Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

14 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

32 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

28 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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (6)
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)

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 (8)
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	16804542,17301963,17329413,17373699,17718865	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★★★★ ★★☆☆☆ 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 (23)
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	CLINGEN_DG	16804542, 17373699, 22617256, 25631766, 26166082, 26544938, 28089576, 28209736, 28964305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	16804542, 17373699, 22617256		★★★★★ ★☆☆☆☆ 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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MARVELD2	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
TMIE	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CCDC50	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","Orphanet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
KCNQ4	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CEACAM16	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

PJVK (pejvakin)

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