KERA
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KERA (HGNC:6309) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
keratocan
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CNA2
Alias symbols
SLRR2B
%HI
28.54(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.29(Read more about gnomAD LOEUF score)
Cytoband
12q21.33
Genomic Coordinates
GRCh37/hg19: chr12:91444268-91451801 NCBI Ensembl UCSC
GRCh38/hg38: chr12:91050491-91058024 NCBI Ensembl UCSC
MANE Select Transcript
NM_007035.4 ENST00000266719.4 (Read more about MANE Select)
Function
May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix. {ECO:0000305|PubMed:10802664, ECO:0000305|PubMed:11726611}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1998
ClinGen Curation ID:
CCID:007363
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)