COL28A1 (collagen type XXVIII alpha 1 chain)

2014-11-01  

Identity

HGNC
COL28A1
LOCATION
7p21.3
LOCUSID
340267
ALIAS
COL28

Other Information

Locus ID:

NCBI: 340267
MIM: 609996
HGNC: 22442
Ensembl: ENSG00000215018

Variants:

dbSNP: 340267
ClinVar: 340267
TCGA: ENSG00000215018
COSMIC: COL28A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000215018ENST00000399429Q2UY09
ENSG00000215018ENST00000430711H7C3P2
ENSG00000215018ENST00000435823A0A0C4DG72
ENSG00000215018ENST00000444268A0A0C4DG66
ENSG00000215018ENST00000453441H7BZU0

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
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
N/A

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
163305432006Collagen XXVIII, a novel von Willebrand factor A domain-containing protein with many imperfections in the collagenous domain.0

Citation

Dessen P

COL28A1 (collagen type XXVIII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61991/col28a1