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FLASH GENE

Symbol

MYO18B

contributors: mct - updated : 23-08-2014

HGNC name	myosin XVIIIB
HGNC id	18150

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	KFS4 Klippel-Feil syndrome 4 with myopathy and facial dysmorphism
Location	22q12.1      Physical location : 26.138.119 - 26.427.007
Synonym symbol(s)	CTA-109D1.1, FLJ41942

DNA

TYPE	functioning gene
STRUCTURE	315.23 kb     44 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_032608 44 - 8565 NP_115997 - 2567 - -

EXPRESSION

Type	restricted

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         Lymphoid/Immune lymph node         Nervous nerve spinal nerve sciatic       spinal cord         Reproductive male system testis       Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Membrane serous membrane pericardium     Muscular striatum cardiac   predominantly Homo sapiens Muscular striatum skeletal   predominantly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a iq domain
	a myosin head-like domain

HOMOLOGY

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	localized on the Z-lines of myofibrils in striated muscles

basic FUNCTION	may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm
	a candidate tumor suppressor gene involved in carcinogenesis
	unique unconventional myosin that is predominantly expressed in myocytes and whose expression is essential for the development and/or maintenance of myofibrillar structure

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with HOMER2 (enhanced the ability of MYO18B to suppress the anchorage-independent growth of a lung cancer cell line)
	interacts with the proteasomal subunit PSMC5 and is degraded by the ubiquitin-proteasome pathway

cell & other

REGULATION

induced by

its expression was induced by myogenic differentiation through the binding of myocyte-specific enhancer factor-2 to its promoter

ASSOCIATED DISORDERS

corresponding disease(s)

KFS4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in lung and ovarian carcinoma tumoral     --low   by hypermethylation in ovarian cancer tumoral       loss of function in colorectal cancer tumoral   LOH     in lung cancer tumoral     --low   by promoter DNA methylation and histone deacetylation, was observed in 70p100 of lung cancers

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deficiency of Myo18B caused an embryonic lethality in mice accompanied by disruption of myofibrillar structures in cardiac myocytes at embryonic day 10.5