TPRN - taperin Gene

Also Known as DFNB79; C9orf75

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 286262

About TPRN

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,191,619-137,200,741 (from NCBI)

This gene has 4 transcripts (splice variants), 177 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 6.8), small intestine (RPKM 4.8) and 25 other tissues.

Summary

This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]

TPRN Products (1)

mRNA	Protein	Name
NM_001128228.3	NP_001121700.2	taperin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22321011	GOA
enables protein phosphatase 1 binding	IPI IPI: Inferred from physical interaction	23213405	GOA
enables protein serine/threonine phosphatase inhibitor activity	IDA IDA: Inferred from direct assay	23213405	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	20170898	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23213405	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	23213405	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TPRN Protein Structure

Phostensin_N

Phostensin

0
200
400
600
711 a.a.

Protein Preferred Names	Protein Names
taperin

TPRN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TPRN	Q4KMQ1	PPP1CA	Homo sapiens	P62136	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 79	DFNB79 Autosomal Recessive Nonsyndromic Deafness 79 Autosomal Recessive Deafness 79 Deafness, Autosomal Recessive, 79 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79 Deafness, Autosomal Recessive, Type 79
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 58	DFNA58 Autosomal Dominant Nonsyndromic Deafness 58 Autosomal Dominant Deafness 58
Deafness, Autosomal Recessive 61	DFNB61 Autosomal Recessive Nonsyndromic Deafness 61 Autosomal Recessive Deafness 61 Deafness, Autosomal Recessive, 61 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 Deafness, Autosomal Recessive, Type 61
Deafness, Autosomal Recessive 25	DFNB25 Autosomal Recessive Nonsyndromic Deafness 25 Autosomal Recessive Deafness 25 Deafness, Autosomal Recessive, 25 Deafness, Autosomal Recessive, Type 25
Deafness, Autosomal Recessive 101	DFNB101 Autosomal Recessive Nonsyndromic Deafness 101 Autosomal Recessive Deafness 101 Deafness, Autosomal Recessive, 101 Deafness, Autosomal Recessive, Type 101
Deafness, Autosomal Recessive 24	DFNB24 Deafness, Autosomal Recessive, 24 Autosomal Recessive Nonsyndromic Deafness 24 Autosomal Recessive Deafness 24 Deafness, Autosomal Recessive, Type 24
Loeys-Dietz Syndrome 2	LDS2 Aat3 Marfan Syndrome Type 2 Aortic Aneurysm, Familial Thoracic 3 Marfan Syndrome Type Ii Loeys-Dietz Syndrome Type 2 Mfs2 Marfan Syndrome, Type Ii, Formerly Familial Throacic Aortic Aneurysm 3 Familial Aortic Aneurysm Thoracic Type 3 Taad2 Thoracic Aortic Aneurysms And Dissection 2 Aneurysm, Aortic, Thoracic, Familial, Type 3 Loeys-Dietz Syndrome, Type 2
Deafness, Autosomal Dominant 3a	DFNA3A Autosomal Dominant Nonsyndromic Deafness 3a Autosomal Dominant Deafness 3a Deafness, Autosomal Dominant, 3a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a Deafness, Autosomal Dominant, Type 3a
Deafness, Autosomal Dominant 4b	DFNA4B Autosomal Dominant Nonsyndromic Deafness 4b Autosomal Dominant Deafness 4b Deafness, Autosomal Dominant, 4b Deafness, Autosomal Dominant, Type 4b
Deafness, X-Linked 3	DFNX3 Dfn4 X-Linked Deafness 3 Deafness, X-Linked 4, Congenital Sensorineural Congenital Sensorineural X-Linked Deafness 4
Autosomal Recessive Nonsyndromic Deafness 36	Autosomal Recessive Deafness 36 Dfnb36 Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 3b	DFNA3B Autosomal Dominant Nonsyndromic Deafness 3b Autosomal Dominant Deafness 3b Deafness, Autosomal Dominant, 3b Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b Deafness, Autosomal Dominant, Type 3b
Deafness, Autosomal Recessive 91	DFNB91 Autosomal Recessive Nonsyndromic Deafness 91 Autosomal Recessive Deafness 91 Deafness, Autosomal Recessive, 91 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91 Deafness, Autosomal Recessive, Type 91
