COL20A1 (collagen type XX alpha 1 chain)

2014-11-01  

Identity

HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 57642
HGNC: 14670
Ensembl: ENSG00000101203

Variants:

dbSNP: 57642
ClinVar: 57642
TCGA: ENSG00000101203
COSMIC: COL20A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101203ENST00000358894Q9P218
ENSG00000101203ENST00000415763B7ZBI4
ENSG00000101203ENST00000422202Q9P218
ENSG00000101203ENST00000455906B7ZBI5

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
299348162018Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.0

Citation

Dessen P

COL20A1 (collagen type XX alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61986/col20a1-(collagen-type-xx-alpha-1-chain)