Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	286262
Gene name Gene Name - the full gene name approved by the HGNC.	Taperin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TPRN
Synonyms (NCBI Gene) Gene synonyms aliases	C9orf75, DFNB79
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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

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

Protein

UniProt ID

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
PF13916	Phostensin_N	8 → 87	PP1-regulatory protein, Phostensin N-terminal	Domain
PF13914	Phostensin	467 → 598	Phostensin PP1-binding and SH3-binding region	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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 79	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs1187168418, rs1564386891	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs267607135	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
hearing impairment	Hearing impairment	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Deafness	Associate	23340767
Hearing Loss	Associate	23340767, 34360009
Nonsyndromic Deafness	Associate	19603065

TPRN (taperin)