Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	286262
Gene name	Taperin
Gene symbol	TPRN
Synonyms (NCBI Gene)	C9orf75DFNB79
Chromosome	9
Chromosome location	9q34.3
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. [pr

10 Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72763296	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267607135	C>T	Pathogenic	Stop gained, coding sequence variant
rs387906219	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906220	->AGCCGCGCCCC	Pathogenic	Frameshift variant, coding sequence variant
rs387906221	CCCGCCGCGCC>-,CCCGCCGCGCCCCCGCCGCGCC	Pathogenic	Frameshift variant, coding sequence variant
rs387906222	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1161092674	CCGAGCCCGGCCGCCCCAGGGCGGCC>-	Likely-pathogenic	Initiator codon variant, frameshift variant
rs1187168418	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1341134360	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564386891	C>T	Pathogenic	Stop gained, coding sequence variant

53 Show/Hide all (53)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049039	hsa-miR-92a-3p	CLASH	23622248
MIRT039802	hsa-miR-615-3p	CLASH	23622248
MIRT1450358	hsa-miR-1825	CLIP-seq
MIRT1450359	hsa-miR-1827	CLIP-seq
MIRT1450360	hsa-miR-198	CLIP-seq
MIRT1450361	hsa-miR-199a-5p	CLIP-seq
MIRT1450362	hsa-miR-199b-5p	CLIP-seq
MIRT1450363	hsa-miR-298	CLIP-seq
MIRT1450364	hsa-miR-3130-3p	CLIP-seq
MIRT1450365	hsa-miR-3943	CLIP-seq
MIRT1450366	hsa-miR-4257	CLIP-seq
MIRT1450367	hsa-miR-4312	CLIP-seq
MIRT1450368	hsa-miR-4313	CLIP-seq
MIRT1450369	hsa-miR-4461	CLIP-seq
MIRT1450370	hsa-miR-4793-3p	CLIP-seq
MIRT1450371	hsa-miR-512-3p	CLIP-seq
MIRT1450372	hsa-miR-627	CLIP-seq
MIRT1450373	hsa-miR-940	CLIP-seq
MIRT2134622	hsa-miR-133a	CLIP-seq
MIRT2134623	hsa-miR-133b	CLIP-seq
MIRT1450359	hsa-miR-1827	CLIP-seq
MIRT2134624	hsa-miR-2682	CLIP-seq
MIRT2134625	hsa-miR-331-3p	CLIP-seq
MIRT2134626	hsa-miR-34a	CLIP-seq
MIRT2134627	hsa-miR-34c-5p	CLIP-seq
MIRT1450366	hsa-miR-4257	CLIP-seq
MIRT2134628	hsa-miR-4435	CLIP-seq
MIRT2134629	hsa-miR-4436a	CLIP-seq
MIRT1450369	hsa-miR-4461	CLIP-seq
MIRT2134630	hsa-miR-449a	CLIP-seq
MIRT2134631	hsa-miR-449b	CLIP-seq
MIRT2134632	hsa-miR-449c	CLIP-seq
MIRT2134633	hsa-miR-4514	CLIP-seq
MIRT2134634	hsa-miR-4692	CLIP-seq
MIRT2134635	hsa-miR-4700-3p	CLIP-seq
MIRT1450371	hsa-miR-512-3p	CLIP-seq
MIRT1450372	hsa-miR-627	CLIP-seq
MIRT2134636	hsa-miR-764	CLIP-seq
MIRT1450373	hsa-miR-940	CLIP-seq
MIRT2355956	hsa-miR-1207-5p	CLIP-seq
MIRT1450359	hsa-miR-1827	CLIP-seq
MIRT2355957	hsa-miR-299-3p	CLIP-seq
MIRT2355958	hsa-miR-3616-3p	CLIP-seq
MIRT2355959	hsa-miR-4253	CLIP-seq
MIRT1450366	hsa-miR-4257	CLIP-seq
MIRT2355960	hsa-miR-4761-3p	CLIP-seq
MIRT2355961	hsa-miR-4763-3p	CLIP-seq
MIRT1450372	hsa-miR-627	CLIP-seq
MIRT1450373	hsa-miR-940	CLIP-seq
MIRT2396264	hsa-miR-2114	CLIP-seq
MIRT2396265	hsa-miR-4292	CLIP-seq
MIRT2396266	hsa-miR-4308	CLIP-seq
MIRT2396267	hsa-miR-4794	CLIP-seq

