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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KERA
keratocan
Chromosome 12 Β· 12q21.33
NCBI Gene: 11081Ensembl: ENSG00000139330.6HGNC: HGNC:6309UniProt: O60938
36PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615gel phase of interstitial matrixextracellular regionGolgi lumencornea plana 2cornea planacongenital cornea planaFuchs endothelial corneal dystrophy
✦AI Summary

KERA (keratocan) is a keratan sulfate-containing proteoglycan essential for corneal stromal transparency and structural integrity. As a component of the extracellular matrix, KERA functions alongside lumican and mimecan to maintain corneal transparency during development and throughout life 1. The protein is expressed by keratocytes (corneal stromal fibroblasts) and contributes to proper collagen fibril organization within the stromal matrix 2. KERA expression is tightly regulated through conserved promoter elements involving cell-type-specific transcriptional factors 1. Mutations in KERA cause cornea plana 2, an autosomal recessive disorder characterized by corneal flattening and transparency defects. The importance of keratocyte-derived matrix components is underscored by studies showing that disruption of stromal cell signaling pathways (such as TGFΞ²R2 in keratocytes) results in reduced collagen fibril density, corneal thinning, and corneal ectasia 3, phenotypes that parallel corneal dystrophies involving KERA. Clinically, understanding KERA function is relevant for corneal transplantation approaches and regenerative medicine strategies. Recent advances in differentiating keratocytes from human pluripotent stem cells, identified by KERA expression, offer potential therapeutic applications for corneal damage and visual impairment 2.

Sources cited
1
KERA is a keratan sulfate-containing proteoglycan that plays a key role in development and maintenance of corneal transparency and is regulated by conserved promoter elements
PMID: 10899581
2
KERA (keratocan) is expressed by corneal keratocytes and serves as a marker for keratocyte differentiation from pluripotent stem cells
PMID: 40437144
3
Disruption of keratocyte signaling results in reduced collagen expression and stromal density, demonstrating the importance of stromal cell-derived matrix components for corneal structure
PMID: 37393064
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
cornea plana 2Open Targets
0.72Strong
cornea planaOpen Targets
0.46Moderate
congenital cornea planaOpen Targets
0.37Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.06Suggestive
hair colorOpen Targets
0.06Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.06Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
granular corneal dystrophy type IOpen Targets
0.05Suggestive
autosomal dominant keratitisOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
macular corneal dystrophyOpen Targets
0.05Suggestive
cervical spondylosisOpen Targets
0.05Suggestive
X-linked corneal dermoidOpen Targets
0.04Suggestive
Prata-Liberal-Goncalves syndromeOpen Targets
0.04Suggestive
Persistent pupillary membraneOpen Targets
0.04Suggestive
corneal endothelial dystrophyOpen Targets
0.04Suggestive
corneal dystrophy, Fuchs endothelial, 6Open Targets
0.04Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.04Suggestive
Cornea plana 2, autosomal recessiveUniProt
Pathogenic Variants15
NM_007035.4(KERA):c.740A>G (p.Asn247Ser)Pathogenic
Cornea plana 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 247
NM_007035.4(KERA):c.835C>T (p.Arg279Ter)Pathogenic
Cornea plana 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 279
NM_007035.4(KERA):c.347_350dup (p.Ser118fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 118
NM_007035.4(KERA):c.209C>T (p.Pro70Leu)Pathogenic
not provided|KERA-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 70
NM_007035.4(KERA):c.38_41del (p.Leu12_Phe13insTer)Likely pathogenic
Cornea plana 2
β˜…β˜†β˜†β˜†2025β†’ Residue 12
NM_007035.4(KERA):c.528C>G (p.Asn176Lys)Likely pathogenic
Cornea plana 2
β˜…β˜†β˜†β˜†2025β†’ Residue 176
NM_007035.4(KERA):c.748_757del (p.Ser250fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 250
NM_007035.4(KERA):c.809C>A (p.Ser270Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 270
NM_007035.4(KERA):c.937C>T (p.Arg313Ter)Pathogenic
Cornea plana 2
β˜…β˜†β˜†β˜†2024β†’ Residue 313
NM_007035.4(KERA):c.242A>G (p.Asn81Ser)Likely pathogenic
Cornea plana 2
β˜…β˜†β˜†β˜†2023β†’ Residue 81
NM_007035.4(KERA):c.55_56del (p.Trp19fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 19
NM_007035.4(KERA):c.320T>G (p.Ile107Arg)Pathogenic
Cornea plana 2
β˜†β˜†β˜†β˜†2016β†’ Residue 107
NM_007035.4(KERA):c.644C>A (p.Thr215Lys)Pathogenic
Cornea plana 2
β˜†β˜†β˜†β˜†2001β†’ Residue 215
NM_007035.4(KERA):c.520C>T (p.Gln174Ter)Pathogenic
Cornea plana 2
β˜†β˜†β˜†β˜†2000β†’ Residue 174
NM_007035.4(KERA):c.391A>G (p.Asn131Asp)Likely pathogenic
Cornea plana 2
β˜†β˜†β˜†β˜†β†’ Residue 131
View on ClinVar β†—
Related Genes
CXCL1Protein interaction84%PPP3CAProtein interaction82%ACANProtein interaction81%LUMProtein interaction81%CHST6Protein interaction81%OGNProtein interaction81%
Tissue Expression6 tissues
Ovary
100%
Brain
38%
Lung
25%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KERACXCL1PPP3CAACANLUMCHST6OGN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60938
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.66–1.28]
RankingsWhere KERA stands among ~20K protein-coding genes
  • #10,805of 20,598
    Most Researched36
  • #2,477of 5,498
    Most Pathogenic Variants15
  • #13,528of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedKERA
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Efficacy and safety of avacincaptad pegol in patients with geographic atrophy (GATHER2): 12-month results from a randomised, double-masked, phase 3 trial.
PMID: 37696275
Lancet Β· 2023
1.00
2
Association between oral, social, and physical frailty in community-dwelling older adults.
PMID: 32480111
Arch Gerontol Geriatr Β· 2020
0.90
3
Association between sarcopenia and oral functions in community-dwelling older adults: A cross-sectional study.
PMID: 36470807
J Cachexia Sarcopenia Muscle Β· 2023
0.80
4
Immune regulation of the ocular surface.
PMID: 35257715
Exp Eye Res Β· 2022
0.70
5
Transforming growth factor beta receptor 2 (Tgfbr2) deficiency in keratocytes results in corneal ectasia.
PMID: 37393064
Ocul Surf Β· 2023
0.60