OTOF (otoferlin)

2016-10-01  

Identity

HGNC
OTOF
LOCATION
2p23.3
LOCUSID
9381
ALIAS
AUNB1,DFNB6,DFNB9,FER1L2,NSRD9

Other Information

Locus ID:

NCBI: 9381
MIM: 603681
HGNC: 8515
Ensembl: ENSG00000115155

Variants:

dbSNP: 9381
ClinVar: 9381
TCGA: ENSG00000115155
COSMIC: OTOF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115155ENST00000272371Q9HC10
ENSG00000115155ENST00000338581Q9HC10
ENSG00000115155ENST00000339598Q9HC10
ENSG00000115155ENST00000402415A0A2U3TZT7
ENSG00000115155ENST00000403946Q9HC10
ENSG00000115155ENST00000426958H7BZJ5

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
170554302006Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.216
101923851999A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.140
125255422003Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.56
91757031997A nematode gene required for sperm vesicle fusion.51
183816132008A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.51
183816132008A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.51
229597772012Otoferlin: a multi-C2 domain protein essential for hearing.46
146351042003Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).44
190048282009Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.40
163715022006OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.35

Citation

Dessen P

OTOF (otoferlin)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56122/otof