COL20A1 (collagen type XX alpha 1 chain)

2014-11-01 Affiliation

Identity

HGNC

COL20A1

LOCATION

20q13.33

LOCUSID

57642

ALIAS

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: 57642
HGNC: 14670
Ensembl: ENSG00000101203

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000101203	ENST00000358894	Q9P218
ENSG00000101203	ENST00000415763	B7ZBI4
ENSG00000101203	ENST00000422202	Q9P218
ENSG00000101203	ENST00000455906	B7ZBI5

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
Extracellular matrix organization	REACTOME	R-HSA-1474244
Collagen formation	REACTOME	R-HSA-1474290
Collagen biosynthesis and modifying enzymes	REACTOME	R-HSA-1650814
Collagen chain trimerization	REACTOME	R-HSA-8948216

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35456962	2022	Type XX Collagen Is Elevated in Circulation of Patients with Solid Tumors.	8
35456962	2022	Type XX Collagen Is Elevated in Circulation of Patients with Solid Tumors.	8
29934816	2018	Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.	1
29934816	2018	Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.	1

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/haematological-explorer/teaching-explorer/img/logo-atlas-4.svg