| Type | Description |
|---|---|
| Definition | keratocan |
| Date | Results | Publications |
|---|---|---|
| 2018-06-30 11:12:00 | We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene. | 28799822 |
| 2018-02-10 10:38:00 | KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana | 28677912 |
| 2016-06-04 12:10:00 | The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease. | 25967529 |
| 2015-09-12 11:10:00 | a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form. | 26099342 |
| 2015-04-25 11:47:00 | Corneal endothelial disorders were found with compound mutations in KERA | 23834557 |
| Type | IDs |
|---|---|
| Synonymous | CNA2, KTN, SLRR2B |
| Gene |
UniProtKB-ID:
KERA_HUMAN
UniprotKB:
O60938
UniParc:
UPI000000161F
EMBL:
BC032667,
AF063301,
AF205403,
AF065988
Ensembl:
ENSG00000139330
KO:
hsa:11081
|
| Nucleutide sequences |
EMBL-CDS:
AAC17741.1,
AAH32667.1,
AAF69126.1,
AAC16390.1
Ensembl_TRS:
ENST00000266719
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000266719
RefSeq:
NP_008966.1
|
| Others |
UniRef100:
UniRef100_O60938
UniRef90:
UniRef90_O60938
UniRef50:
UniRef50_O60938
UniGene:
Hs.125750
CCDS:
CCDS9037.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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