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FLASH GENE

Symbol

MYO15A

contributors: mct - updated : 12-04-2023

HGNC name	myosin XVA
HGNC id	7594

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNB3 neurosensory deafness 3
Location	17p11.2      Physical location : 18.012.019 - 18.083.115
Synonym name	unconventional myosin-15
Synonym symbol(s)	MYO15, DKFZp686N18198, FLJ31311, FLJ17274

DNA

TYPE	functioning gene
STRUCTURE	71.10 kb     66 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D17S71 - DRG2 - MYO15A /D17S2206 /D17S2207 - D17S2201 - cen see SMCR (phenotype)
Authors	Liang (99)
Text	(D17S2206 , D17S2207 : polymorphic markers within the MYO15 gene)

regionally located

within the Smith-Magenis critical region

RNA

TRANSCRIPTS	type	messenger

text	with several alternatively spliced isoforms (Liang)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016239 66 - 11876 NP_057323 395 3530 - Nal (2007) variant 2 - - - isoform 2 - - - Nal (2007) presence of the exon 2, containing the large N-terminal extension necessary role for normal hearing function variant 3 - - - isoform 3 - 2327 - Nal (2007) absence of the exon 2

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 endocrine brain diencephalon pituitary     Hearing/Equilibrium ear inner cochlea     Nervous brain hindbrain medulla oblongata     Reproductive female system ovary         male system testis

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	very long terminal extension with a high proline content preceding the motor domain comprising one consensus ATP binding site and two putative actin-binding sites
	a neck containing two IQ calmodulin or calmodulin-like chain binding domains and
	a tail containing two myosin IV-like,and two C terminal talin-like (FERM) (EPB41,ezrin,radixin,moesin) domains, involved in the linkage of cytoplasmic proteins to the membrane
	a putative SH3 domain

conjugated

FlavoP

mono polymer

heteromer

HOMOLOGY

Homologene

FAMILY

myosin family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament
text	linked to the plasma membrane

basic FUNCTION	involved in structure and function of auditory and vestibular hair cells
	playing a necessary role for actin organization in the hair cells of the cochlea
	may be having a role in secretory granule movement and/or hormone secretion
	motor protein, necessary for the development of hair cell stereocilia, which are actin-filled projections on the apical surface and the site of mechanotransduction of sound
	may be involved in cytoplasmic organelle movement, including secretory granules in pituitary cells and pituitary adenomas
	traffics and delivers critical molecules required for stereocilia development and thus is essential for building the mechanosensory hair bundle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component	MYO15A, DFNB31, and EPS8 are integral components of the stereocilia tip complex, where EPS8 is a central actin-regulatory element for elongation of the stereocilia actin core
	MYO15A-EPS8 complex transports BAIAP2L2 to stereocilia tips, and Ca2+ entry through open channels at row 2 tips retains BAIAP2L2 there

INTERACTION

DNA

RNA

small molecule

protein

BAIAP2L2 localization to stereocilia tips is dependent on the motor protein MYO15A and its cargo EPS8

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   overexpressed in endocrine tumors cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS