CEP290
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene[2]
- Chromosome
- human chromosome 12[12]
- Cytogenetic location
- 12q21.32
- Encodes
- Centrosomal protein 290, Centrosomal protein of 290 kDa[9][10]
- Expressed in
- right uterine tube, testicle, ventricular zone, bronchial epithelial cell, Achilles tendon, endothelial cell, Brodmann area 23, sural nerve, left ovary, right ovary
- Found in taxon
- Homo sapiens[11]
- Genetic association
- Joubert syndrome 5, Leber congenital amaurosis 10, Meckel syndrome 4, Bardet-Biedl syndrome 14, Joubert syndrome[13][14]
- HomoloGene ID
- 77213[3]
- Strand orientation
- reverse strand
🏷️ Also known as
en 3H11Ag
en BBS14
en centrosomal protein 290
en CEP290
en CT87
en JBTS5
en LCA10
en MKS4
en NPHP6
en POC3
en rd16
en SLSN6
🔖 Identifiers · 10
- Ensembl gene ID
- ENSG00000198707
- Ensembl transcript ID
- ENST00000604024, ENST00000309041, ENST00000397838, ENST00000547691, ENST00000547926, ENST00000550962, ENST00000552770, ENST00000552810, ENST00000673058, ENST00000671777, ENST00000671822, ENST00000672414, ENST00000672647, ENST00000676351, ENST00000675894, ENST00000675794, ENST00000675476, ENST00000674971, ENST00000675559, ENST00000676074, ENST00000676448, ENST00000676363, ENST00000675361, ENST00000676190, ENST00000674889, ENST00000676181, ENST00000675230, ENST00000675089, ENST00000675628, ENST00000674712, ENST00000675833, ENST00000675408, ENST00000676418, ENST00000676331
- Entrez Gene ID
- 80184
- Exact match
- identifiers.org
- Freebase ID
- /m/03gy72c
- HGNC ID
- 29021
- HGNC gene symbol
- CEP290
- OMIM ID
- 610142
- RefSeq RNA ID
- XM_011538766, NM_025114, XM_011538756, XM_011538757, XM_011538758, XM_011538759, XM_011538760, XM_011538761, XM_011538762, XM_011538763, XM_011538764, XM_011538765, XM_017019980, XM_017019981, XM_017019982, XM_017019983, XM_047429558, XM_047429559, XM_047429560, XM_047429561, XM_047429562, XM_047429563
- UMLS CUI
- C1824725
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Summary
CEP290 is a gene[1].