Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11081
MIM: 603288
HGNC: 6309
Ensembl: ENSG00000139330
Variants:
dbSNP: 11081
ClinVar: 11081
TCGA: ENSG00000139330
COSMIC: KERA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139330 | ENST00000266719 | O60938 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28677912 | 2018 | Analysis of KERA in four families with cornea plana identifies two novel mutations. | 3 |
| 28799822 | 2018 | Corneal ectasia in a boy with homozygous KERA mutation. | 2 |
| 28677912 | 2018 | Analysis of KERA in four families with cornea plana identifies two novel mutations. | 3 |
| 28799822 | 2018 | Corneal ectasia in a boy with homozygous KERA mutation. | 2 |
| 25967529 | 2016 | A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma. | 7 |
| 25967529 | 2016 | A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma. | 7 |
| 26099342 | 2015 | Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. | 5 |
| 26099342 | 2015 | Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. | 5 |
| 23834557 | 2014 | Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA. | 5 |
| 24879339 | 2014 | Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis. | 3 |
| 23834557 | 2014 | Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA. | 5 |
| 24879339 | 2014 | Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis. | 3 |
| 20357198 | 2010 | Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. | 4 |
| 20360993 | 2010 | Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness. | 6 |
| 20357198 | 2010 | Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. | 4 |
Citation
Dessen P
KERA (keratocan)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64839/kera-(keratocan)
