas       highly Nervous brain       highly Homo sapiens Adult Respiratory lung       lowly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	CpG binding domain
	a PWWP domain
	a putative Methyl-Binding Domain (MBD)

HOMOLOGY

interspecies

homolog to rattus LOC311026

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome,heterochromosome
text	colocalize with heterochromatin (Laget 2010)

basic FUNCTION	may be a transcription coactivator
	may contribute to the formation or function of heterochromatin (Laget 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

interacts with KIAA1549

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL2Q23 , MRD1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       ID via EHMT1-associated chromatin modification module

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS