PJVK - pejvakin Gene

中文名称：佩瓦金

种属: Homo sapiens

同用名: DFNB59

基因 ID: 494513 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是 gasdermin 家族的成员，该家族仅存在于脊椎动物中。编码的蛋白质是听觉通路神经元正常功能所必需的。该基因的缺陷是导致非综合征性感音神经性耳聋常染色体隐性遗传 59 型 (DFNB59) 的原因。[RefSeq 提供，2008 年 12 月]

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 基因产物(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 蛋白结构

Gasdermin

0
100
200
300
352 a.a.

蛋白主名

其他名称

pejvakin

autosomal recessive deafness type 59 protein

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10590	PJVK Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PJVK - pejvakin Gene

关于 PJVK

功能概要

PJVK 基因产物(6)

PJVK 蛋白结构

关联疾病

直系同源

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PJVK - pejvakin Gene

关于 PJVK

功能概要

PJVK 基因产物(6)

PJVK 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z