TPRN - taperin Gene

Homo sapiens

Also known as DFNB79; C9orf75

Gene ID: 286262 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	20170898	GOA

Cellular Component GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14950	TPRN Human Pre-designed siRNA Set A	Pre-designed Sets	/	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