TPRN (taperin)

2014-11-01  

Identity

HGNC
TPRN
LOCATION
9q34.3
LOCUSID
286262
ALIAS
C9orf75,DFNB79
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 286262
MIM: 613354
HGNC: 26894
Ensembl: ENSG00000176058

Variants:

dbSNP: 286262
ClinVar: 286262
TCGA: ENSG00000176058
COSMIC: TPRN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176058ENST00000333046H3BLU1
ENSG00000176058ENST00000409012Q4KMQ1

Expression (GTEx)

0
50
100
150
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
379520862024Critical role of TPRN rings in the stereocilia for hearing.1
379520862024Critical role of TPRN rings in the stereocilia for hearing.1
233407672013The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.2
233407672013The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.2
201708982010Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.30
201708992010Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.99
201708982010Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.30
201708992010Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.99

Citation

Dessen P

TPRN (taperin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75083/img/css/card-gene.css