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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	494513
Gene name	Pejvakin
Gene symbol	PJVK
Synonyms (NCBI Gene)	DFNB59
Chromosome	2
Chromosome location	2q31.2
Summary	The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic senso

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111706634	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs118203988	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs118203989	C>G,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs200502817	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	5 prime UTR variant, non coding transcript variant, intron variant, missense variant, coding sequence variant
rs200507933	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs367688416	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs538027448	C>G,T	Pathogenic	Non coding transcript variant, stop gained, intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1553601319	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559365985	->T	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1559366000	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1559366084	ACCTTTTACAC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1559371613	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559372512	ACA>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion, 3 prime UTR variant
rs1559372640	G>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT691249	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT691248	hsa-miR-3974	HITS-CLIP	23313552
MIRT691247	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT691246	hsa-miR-3681-5p	HITS-CLIP	23313552
MIRT691245	hsa-miR-6849-5p	HITS-CLIP	23313552
MIRT691244	hsa-miR-4457	HITS-CLIP	23313552
MIRT691243	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT691242	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT691241	hsa-miR-6089	HITS-CLIP	23313552
MIRT691240	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT691239	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT691238	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT691237	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT691236	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT691235	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT691234	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT691233	hsa-miR-7977	HITS-CLIP	23313552
MIRT691232	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT691231	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT691230	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT691229	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT691228	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT691227	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT691226	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT691225	hsa-miR-3689c	HITS-CLIP	23313552
MIRT691224	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT691223	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT691222	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT691221	hsa-miR-3122	HITS-CLIP	23313552
MIRT691220	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT691219	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT691218	hsa-miR-6513-5p	HITS-CLIP	23313552

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence
GO:0000302	Process	Response to reactive oxygen species	IEA
GO:0000302	Process	Response to reactive oxygen species	ISS
GO:0000425	Process	Pexophagy	IEA
GO:0000425	Process	Pexophagy	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	ISS
GO:0005929	Component	Cilium	IEA
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0012501	Process	Programmed cell death	IEA
GO:0016020	Component	Membrane	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0035253	Component	Ciliary rootlet	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0097468	Process	Programmed cell death in response to reactive oxygen species	IEA
GO:0097468	Process	Programmed cell death in response to reactive oxygen species	ISS
GO:0120044	Component	Stereocilium base	IEA
GO:0120045	Process	Stereocilium maintenance	IEA
GO:1900063	Process	Regulation of peroxisome organization	IEA
GO:1900063	Process	Regulation of peroxisome organization	ISS

MIM	HGNC	e!Ensembl
610219	29502	ENSG00000204311

Q0ZLH3

Protein name

Pejvakin (Autosomal recessive deafness type 59 protein)

Protein function

Peroxisome-associated protein required to protect auditory hair cells against noise-induced damage. Acts by regulating noise-induced peroxisome proliferation in auditory hair cells and neurons, and promoting autophagic degradation of damaged per

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04598	Gasdermin	1 → 236	Gasdermin pore forming domain	Domain

Sequence

MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKD
ILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVT
KHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGE
AMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETA
TFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLL
NHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK

Sequence length

352

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)

Show/Hide Causal Diseases (6)

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 59	Pathogenic; Likely pathogenic	rs370457498, rs2154126352, rs2154126361, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs779058198, rs569088856, rs764497659, rs757539839, rs761546140 View all (4 more)	RCV001799580 RCV001799581 RCV001799583 RCV000001360 RCV000001361 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs1025933713, rs538027448, rs1559366084, rs367688416	RCV004798948 RCV000679831 RCV000679832 RCV000679833	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Pathogenic	rs111706634	RCV001813933	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs538027448, rs1559366084, rs367688416, rs1559372512	RCV001291232 RCV001291233 RCV001291234 RCV001291235	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PJVK-related disorder	Likely pathogenic; Pathogenic	rs570669186	RCV004758948	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs118203989	RCV000223480	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	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.
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ 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 59	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Auditory neuropathy	Auditory Neuropathy	BEFREE	16804542, 17301963, 21696384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	16804542, 17301963, 21696384, 21935370, 23562982, 28089576, 28209736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35321945	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35836259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	17329413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 59	Deafness	Pubtator	21935370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 9	Deafness	Pubtator	21935370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	17329413		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	27177047		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 59	Deafness	UNIPROT_DG	16804542, 22617256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 59	Deafness	GENOMICS_ENGLAND_DG	17718865		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 59	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 59	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Disorders	Headache	Pubtator	21935370, 35052489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19888295, 21935370, 22617256, 32682410, 35052489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	32682410	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	22617256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	16804542, 17373699, 22617256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	16804542, 17373699, 22617256, 25631766, 26166082, 26544938, 28089576, 28209736, 28964305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	17329413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37143720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PJVK (pejvakin)