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FLASH GENE

Symbol

RBM20

contributors: SGE/npt - updated : 10-12-2009

HGNC name	RNA binding motif protein 20
HGNC id	27424

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1DD cardiomyopathy, dilated 1 DD
Location	10q25.2      Physical location : 112.404.154 - 112.599.227

DNA

TYPE	functioning gene
STRUCTURE	195.07 kb     14 Exon(s)

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_001134363 14 - 7233 NP_001127835 - 1227 - Brauch (2009)

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

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	RNA recognition motif-1 (RRM1)
	an arginine/serine (RS)-rich domain
	a U1-type zinc finger domain (Brauch 2009)

HOMOLOGY

Homologene

FAMILY

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION

basic FUNCTION	encodes motifs prototypical of spliceosome proteins that regulate alternative pre-messenger RNA splicing (Brauch 2009)
	RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

binding

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1DD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS