KERA (keratocan)

2014-11-01  

Identity

HGNC
KERA
LOCATION
12q21.33
LOCUSID
11081
ALIAS
CNA2,KTN,SLRR2B

Other Information

Locus ID:

NCBI: 11081
MIM: 603288
HGNC: 6309
Ensembl: ENSG00000139330

Variants:

dbSNP: 11081
ClinVar: 11081
TCGA: ENSG00000139330
COSMIC: KERA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139330ENST00000266719O60938

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with glycosaminoglycan metabolismREACTOMER-HSA-3560782
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)REACTOMER-HSA-3656244
Defective CHST6 causes MCDC1REACTOMER-HSA-3656225
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate biosynthesisREACTOMER-HSA-2022854
Keratan sulfate degradationREACTOMER-HSA-2022857
Defective ST3GAL3 causes MCT12 and EIEE15REACTOMER-HSA-3656243

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
286779122018Analysis of KERA in four families with cornea plana identifies two novel mutations.3
287998222018Corneal ectasia in a boy with homozygous KERA mutation.2
286779122018Analysis of KERA in four families with cornea plana identifies two novel mutations.3
287998222018Corneal ectasia in a boy with homozygous KERA mutation.2
259675292016A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.7
259675292016A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.7
260993422015Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.5
260993422015Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.5
238345572014Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.5
248793392014Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.3
238345572014Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.5
248793392014Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.3
203571982010Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.4
203609932010Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.6
203571982010Linkage 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