CEP290 (centrosomal protein 290)

基因基本信息

基因基本信息

symbol:
CEP290
locus group:
protein-coding gene
location:
12q21.32
gene_family:
alias symbol:
KIAA0373|FLJ13615|3H11Ag|rd16|NPHP6|JBTS5|SLSN6|LCA10|MKS4|BBS14|CT87|POC3
alias name:
Joubert syndrome 5|nephrocystin-6|…
entrez id:
80184
ensembl gene id:
ENSG00000198707
ucsc gene id:
uc001tar.4
refseq accession:
NM_025114
hgnc_id:
HGNC:29021
approved reserved:
2006-02-20

基因染色体位置

基因染色体位置

12q21.32
基因染色体位置图

基因简述

基因简述

This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]

该基因编码具有推定的13卷曲螺旋域，具有同源性SMC染色体分离ATP酶的区域，六KID图案，三原肌球蛋白同源域和ATP / GTP结合位点基序A的蛋白定位于蛋白质中心体和纤毛和具有位点的N-糖基化，酪氨酸硫酸化，磷酸化，N-豆蔻酰化，和酰胺化。在这种基因突变与茹贝尔综合征和nephronophthisis和抗体的针对该蛋白的存在与几种癌症相关的关联。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

CEP290基因的碱基突变：           仅显示部分snp
rs3841421       rs45613639       rs59691324       rs77752413       rs78391352       rs111716338       rs112178328       rs114725040       rs138991901       rs142288119       rs142295832       rs145452070       rs146362418       rs148713333       rs182200948       rs183076076       rs183824253      

基因表达

基因表达

CEP290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
GAGGCAAGTATTGAAAGTCTAGAG
59
CAGTTAGGTTCAGGTCCTCAG
60
AGACTATCAGGCACAGTCTG
59
AGCCTCACTCAGTTGAAGAG
60
GATTGAAAGTCTAGAGGAAGAACG
59
AGTGGTTAATCCTGAAGTTGC
59
TGAAAGTTGACCCAGATGAC
58
TTACTTCCACCTTGGATAAGG
57
GCAAAGATTTAAGGAAATGGCC
59
TAGCAGTCAGTTCATTGTACTG
58
AGACTATCAGGCACAGTCTG
59
AGCCTCACTCAGTTGAAGAG
60
GAGGCAAGTATTGAAAGTCTAGAG
59
CAGTTAGGTTCAGGTCCTCAG
60
TTGGAACACCTGGAGTGTG
59
TAGTTTCCTGTTCCCAGGC
59
AATGAACTGGAGATGGCTC
57
TTTCCATGTCCTCCAATTCTC
58
AATGAACTGGAGATGGCTC
57
TTTCCATGTCCTCCAATTCTC
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

CEP290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

CEP290基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005634
A0A0A0MS86 (UniProtKB)
IEA
GO:0005813
A0A0A0MS86 (UniProtKB)
IEA
GO:0060271
A0A0A0MS86 (UniProtKB)
IEA
GO:0005634
F8VS29 (UniProtKB)
IEA
GO:0005813
F8VS29 (UniProtKB)
IEA
GO:0060271
F8VS29 (UniProtKB)
IEA
GO:0005634
F8W097 (UniProtKB)
IEA
GO:0005813
F8W097 (UniProtKB)
IEA
GO:0060271
F8W097 (UniProtKB)
IEA
GO:0005634
F8W0V9 (UniProtKB)
IEA
GO:0005813
F8W0V9 (UniProtKB)
IEA
GO:0060271
F8W0V9 (UniProtKB)
IEA
GO:0005634
J3KNF5 (UniProtKB)
IEA
GO:0005813
J3KNF5 (UniProtKB)
IDA
GO:0060271
J3KNF5 (UniProtKB)
IEA
GO:0000086
O15078 (UniProtKB)
TAS
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005515
O15078 (UniProtKB)
IPI
GO:0005634
O15078 (UniProtKB)
IDA
GO:0005737
O15078 (UniProtKB)
IDA
GO:0005813
O15078 (UniProtKB)
IDA
GO:0005813
O15078 (UniProtKB)
IDA
GO:0005813
O15078 (UniProtKB)
IDA
GO:0005813
O15078 (UniProtKB)
IDA
GO:0005813
O15078 (UniProtKB)
IDA
GO:0005814
O15078 (UniProtKB)
IEA
GO:0005829
O15078 (UniProtKB)
IDA
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0005829
O15078 (UniProtKB)
TAS
GO:0015031
O15078 (UniProtKB)
ISS
GO:0016020
O15078 (UniProtKB)
IDA
GO:0030902
O15078 (UniProtKB)
ISS
GO:0030916
O15078 (UniProtKB)
ISS
GO:0032391
O15078 (UniProtKB)
ISS
GO:0034451
O15078 (UniProtKB)
IDA
GO:0034451
O15078 (UniProtKB)
IDA
GO:0035869
O15078 (UniProtKB)
IDA
GO:0036038
O15078 (UniProtKB)
ISS
GO:0042384
O15078 (UniProtKB)
ISS
GO:0042462
O15078 (UniProtKB)
ISS
GO:0043234
O15078 (UniProtKB)
IDA
GO:0045893
O15078 (UniProtKB)
IDA
GO:0048793
O15078 (UniProtKB)
ISS
GO:0060271
O15078 (UniProtKB)
ISS
GO:0060271
O15078 (UniProtKB)
IDA
GO:0070201
O15078 (UniProtKB)
IMP
GO:0090316
O15078 (UniProtKB)
IMP
GO:0051011
O15078 (UniProtKB)
IDA
GO:0000930
O15078 (UniProtKB)
IDA
GO:0005813
O15078 (UniProtKB)
IDA
GO:0005634
S4R322 (UniProtKB)
IEA
GO:0005813
S4R322 (UniProtKB)
IDA
GO:0060271
S4R322 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 CEP290基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

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
JOUBERT SYNDROME 5 0.44 2 24 CLINVAR_CTD_human_MGD_UNIPROT
Bardet-Biedl Syndrome 0.364895885 8 1 BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET
SENIOR-LOKEN SYNDROME 6 0.36 1 1 CLINVAR_CTD_human_UNIPROT
LEBER CONGENITAL AMAUROSIS 10 (disorder) 0.32 0 11 CLINVAR_CTD_human_MGD
Meckel-Gruber syndrome 0.241357209 5 3 BeFree_CLINVAR_ORPHANET
MECKEL SYNDROME, TYPE 4 0.24 0 14 CLINVAR_CTD_human
Leber Congenital Amaurosis 0.127057489 26 0 BeFree_ORPHANET
Familial aplasia of the vermis 0.12434307 16 1 BeFree_CLINVAR
Renal dysplasia and retinal aplasia (disorder) 0.121085767 4 0 BeFree_ORPHANET
BARDET-BIEDL SYNDROME 14 (disorder) 0.12 0 1 CLINVAR

基因相关服务

基因相关服务

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