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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]
[中文简述(自动翻译):]  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]
CEP290基因(以及对应的蛋白质)的细胞分布位置:
CEP290基因的本体(GO)信息:
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 |
POLYCYSTIC KIDNEY DISEASE 1 | 0.08 | 0 | 0 | MGD |
Blind Vision | 0.012549796 | 4 | 0 | GAD_LHGDN |
Retinal Degeneration | 0.004810009 | 10 | 0 | BeFree_GAD |
Retinal Diseases | 0.004734064 | 2 | 0 | GAD |
Retinitis Pigmentosa | 0.003452799 | 4 | 0 | BeFree_GAD |
Optic Atrophy, Hereditary, Leber | 0.002909916 | 3 | 0 | BeFree_GAD |
Meckel syndrome type 1 | 0.001900093 | 7 | 0 | BeFree |
Nephronophthisis | 0.001357209 | 5 | 0 | BeFree |
Photoreceptor degeneration | 0.001357209 | 5 | 0 | BeFree |
Retinal Dystrophies | 0.001085767 | 4 | 0 | BeFree |
Unspecified visual loss | 0.000814326 | 3 | 0 | BeFree |
Tuberculosis | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Congenital blindness | 0.000271442 | 1 | 0 | BeFree |
Cyst | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
Signs and Symptoms, Respiratory | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of the kidney | 0.000271442 | 1 | 0 | BeFree |
Simple renal cyst | 0.000271442 | 1 | 0 | BeFree |
Streptococcal lymphadenitis of swine | 0.000271442 | 1 | 0 | BeFree |
Degenerative disorder | 0.000271442 | 1 | 0 | BeFree |
Central topographic island | 0.000271442 | 1 | 0 | BeFree |
Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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