Deafness, Autosomal Recessive 37	DFNB37 Autosomal Recessive Nonsyndromic Deafness 37 Autosomal Recessive Deafness 37 Deafness, Autosomal Recessive, 37 Congenital Neurosensory Deafness Autosomal Recessive 37 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37 Deafness, Autosomal Recessive, Type 37
Deafness, Autosomal Dominant 2a	DFNA2A Autosomal Dominant Nonsyndromic Deafness 2a Autosomal Dominant Deafness 2a Deafness, Autosomal Dominant, 2a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a Deafness, Autosomal Dominant, Type 2a
Deafness, Autosomal Dominant 51	Chromosome 9q21.11 Duplication Syndrome DFNA51 Autosomal Dominant Nonsyndromic Deafness 51 Autosomal Dominant Deafness 51 Deafness, Autosomal Dominant, Type 51
Athabaskan Brainstem Dysgenesis Syndrome	Bosley-Salih-Alorainy Syndrome Navajo Brainstem Syndrome ABDS Human Hoxa1 Syndromes BSAS Athabaskan Brainstem Dysgenesis Bosley Salih Alorainy Syndrome Absd Athabascan Brainstem Dysgenesis Syndrome Narvajo Brainstem Syndrome
Deafness, Autosomal Dominant 22	DFNA22 Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy Autosomal Dominant Nonsyndromic Deafness 22 Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Autosomal Dominant Deafness 22 Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome DFNHCM Deafness, Autosomal Dominant, 22 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22 Deafness, Autosomal Dominant, Type 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
Deafness, Autosomal Recessive 28	DFNB28 Autosomal Recessive Nonsyndromic Deafness 28 Autosomal Recessive Deafness 28 Deafness, Autosomal Recessive, 28 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28 Deafness, Autosomal Recessive, Type 28
Deafness, Autosomal Dominant 17	DFNA17 Autosomal Dominant Nonsyndromic Deafness 17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 Autosomal Dominant Deafness 17 Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration Nonsyndromic Hereditary Deafness Dfna17 Deafness, Autosomal Dominant, 17 Cochleosaccular Degeneration Deafness, Autosomal Dominant, Type 17 Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
Deafness, Autosomal Recessive 42	DFNB42 Autosomal Recessive Nonsyndromic Deafness 42 Autosomal Recessive Deafness 42 Deafness, Autosomal Recessive, 42 Congenital Neurosensory Deafness Autosomal Recessive 42 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42 Deafness, Autosomal Recessive, Type 42
X-Linked Nonsyndromic Deafness	X-Linked Deafness Deafness, X-Linked
Deafness, Autosomal Recessive 1b	DFNB1B Autosomal Recessive Nonsyndromic Deafness 1b Autosomal Recessive Deafness 1b Deafness, Autosomal Recessive, 1b Deafness Digenic Gjb2/Gjb6 Deafness Neurosensory Autosomal Recessive 1 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 Nsrd1 Deafness, Autosomal Recessive, Type 1b
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Deafness, Autosomal Recessive 63	DFNB63 Autosomal Recessive Nonsyndromic Deafness 63 Autosomal Recessive Deafness 63 Deafness, Autosomal Recessive, 63 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63 Deafness, Autosomal Recessive, Type 63
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Usher Syndrome, Type Id	Usher Syndrome Type 1d USH1D Usher Syndrome, Type 1d Usher Syndrome Type Id Usher Syndrome, Type Id/F, Digenic Usher Syndrome, Type 1d/F Digenic Usher Syndrome 1d Usher'S Syndrome Type 1d Usher Syndrome 1d/F USH1DF Ush1d/F Usher'S Syndrome Type 1h Usher Syndrome 1h Usher Syndrome Type Ih Usher Syndrome, Type 1d/F
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14950	TPRN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19645	Tprn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26138	Tprn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TPRN	VGNC	VGNC:106995
Felis catus	TPRN	VGNC	VGNC:82395
Rattus norvegicus	TPRN	RGD	RGD:1562935
Mus musculus	TPRN	MGD	MGI:2139535
Others	TPRN	NCBI