2. Gene
  3. PJVK - pejvakin Gene

PJVK - pejvakin Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DFNB59

Gene ID: 494513 | Gene type: protein coding

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

Gasdermin: Gasdermin family (1 - 240)

  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10590 PJVK Human Pre-designed siRNA Set A / 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