30 Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0004864	Function	Protein phosphatase inhibitor activity	IEA
GO:0004865	Function	Protein serine/threonine phosphatase inhibitor activity	IDA	23213405
GO:0005515	Function	Protein binding	IPI	22321011, 23213405, 24285636, 28330616, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	23213405
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IDA	23213405
GO:0005737	Component	Cytoplasm	IEA
GO:0005902	Component	Microvillus	IEA
GO:0005902	Component	Microvillus	ISS
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	20170898, 20170899
GO:0007605	Process	Sensory perception of sound	ISS
GO:0008157	Function	Protein phosphatase 1 binding	IPI	23213405
GO:0019902	Function	Phosphatase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IBA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0120044	Component	Stereocilium base	IBA
GO:0120044	Component	Stereocilium base	IEA
GO:0120044	Component	Stereocilium base	ISS
GO:0120045	Process	Stereocilium maintenance	IBA
GO:0120045	Process	Stereocilium maintenance	IEA
GO:0120045	Process	Stereocilium maintenance	ISS

MIM	HGNC	e!Ensembl
613354	26894	ENSG00000176058

Q4KMQ1

Protein name

Taperin

Protein function

Essential for hearing (By similarity). Required for maintenance of stereocilia on both inner and outer hair cells (By similarity). Necessary for the integrity of the stereociliary rootlet (By similarity). May act as an actin cytoskeleton regulat

PDB

6Y9Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13914	Phostensin	467 → 598	Phostensin PP1-binding and SH3-binding region	Domain
PF13916	Phostensin_N	8 → 87	PP1-regulatory protein, Phostensin N-terminal	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression is detected in fetal cochlea. {ECO:0000269|PubMed:20170898}.

Sequence

MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEPEQRVLAESLGPLRENP
FMLLEAERRRGGGAAGARLLERYRRVPGVRALRADSVLIIETVPGFPPAPPAPGAAQIRA
AEVLVYGAPPGRVSRLLERFDPPAAPRRRGSPERARPPPPPPPPAPPRPPPAAPSPPAAP
GPRGGGASPGARRSDFLQKTGSNSFTVHPRGLHRGAGARLLSNGHSAPEPRAGPANRLAG
SPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPPASATPSQRQCVSAATSTNDSFEIR
PAPKPVMETIPLGDLQARALASLRANSRNSFMVIPKSKASGAPPPEGRQSVELPKGDLGP
ASPSQELGSQPVPGGDGAPALGKSPLEVEAQWAVEEGACPRTATALADRAIRWQRPSSPP
PFLPAASEEAEPAEGLRVPGLAKNSREYVRPGLPVTFIDEVDSEEAPQAAKLPYLPHPAR
PLHPARPGCVAELQPRGSNTFTVVPKRKPGTLQDQHFSQANREPRPREAEEEEASCLLGP
TLKKRYPTVHEIEVIGGYLALQKSCLTKAGSSRKKMKISFNDKSLQTTFEYPSESSLEQE
EEVDQQEEEEEEEEEEEEEEEGSGSEEKPFALFLPRATFVSSVRPESSRLPEGSSGLSSY
TPKHSVAFSKWQEQALEQAPREAEPPPVEAMLTPASQNDLSDFRSEPALYF

Sequence length

711

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 79	Likely pathogenic; Pathogenic	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs765756665, rs2538729239, rs1187168418, rs1564386891	RCV000000157 RCV000000158 RCV000000159 RCV000000160 RCV000000161 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs387906221	RCV001814560	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs267607135	RCV001291490	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs1011757302, rs387906221, rs975049556, rs1834782818, rs2538732484	RCV004017861 RCV004017216 RCV004018174 RCV004018207 RCV004018208	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TPRN-related disorder	Pathogenic	rs387906221	RCV004754227	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (10)
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	37069358	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 79	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	20170898,20170899	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	23340767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 79	Deafness	GENOMICS_ENGLAND_DG	20170899		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 79	Deafness	BEFREE	30159668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 79	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 79	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	23340767, 34360009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	19603065, 20170898, 20170899, 30159668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	20170898, 20170899, 23340767, 24285636, 26226137, 27693694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
LHFPL5	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Congenital ear anomaly","Deafness","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","GWAS catalog (Nonsyndromic intellectual disability)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
SYNE4	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","GWAS catalog (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinGen (nonsyndromic genetic hearing loss)"]
SLC26A5	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","CTD (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CABP2	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
ELMOD3	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Nonsyndromic intellectual disability","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic intellectual disability)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

TPRN (taperin)

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