PJVK - pejvakin Gene

Also Known as DFNB59

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 494513

About PJVK

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,451,378-178,462,102 (from NCBI)

This gene has 15 transcripts (splice variants), 199 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 5.2), ovary (RPKM 1.3) and 20 other tissues.

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 sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]

PJVK Products (6)

mRNA	Protein	Name
NM_001042702.5	NP_001036167.1	pejvakin isoform 1
NM_001353775.2	NP_001340704.1	pejvakin isoform 2
NM_001353776.2	NP_001340705.1	pejvakin isoform 3
NM_001353777.1	NP_001340706.1	pejvakin isoform 4
NM_001353778.2	NP_001340707.1	pejvakin isoform 4
NM_001369912.1	NP_001356841.1	pejvakin isoform 1

PJVK Protein Structure

Gasdermin

0
100
200
300
352 a.a.

Protein Preferred Names	Protein Names
pejvakin	autosomal recessive deafness type 59 protein

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 59	DFNB59 Autosomal Recessive Nonsyndromic Deafness 59 Autosomal Recessive Deafness 59 Deafness, Autosomal Recessive, 59 Dfnb59 Auditory Neuropathy Deafness, Autosomal Recessive, Type 59
Ear Malformation	Cup Ear
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
Rare Genetic Deafness	Rare Genetic Hearing Loss
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Auditory Neuropathy, Autosomal Dominant 1	Autosomal Dominant Auditory Neuropathy 1 AUNA1 Nsdan Auditory Neuropathy, Autosomal Dominant, 1 Auditory Neuropathy, Nonsyndromic Dominant Nonsyndromic Dominant Auditory Neuropathy Nonsyndromic Auditory Neuropathy Autosomal Dominant
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Deafness, Autosomal Recessive 93	DFNB93 Autosomal Recessive Nonsyndromic Deafness 93 Autosomal Recessive Deafness 93 Deafness, Autosomal Recessive, 93 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93 Deafness, Autosomal Recessive, Type 93
Deafness, Autosomal Recessive 27	DFNB27 Autosomal Recessive Nonsyndromic Deafness 27 Autosomal Recessive Deafness 27
Deafness, X-Linked 5, With Peripheral Neuropathy	Deafness, X-Linked 5 DFNX5 Aunx1 Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy X-Linked Deafness 5 X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1 X-Linked Hsan With Deafness X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness X-Linked Hsan With Hearing Loss X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss Deafness, X-Linked, 5, With Peripheral Neuropathy Deafness, X-Linked, Type 5
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Deafness, Autosomal Recessive 83	DFNB83 Autosomal Recessive Nonsyndromic Deafness 83 Autosomal Recessive Deafness 83
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 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
Deafness, Autosomal Recessive 24	DFNB24 Deafness, Autosomal Recessive, 24 Autosomal Recessive Nonsyndromic Deafness 24 Autosomal Recessive Deafness 24 Deafness, Autosomal Recessive, Type 24
Deafness, Autosomal Recessive 67	DFNB67 Autosomal Recessive Nonsyndromic Deafness 67 Autosomal Recessive Deafness 67 Deafness, Autosomal Recessive, 67 Deafness, Autosomal Recessive, Type 67
Deafness, Autosomal Recessive 21	DFNB21 Autosomal Recessive Nonsyndromic Deafness 21 Autosomal Recessive Deafness 21 Deafness, Autosomal Recessive, 21 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21 Deafness, Autosomal Recessive, Type 21
Deafness, Autosomal Recessive 35	DFNB35 Autosomal Recessive Nonsyndromic Deafness 35 Autosomal Recessive Deafness 35 Deafness, Autosomal Recessive, 35 Deafness, Autosomal Recessive, Type 35
Autosomal Recessive Nonsyndromic Deafness 3	Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 Dfnb3 Nrsd3 Deafness, Autosomal Recessive 3
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
Otosclerosis	Otospongiosis
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
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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10590	PJVK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PJVK	VGNC	VGNC:64192
Canis familiaris	PJVK	VGNC	VGNC:44596
Mus musculus	PJVK	MGD	MGI:2685847
Rattus norvegicus	PJVK	RGD	RGD:1587131
Bos taurus	PJVK	VGNC	VGNC:32932
Macaca mulatta	PJVK	VGNC	VGNC:104549
Others	PJVK	NCBI