CDH23 (cadherin related 23)

基因基本信息

基因基本信息

symbol:
CDH23
locus group:
protein-coding gene
location:
10q22.1
gene_family:
Cadherin-related
alias symbol:
CDHR23
alias name:
cadherin-related family member 23
entrez id:
64072
ensembl gene id:
ENSG00000107736
ucsc gene id:
uc057twh.2
refseq accession:
NM_052836
hgnc_id:
HGNC:13733
approved reserved:
2000-10-19

基因染色体位置

基因染色体位置

10q22.1
基因染色体位置图

基因简述

基因简述

CDH23（钙黏蛋白23，Cadherin 23）是一种编码钙黏蛋白家族成员的基因，属于非经典钙黏蛋白亚家族。钙黏蛋白是一类依赖钙离子的跨膜糖蛋白，主要介导细胞间黏附，参与组织形成和信号传导。CDH23在耳蜗和内耳前庭毛细胞的静纤毛（stereocilia）中高表达，其编码的蛋白与PCDH15（原钙黏蛋白15）共同形成“尖端连接”（tip links），即连接相邻静纤毛的细丝结构。这些连接在听觉和平衡功能中起关键作用，能将机械振动（如声波）转化为电信号，通过毛细胞传递至大脑。CDH23基因突变可导致其蛋白结构或功能异常，破坏静纤毛的机械传导，引发遗传性耳聋（如USH1D型尤塞氏综合征）或非综合征型听力损失。尤塞氏综合征（Usher syndrome）是一种伴随视力减退和平衡障碍的常染色体隐性遗传病。CDH23突变还可能影响视网膜光感受器细胞的功能，加重症状。若CDH23表达降低，静纤毛的尖端连接无法正常形成，导致听觉信号传导障碍；过表达的研究较少，但可能干扰其他钙黏蛋白的平衡，影响细胞黏附。CDH23所属的钙黏蛋白家族共有100多个成员，其共性是拥有重复的细胞外钙结合结构域（EC重复域）和高度保守的胞内域，通过与连环蛋白（catenin）结合连接细胞骨架。家族成员在胚胎发育、神经组织和上皮组织中广泛参与细胞识别与排列。

This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

此基因是钙粘蛋白超家族，其基因编码的钙依赖性细胞 - 细胞粘着的糖蛋白中的一员。所编码的蛋白质被认为是参与纤毛组织和发束的形成。该基因位于含有人耳聋基因位点DFNB12和USH1D的区域。 Usher综合征1D和非综合征性常染色体隐性遗传性耳聋DFNB12受此钙粘基因的等位基因突变引起。这个基因的上调也可以与乳腺癌有关。编码不同同种型的替代剪接变体已有描述。 [由RefSeq的，2013年5月提供]

OMIM数据库中对CDH23基因的介绍     Wikipedia数据库中对CDH23基因的介绍

基因序列

基因序列

CDH23基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

CDH23基因的碱基突变：           仅显示部分snp
rs874622       rs1227058       rs1227059       rs1227060       rs1227061       rs1227062       rs1227063       rs1227064       rs1227065       rs1227066       rs1227067       rs2166631       rs2394838       rs3802712       rs3802713       rs3824773       rs6480548      

基因表达

基因表达

CDH23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Tm值
反向引物序列
反向Tm值
评分
CTGAGGACATCCCTGAAGG
59
TTGCCATGGTTACCATGGA
59
AAGGGCGACTTCTATACCT
58
CAGTGATGTAGACCTGCAC
58
CACCACTTCATCATCTCCC
57
TGGCAAAGAGATCAAAGTCG
58
AAGGGCGACTTCTATACCT
58
CACAGTGATGTAGACCACG
58
CATCTTGCAGCTGAAAGCC
59
TTGATGTCCTCCACGTACAC
59
ATGATGACCGATACCTGCG
60
GTCTGTATCAGCTTGATTGGC
60
ATGATGACCGATACCTGCG
60
GTCTGTATCAGCTTGATTGGC
60
TACTACAGGACTGTACACAAGAG
59
CATGATGTCGATGAAGCCAC
59
AGAAGGGCGACTTCTATACC
59
TGATGTAGACCTTCACGGTG
60
TGGACAAGGATGAGAATTTGG
58
AGATGATGAAGTGGTGGGAG
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

