TMIE (transmembrane inner ear)

2014-11-01  

Identity

HGNC
TMIE
LOCATION
3p21.31
LOCUSID
259236
ALIAS
DFNB6

Other Information

Locus ID:

NCBI: 259236
MIM: 607237
HGNC: 30800
Ensembl: ENSG00000181585

Variants:

dbSNP: 259236
ClinVar: 259236
TCGA: ENSG00000181585
COSMIC: TMIE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181585ENST00000643606Q8NEW7
ENSG00000181585ENST00000644830A0A2R8YDZ8
ENSG00000181585ENST00000651652A0A494C1A3

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
244162832014Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.14
121401912002Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.0
121457462002Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.0
147278132003Fine mapping of the circling (cir) gene on the distal portion of mouse chromosome 9.0
194389342009A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.0
202063862010Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.0
202063862010Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.0

Citation

Dessen P

TMIE (transmembrane inner ear)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74999/tmie