KERA (keratocan)

2014-11-01 Affiliation

Identity

HGNC

KERA

LOCATION

12q21.33

LOCUSID

11081

ALIAS

CNA2,KTN,SLRR2B

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)

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

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of glycosylation	REACTOME	R-HSA-3781865
Diseases associated with glycosaminoglycan metabolism	REACTOME	R-HSA-3560782
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)	REACTOME	R-HSA-3656244
Defective CHST6 causes MCDC1	REACTOME	R-HSA-3656225
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glycosaminoglycan metabolism	REACTOME	R-HSA-1630316
Keratan sulfate/keratin metabolism	REACTOME	R-HSA-1638074
Keratan sulfate biosynthesis	REACTOME	R-HSA-2022854
Keratan sulfate degradation	REACTOME	R-HSA-2022857
Defective ST3GAL3 causes MCT12 and EIEE15	REACTOME	R-HSA-3656243

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18620607	2008	Fragmentation of decorin, biglycan, lumican and keratocan is elevated in degenerate human meniscus, knee and hip articular cartilages compared with age-matched macroscopically normal and control tissues.	34
19834535	2009	Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.	27
15370545	2004	A novel KERA mutation associated with autosomal recessive cornea plana.	10
17679937	2007	Study of p.N247S KERA mutation in a British family with cornea plana.	8
17011957	2006	Recessive cornea plana in the Kingdom of Saudi Arabia.	6
20360993	2010	Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.	6
16157807	2005	Clinical and molecular characterization of a family with autosomal recessive cornea plana.	5
17558846	2007	Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.	4
20357198	2010	Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.	3
23834557	2014	Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.	3

Citation

Dessen P

KERA (keratocan)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64839/kera