CDH23基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

CDH23基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005509
A0A087WWD9 (UniProtKB)
IEA
GO:0007156
A0A087WWD9 (UniProtKB)
IEA
GO:0007605
A0A087WWD9 (UniProtKB)
IEA
GO:0007626
A0A087WWD9 (UniProtKB)
IEA
GO:0016020
A0A087WWD9 (UniProtKB)
IEA
GO:0032420
A0A087WWD9 (UniProtKB)
IEA
GO:0060122
A0A087WWD9 (UniProtKB)
IEA
GO:0005509
A0A087WYR8 (UniProtKB)
IEA
GO:0005886
A0A087WYR8 (UniProtKB)
IEA
GO:0007156
A0A087WYR8 (UniProtKB)
IEA
GO:0007605
A0A087WYR8 (UniProtKB)
IEA
GO:0007626
A0A087WYR8 (UniProtKB)
IEA
GO:0016021
A0A087WYR8 (UniProtKB)
IEA
GO:0032420
A0A087WYR8 (UniProtKB)
IEA
GO:0060122
A0A087WYR8 (UniProtKB)
IEA
GO:0005509
A0A087X097 (UniProtKB)
IEA
GO:0005886
A0A087X097 (UniProtKB)
IEA
GO:0007156
A0A087X097 (UniProtKB)
IEA
GO:0007605
A0A087X097 (UniProtKB)
IEA
GO:0007626
A0A087X097 (UniProtKB)
IEA
GO:0016021
A0A087X097 (UniProtKB)
IEA
GO:0032420
A0A087X097 (UniProtKB)
IEA
GO:0060122
A0A087X097 (UniProtKB)
IEA
GO:0005509
A0A0A0MQS6 (UniProtKB)
IEA
GO:0005886
A0A0A0MQS6 (UniProtKB)
IEA
GO:0007156
A0A0A0MQS6 (UniProtKB)
IEA
GO:0007605
A0A0A0MQS6 (UniProtKB)
IEA
GO:0007626
A0A0A0MQS6 (UniProtKB)
IEA
GO:0016021
A0A0A0MQS6 (UniProtKB)
IEA
GO:0032420
A0A0A0MQS6 (UniProtKB)
IEA
GO:0060122
A0A0A0MQS6 (UniProtKB)
IEA
GO:0005509
A0A0A0MS94 (UniProtKB)
IEA
GO:0005886
A0A0A0MS94 (UniProtKB)
IEA
GO:0007156
A0A0A0MS94 (UniProtKB)
IEA
GO:0007605
A0A0A0MS94 (UniProtKB)
IEA
GO:0007626
A0A0A0MS94 (UniProtKB)
IEA
GO:0016021
A0A0A0MS94 (UniProtKB)
IEA
GO:0032420
A0A0A0MS94 (UniProtKB)
IEA
GO:0060122
A0A0A0MS94 (UniProtKB)
IEA
GO:0005509
B1AVV0 (UniProtKB)
IEA
GO:0005886
B1AVV0 (UniProtKB)
IEA
GO:0007156
B1AVV0 (UniProtKB)
IEA
GO:0007605
B1AVV0 (UniProtKB)
IEA
GO:0007626
B1AVV0 (UniProtKB)
IEA
GO:0032420
B1AVV0 (UniProtKB)
IEA
GO:0060122
B1AVV0 (UniProtKB)
IEA
GO:0005509
G8JLI8 (UniProtKB)
IEA
GO:0005886
G8JLI8 (UniProtKB)
IEA
GO:0007156
G8JLI8 (UniProtKB)
IEA
GO:0016021
G8JLI8 (UniProtKB)
IEA
GO:0005509
Q8N5B3 (UniProtKB)
IEA
GO:0005886
Q8N5B3 (UniProtKB)
IEA
GO:0007156
Q8N5B3 (UniProtKB)
IEA
GO:0007605
Q8N5B3 (UniProtKB)
IEA
GO:0007626
Q8N5B3 (UniProtKB)
IEA
GO:0016021
Q8N5B3 (UniProtKB)
IEA
GO:0032420
Q8N5B3 (UniProtKB)
IEA
GO:0060122
Q8N5B3 (UniProtKB)
IEA
GO:0005509
Q9H251 (UniProtKB)
IEA
GO:0005515
Q9H251 (UniProtKB)
IPI
GO:0005886
Q9H251 (UniProtKB)
IEA
GO:0006816
Q9H251 (UniProtKB)
IMP
GO:0007156
Q9H251 (UniProtKB)
IEA
GO:0007601
Q9H251 (UniProtKB)
IEA
GO:0007605
Q9H251 (UniProtKB)
IMP
GO:0007605
Q9H251 (UniProtKB)
IMP
GO:0007605
Q9H251 (UniProtKB)
IMP
GO:0007626
Q9H251 (UniProtKB)
IEA
GO:0016020
Q9H251 (UniProtKB)
NAS
GO:0016021
Q9H251 (UniProtKB)
IEA
GO:0016339
Q9H251 (UniProtKB)
NAS
GO:0032420
Q9H251 (UniProtKB)
ISS
GO:0045494
Q9H251 (UniProtKB)
IMP
GO:0050896
Q9H251 (UniProtKB)
IEA
GO:0050953
Q9H251 (UniProtKB)
IMP
GO:0050957
Q9H251 (UniProtKB)
IMP
GO:0051480
Q9H251 (UniProtKB)
IMP
GO:0060122
Q9H251 (UniProtKB)
IEA
GO:0005509
R4GN22 (UniProtKB)
IEA
GO:0005886
R4GN22 (UniProtKB)
IEA
GO:0007156
R4GN22 (UniProtKB)
IEA
GO:0016021
R4GN22 (UniProtKB)
IEA
GO:0005509
R4GN92 (UniProtKB)
IEA
GO:0005886
R4GN92 (UniProtKB)
IEA
GO:0007156
R4GN92 (UniProtKB)
IEA
GO:0007605
R4GN92 (UniProtKB)
IEA
GO:0007626
R4GN92 (UniProtKB)
IEA
GO:0032420
R4GN92 (UniProtKB)
IEA
GO:0060122
R4GN92 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 CDH23基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

BioGrid

mentha

String

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

基因通路

基因通路

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
Deafness, Autosomal Recessive 12 0.44 7 9 CLINVAR_CTD_human_MGD_UNIPROT
USHER SYNDROME, TYPE ID 0.320542884 8 30 BeFree_CLINVAR_MGD_UNIPROT
Usher syndrome, type 1D 0.122171535 8 0 BeFree_CTD_human
Pneumoconiosis 0.12 1 0 CTD_human
Usher Syndrome 0.014535766 10 0 BeFree_GAD_LHGDN
hearing impairment 0.008173051 3 0 LHGDN
Hearing Loss, Mixed Conductive-Sensorineural 0.004614512 17 0 BeFree
Retinitis Pigmentosa 0.003538676 3 0 BeFree_LHGDN
Presbycusis 0.00272435 1 0 LHGDN
Tobacco Use Disorder 0.002367032 1 0 GAD

基因相关服务

基因相关服务

联系方式

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