GJB2(gap junction protein, beta 2, 26kDa)

基因基本信息

基因基本信息

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

更多...

基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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基因染色体位置

基因染色体位置

13q11-q12
基因染色体位置图

基因简述

基因简述

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

[中文简述(自动翻译):]  该基因编码的间隙连接蛋白家族的一个成员。间隙连接是第一上接触粘附细胞质膜特征在于电子显微镜区域专门结构。分别示出这些结构包括有利于离??子小区之间的转移和小分子的细胞 - 细胞通道。间隙连接蛋白，也被称为连接蛋白，来自不同组织富集间隙连接的级分进行纯化不同。根据在核苷酸和氨基酸水平的序列相似性，间隙连接蛋白被分为两类，α和β。在这个基因的突变是负责预舌，隐性耳聋的多达50％。 [由RefSeq的，2008年10月提供]

OMIM数据库中对GJB2基因的介绍     Wikipedia数据库中对GJB2基因的介绍

基因序列

基因序列

GJB2基因的碱基序列：[NCBI]

基因突变

基因突变

GJB2基因的碱基突变：           显示全部snp
rs7623       rs9237       rs1801002       rs2274083       rs2274084       rs3751385       rs4769974       rs5030700       rs7318163       rs7329857       rs7332397       rs7334120       rs7337074       rs7987144       rs7987302       rs7988691       rs7994748       rs9509085       rs9509086       rs9550621       rs9552098       rs9552099       rs9552100       rs9552101       rs9578260       rs9578261       rs9579800       rs11147592       rs11839674       rs11841182       rs28931592       rs28931595       rs34988750       rs35887622       rs55704559       rs59698754       rs72474224      
rs72561723       rs72561724       rs72561725       rs73156818       rs73431552       rs74035962       rs74035963       rs74035964       rs74035965       rs74035966       rs76434661       rs76838169       rs78674556       rs79292497       rs79998404       rs80334152       rs80338939       rs80338941       rs80338942       rs80338943       rs80338944       rs80338945       rs80338946       rs80338947       rs80338948       rs80338949       rs80338950       rs104894396       rs104894397       rs104894398       rs104894407       rs104894408       rs104894409       rs104894413       rs111033186       rs111033188       rs111033190       rs111033194       rs111033196       rs111033204       rs111033218       rs111033222       rs111033225       rs111033253       rs111033293       rs111033294       rs111033295       rs111033296       rs111033297       rs111033299       rs111033327       rs111033360       rs111033361       rs111033441       rs111033460       rs111728994       rs111729919       rs111732260       rs111935913       rs111991727       rs112399473       rs112400198       rs112457424       rs112465748       rs112875543       rs113089574       rs116769964       rs117685390       rs137932057       rs138547875       rs138841468       rs138878761       rs139277731       rs139362103       rs139514105       rs140129661       rs140408151       rs141774369       rs141853803       rs141915221       rs141929561       rs141962118       rs143343083       rs144358478       rs144642745       rs145040294       rs145113991       rs145216882       rs145255737       rs145419853       rs146302353       rs147578890       rs147595498       rs148082426       rs148136545       rs148449186       rs149137695       rs149321155       rs149900249       rs150217043       rs150477420       rs150529554       rs151141189       rs151299497       rs180788420       rs180858083       rs181435712       rs181566384       rs181728208       rs182085649       rs183396624       rs183602024       rs185790172       rs186278861       rs186316170       rs187158699       rs188027627       rs188418938       rs189158183       rs189685514       rs189792278       rs191461105       rs191541104       rs192824498       rs199790409       rs199883710       rs199976861       rs200023879       rs200104362       rs201004645       rs201839979       rs201844170       rs201848820       rs201855069       rs201895089       rs201983374       rs267603770       rs367567291       rs368602109       rs370044106       rs370696868       rs370868313       rs371024165       rs371086981       rs372197957       rs373304525       rs373468119       rs373684994       rs374572413       rs374625633       rs375122728       rs375599392       rs375759781       rs375966147       rs376898963       rs377390650       rs397516866       rs397516868       rs397516869       rs397516870       rs397516871       rs397516873       rs397516874       rs397516875       