CEP290

GENERAL INFORMATION

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Gene name

CEP290

Gene description

Centrosomal protein 290kDa

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues, often with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA043918 , CAB029995
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CEP290 (HGNC Symbol)

Synonyms

3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6

Description

Centrosomal protein 290kDa (HGNC Symbol)

Entrez gene summary

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]

Chromosome

12

Cytoband

q21.32

Chromosome location (bp)

88049014 - 88142216

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198707 (version 78.38)

Entrez gene

80184

UniProt

O15078 (UniProt - Evidence at protein level)

neXtProt

NX_O15078

Antibodypedia

CEP290 antibodies


PROTEIN BROWSER

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ENST00000309041
 
ENST00000397838
 
ENST00000547691
 
ENST00000550962
 
ENST00000552770
 
ENST00000552810
 
ENST00000604024
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CEP290-001 ENSP00000448012
ENST00000552810
O15078
Show all »
Show » Show » 2479 290.4 No 0
CEP290-003 ENSP00000473863
ENST00000604024
S4R322
Show all »
Show » Show » 857 100.1 No 0
CEP290-005 ENSP00000446905
ENST00000547691
O15078
Show all »
Show » Show » 1539 180.1 No 0
CEP290-006 ENSP00000447623
ENST00000550962
F8W097
Show all »
Show » Show » 164 19.4 No 0
CEP290-007 ENSP00000447527
ENST00000552770
F8W0V9
Show all »
Show » Show » 107 12.8 No 0
CEP290-201 ENSP00000308021
ENST00000309041
J3KNF5
Show all »
Show » Show » 2481 290.5 No 0
CEP290-202 ENSP00000380938
ENST00000397838
Show » 806 94.3 No 0