COL21A1 (collagen type XXI alpha 1 chain)

2015-02-01  

Identity

HGNC
COL21A1
LOCATION
6p12.1
LOCUSID
81578
ALIAS
COLA1L,FP633
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 81578
MIM: 610002
HGNC: 17025
Ensembl: ENSG00000124749

Variants:

dbSNP: 81578
ClinVar: 81578
TCGA: ENSG00000124749
COSMIC: COL21A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124749ENST00000244728Q96P44
ENSG00000124749ENST00000244728A0A158RFW1
ENSG00000124749ENST00000370817A6PVD9
ENSG00000124749ENST00000370819Q96P44
ENSG00000124749ENST00000456983H0Y4C9
ENSG00000124749ENST00000488912H0YDH6
ENSG00000124749ENST00000535941F5GZK2

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Collagen chain trimerizationREACTOMER-HSA-8948216

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
248042152014Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line.26
309242952019Two novel genes TOX3 and COL21A1 in large extended Malay families with nonsyndromic cleft lip and/or palate.1

Citation

Dessen P

COL21A1 (collagen type XXI alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55082/col21a1