rs397516878       rs398123813       rs527450852       rs527523575       rs527821228       rs527914983       rs528010466       rs528216023       rs529440698       rs529500747       rs529647555       rs529731731       rs530484784       rs530541021       rs531165332       rs531356872       rs531576198       rs532010998       rs532137880       rs532203068       rs533231493       rs533310731       rs533583266       rs533853611       rs535023642       rs535045723       rs535635403       rs535822487       rs536433706       rs536876260       rs537242002       rs537483155       rs537641364       rs537683957       rs538318526       rs538355449       rs539517791       rs540212215       rs540815670       rs540912753       rs540934092       rs540972853       rs541058463       rs541543014       rs541831669       rs542281780       rs542318552       rs542916632       rs543307836       rs544862977       rs545187621       rs547053771       rs547195492       rs547507975       rs547859391       rs547880689       rs548230764       rs548890075       rs549337583       rs549344806       rs551625098       rs552266792       rs552784734       rs553115361       rs553467990       rs553959949       rs554330651       rs554884078       rs555209000       rs555275262       rs555335149       rs555366806       rs555881151       rs557066587       rs557786153       rs558035470       rs558121472       rs558342749       rs559171604       rs559591245       rs560410728       rs560933960       rs561264158       rs561870637       rs563151740       rs563627004       rs564084861       rs564755659       rs565297982       rs565403962       rs565621815       rs565639969       rs566754670       rs567258076       rs568612627       rs569759222       rs570231553       rs570268317       rs570552952       rs570875894       rs571030465       rs571065102       rs571146017       rs572505555       rs574392555       rs574734926       rs574815423       rs574850865       rs575475719       rs576421690       rs576671031       rs576925307       rs577361302       rs577595439       rs587783644       rs727504302       rs727504309       rs727504789       rs730880338       rs745669787       rs745748793       rs746294614       rs747353660       rs747685846       rs747847191       rs749070779       rs749693224       rs750188782       rs750216973       rs750618125       rs750795475       rs751408737       rs751509573       rs752236261       rs752236945       rs752812448       rs753674300       rs753943758       rs754202141       rs754237172       rs754409855       rs754515919       rs754533609       rs755058488       rs755661240       rs755875741       rs756467247       rs756962156       rs757029266       rs757090268       rs757226502       rs757510867       rs757699303       rs758171036       rs758452984       rs759683824       rs759745271       rs759905442       rs760489970       rs760844934       rs761376869       rs762466001       rs762566184       rs763572195       rs764693395       rs765115961       rs765172751       rs765196144       rs765921870       rs766975999       rs766998544       rs767178508       rs767233008       rs768130937       rs768338285       rs768407446       rs768756034       rs769486081       rs770116143       rs770330002       rs771053295       rs771372934       rs771409330       rs771604140       rs771748289       rs772264564       rs773528125       rs773768026       rs773846324       rs774518779       rs774573673       rs774642294       rs775828835       rs776267945       rs776335807       rs776899164       rs777236559       rs777528049       rs777588424       rs778602324       rs778922005       rs779018464       rs779358271       rs779607423       rs779948837       rs781085903       rs781210752       rs781534323       rs781767722      

基因表达

基因表达

GJB2基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向引物Tm值
反向引物序列
反向引物Tm值
rank
GAAGAGGAAGTTCATCAAGGG
58
TTTGATCTCCTCGATGTCCT
58
TTCACAGTGTTCATGATTGCAG
60
ACAATTCAGTGACATTCAGCAG
60
CACAAGCAGCATCTTCTTCC
60
GACATAGAAGACGTACATGAAGG
59
TTCACAGTGTTCATGATTGCAG
60
ACAATTCAGTGACATTCAGCAG
60
CACAAGCAGCATCTTCTTCC
60
GACATAGAAGACGTACATGAAGG
59
GAAGAGGAAGTTCATCAAGGG
58
TTTGATCTCCTCGATGTCCT
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

GJB2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

GJB2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005243
P29033(UniProtKB)
IEA
GO:0005243
P29033(UniProtKB)
IEA
GO:0005793
P29033(UniProtKB)
TAS
GO:0005886
P29033(UniProtKB)
TAS
GO:0005922
P29033(UniProtKB)
IEA
GO:0006810
P29033(UniProtKB)
TAS
GO:0007267
P29033(UniProtKB)
IEA
GO:0007605
P29033(UniProtKB)
IEA
GO:0016021
P29033(UniProtKB)
IEA
GO:0016264
P29033(UniProtKB)
TAS
GO:0016328
P29033(UniProtKB)
IEA
GO:0030539
P29033(UniProtKB)
IEA
GO:0032355
P29033(UniProtKB)
IEA
GO:0032570
P29033(UniProtKB)
IEA
GO:0034599
P29033(UniProtKB)
IEA
GO:0044752
P29033(UniProtKB)
IEA
GO:0046697
P29033(UniProtKB)
IEA
GO:0055085
P29033(UniProtKB)
IEA

基因相互作用关系

基因相互作用关系

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因相关microRNA

基因相关microRNA

可能调控GJB2基因的相关microRNA：     

基因通路图

基因通路图

基因的通路属性图
通路基因列表

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Mutilating keratoderma 0.482171535 9 2 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Knuckle pads, leuconychia and sensorineural deafness 0.480814326 4 2 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Palmoplantar Keratoderma with Deafness 0.480542884 6 3 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 0.44 12 63 CLINVAR_CTD_human_MGD_UNIPROT
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 0.360271442 2 1 BeFree_CLINVAR_CTD_human_UNIPROT
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 0.36 7 10 CLINVAR_CTD_human_UNIPROT
Sensorineural Hearing Loss (disorder) 0.344722344 172 8 BeFree_CTD_human_GAD_LHGDN_RGD
Senter syndrome 0.328414698 32 4 BeFree_CTD_human_MGD_UNIPROT
Deafness 0.213621751 120 0 CTD_human_GAD_LHGDN
hearing impairment 0.150833106 75 0 GAD_LHGDN
Palmoplantar Keratosis 0.132701686 22 10 BeFree_CTD_human_GAD_LHGDN
Keratitis 0.124885954 18 2 BeFree_CTD_human
Psoriasis 0.122909916 3 0 BeFree_CTD_human_GAD
Ichthyoses 0.120814326 4 0 BeFree_CTD_human
Porokeratotic eccrine ostial and dermal duct nevus 0.120542884 2 2 BeFree_ORPHANET
Cellulitis 0.12 1 0 CTD_human
Skin Neoplasms 0.12 1 0 CTD_human
Hidradenitis Suppurativa 0.12 1 0 CTD_human
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) 0.12 0 1 CLINVAR
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 0.12 0 1 CLINVAR
Noise-induced hearing loss 0.084734064 3 0 GAD_RGD
Cholestasis, Extrahepatic 0.08 1 0 RGD
Diabetes Mellitus, Experimental 0.08 1 0 RGD
Hearing Loss, Partial 0.08 115 0 GAD
Liver Neoplasms, Experimental 0.08 1 0 RGD
Complete Hearing Loss 0.08 34 0 GAD
Autoimmune thyroiditis 0.08 1 0 RGD
Hearing Loss 0.08 55 0 GAD
Hearing Loss, Mixed Conductive-Sensorineural 0.064603166 238 16 BeFree
Nonsyndromic Deafness 0.034321228 109 4 BeFree_GAD
Hearing problem 0.014473634 7 0 BeFree_GAD
Keratitis-Ichthyosis-Deafness Syndrome 0.012214884 45 3 BeFree
Hearing Loss, Bilateral 0.012106602 6 0 BeFree_GAD
Dermatologic disorders 0.011691864 23 4 BeFree_LHGDN
Congenital deafness 0.011129117 41 3 BeFree
Mammary Neoplasms 0.009258818 6 0 BeFree_LHGDN
Prelingual Deafness 0.00868614 32 0 BeFree
Neoplasm Metastasis 0.007348794 7 0 BeFree_LHGDN
Cytomegalovirus Infections 0.005905708 5 0 BeFree_GAD_LHGDN
Presbycusis 0.005091382 1 0 GAD_LHGDN
Stomach Neoplasms 0.005091382 1 0 GAD_LHGDN
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 0.004614512 17 1 BeFree
Ectodermal Dysplasia 0.00408156 5 0 BeFree_LHGDN
melanoma 0.00408156 5 0 BeFree_LHGDN
Liver carcinoma 0.003538676 3 0 BeFree_LHGDN
Esophageal Neoplasms 0.003267234 2 0 BeFree_LHGDN
Conductive hearing loss 0.003267234 2 1 BeFree_LHGDN
Usher Syndrome 0.003181358 3 0 BeFree_GAD
Pancreatic Neoplasm 0.002995792 2 0 BeFree_LHGDN
Endometrial Neoplasms 0.00272435 1 0 LHGDN
Head and Neck Neoplasms 0.00272435 1 0 LHGDN
Lung Neoplasms 0.00272435 1 0 LHGDN
Meningioma 0.00272435 1 0 LHGDN
Prostatic Neoplasms 0.00272435 1 0 LHGDN
ovarian neoplasm 0.00272435 1 0 LHGDN
Cholesteatoma 0.002638474 1 0 BeFree_GAD
Hearing Loss, High-Frequency 0.002638474 2 0 BeFree_GAD
Apraxias 0.002367032 1 0 GAD
Chorioamnionitis 0.002367032 1 0 GAD
Chromosome Aberrations 0.002367032 1 0 GAD
Fetal Membranes, Premature Rupture 0.002367032 1 0 GAD
Premature Obstetric Labor 0.002367032 1 0 GAD
Language Development Disorders 0.002367032 1 0 GAD
Mutism 0.002367032 1 0 GAD
Occupational Diseases 0.002367032 1 0 GAD
Pre-Eclampsia 0.002367032 1 0 GAD
Rhinitis 0.002367032 1 0 GAD
Sinusitis 0.002367032 1 0 GAD
Vestibular Diseases 0.002367032 1 0 GAD
Premature Birth 0.002367032 1 0 GAD
Malignant neoplasm of ovary 0.002367032 1 0 GAD
Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified 0.002367032 1 0 GAD
Congenital cytomegalovirus infection 0.002171535 8 0 BeFree
Recessive sensorineural hearing loss 0.001900093 7 0 BeFree
Hyperkeratosis 0.001900093 7 0 BeFree
Malignant neoplasm of breast 0.001628651 6 0 BeFree
Synovial Cyst 0.001357209 5 0 BeFree
Breast Carcinoma 0.001357209 5 0 BeFree
Myxoid cyst 0.001357209 5 0 BeFree
Congenital sensorineural hearing loss 0.001357209 5 0 BeFree
Malignant neoplasm of urinary bladder 0.001085767 4 0 BeFree
Leukemia, Lymphocytic, Acute, L1 0.001085767 4 0 BeFree
Pendred's syndrome 0.001085767 4 1 BeFree
Carcinoma of bladder 0.001085767 4 0 BeFree
Auditory neuropathy 0.001085767 4 0 BeFree
Charcot-Marie-Tooth Disease 0.000814326 3 0 BeFree
Exanthema 0.000814326 3 0 BeFree
Congenital ichthyosis 0.000814326 3 0 BeFree
Keratoderma 0.000814326 3 0 BeFree
Meleda Disease 0.000814326 3 0 BeFree
Pachyonychia Congenita 0.000814326 3 0 BeFree
Spots on skin 0.000814326 3 0 BeFree
Hearing impaired children 0.000814326 3 0 BeFree
Congenital Abnormality 0.000542884 2 0 BeFree
Squamous cell carcinoma 0.000542884 2 0 BeFree
Cystic Fibrosis 0.000542884 2 0 BeFree
Down Syndrome 0.000542884 2 0 BeFree
Keratosis 0.000542884 2 0 BeFree
Liver neoplasms 0.000542884 2 0 BeFree
Skin Manifestations 0.000542884 2 0 BeFree
Esophageal carcinoma 0.000542884 2 0 BeFree
Hidrotic Ectodermal Dysplasia 0.000542884 2 0 BeFree
Pancreatic carcinoma 0.000542884 2 0 BeFree
Malignant neoplasm of lung 0.000542884 2 0 BeFree
Congenital ear anomaly NOS (disorder) 0.000542884 2 0 BeFree
Malignant neoplasm of pancreas 0.000542884 2 0 BeFree
Malignant neoplasm of prostate 0.000542884 2 0 BeFree
Sensorineural hearing loss, bilateral 0.000542884 2 0 BeFree
Malignant neoplasm of esophagus 0.000542884 2 0 BeFree
Carcinogenesis 0.000542884 2 0 BeFree
Prostate carcinoma 0.000542884 2 0 BeFree
Carcinoma of lung 0.000542884 2 0 BeFree
Secondary malignant neoplasm of lymph node 0.000542884 2 0 BeFree
Enlarged Vestibular Aqueduct 0.000542884 2 0 BeFree
Hyperkeratosis of the palms and soles and esophageal papillomas 0.000542884 2 0 BeFree
Waardenburg Syndrome 0.000542884 2 0 BeFree
Adenoma 0.000271442 1 0 BeFree
Anaplasia 0.000271442 1 0 BeFree
Arthritis, Psoriatic 0.000271442 1 0 BeFree
Bladder Neoplasm 0.000271442 1 0 BeFree
Colorectal Carcinoma 0.000271442 1 0 BeFree
Dandy-Walker Syndrome 0.000271442 1 1 BeFree
Endometrial Hyperplasia 0.000271442 1 0 BeFree
Herpes Simplex Infections 0.000271442 1 0 BeFree
Muscular Dystrophy 0.000271442 1 0 BeFree
Obsessive-Compulsive Disorder 0.000271442 1 0 BeFree
Opportunistic Infections 0.000271442 1 0 BeFree
Osteochondritis Dissecans 0.000271442 1 0 BeFree
Familial Mediterranean Fever 0.000271442 1 0 BeFree
Precancerous Conditions 0.000271442 1 0 BeFree
Prostatic Diseases 0.000271442 1 0 BeFree
Skin Abnormalities 0.000271442 1 0 BeFree
Tay-Sachs Disease 0.000271442 1 0 BeFree
Hyperkeratosis, Epidermolytic 0.000271442 1 0 BeFree
Epidermolysis Bullosa Simplex 0.000271442 1 0 BeFree
Severe Combined Immunodeficiency 0.000271442 1 0 BeFree
Sensory Disorders 0.000271442 1 0 BeFree
Secondary malignant neoplasm of lung 0.000271442 1 0 BeFree
Mental condensation 0.000271442 1 0 BeFree
Mucolipidosis Type IV 0.000271442 1 0 BeFree
Psoriasis vulgaris 0.000271442 1 0 BeFree
ANONYCHIA 0.000271442 1 0 BeFree
Squamous cell carcinoma of esophagus 0.000271442 1 0 BeFree
Epidermolytic palmoplantar keratoderma of Vorner 0.000271442 1 0 BeFree
Hereditary peripheral neuropathy 0.000271442 1 0 BeFree
Dysequilibrium syndrome 0.000271442 1 0 BeFree
Hearing loss associated with syndrome 0.000271442 1 0 BeFree
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 0.000271442 1 0 BeFree
Eccrine nevus 0.000271442 1 0 BeFree
Associated symptom 0.000271442 1 0 BeFree
Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp 0.000271442 1 0 BeFree
Multisystem disorder 0.000271442 1 1 BeFree
Brain Tumor, Primary 0.000271442 1 0 BeFree
cancer recurrence 0.000271442 1 0 BeFree
Colorectal Cancer 0.000271442 1 0 BeFree
Channelopathies 0.000271442 1 0 BeFree
WAARDENBURG SYNDROME, TYPE IIA 0.000271442 1 0 BeFree
Gaucher Disease, Type 1 0.000271442 1 0 BeFree
Waardenburg Syndrome Type 2 0.000271442 1 0 BeFree

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