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FLASH GENE

Symbol

TMIE

contributors: mct/npt - updated : 12-12-2017

HGNC name	transmembrane inner ear
HGNC id	30800

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNB6 neurosensory deafness 6
Location	3p21.31      Physical location : 46.742.822 - 46.752.413
Synonym name	transmembrane inner ear expressed gene

DNA

TYPE	functioning gene
STRUCTURE	9.60 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

Binding site

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_147196 4 - 1861 NP_671729 - 156 - Santos (2006)

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 Hearing/Equilibrium ear inner cochlea Corti highly Urinary kidney         Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	intracellular N terminus
	two transmembrane regions seaprated by an extracellular loop
	one single transmembrane domain
	one signal peptide

HOMOLOGY

interspecies

ortholog to murine Tmie

Homologene

FAMILY

CATEGORY

regulatory , signaling neurotransmitter

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	required for normal postnatal maturation of sensory hair cells in the cochlea
	required for inner ear development and function and for hair cell maturation in the vestibular and lateral line systems as well (Shen 2008)
	LHFPL5, TMIE, TMC1, and TMC2 have so far been linked to the transduction channel

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

TMIE forms a ternary complex with the tip-link component PCDH15 and its binding partner LHFPL5

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS