COL23A1 (collagen type XXIII alpha 1 chain)

2010-08-01  

Identity

HGNC
COL23A1
LOCATION
5q35.3
LOCUSID
91522
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91522
MIM: 610043
HGNC: 22990
Ensembl: ENSG00000050767

Variants:

dbSNP: 91522
ClinVar: 91522
TCGA: ENSG00000050767
COSMIC: COL23A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000050767ENST00000390654Q86Y22
ENSG00000050767ENST00000407622A0A0A0MSD3
ENSG00000050767ENST00000646779A0A2R8Y887

Expression (GTEx)

0
50
100
150
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
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
Integrin cell surface interactionsREACTOMER-HSA-216083
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
176279392007Shedding of collagen XXIII is mediated by furin and depends on the plasma membrane microenvironment.19
167283902006Expression of type XXIII collagen mRNA and protein.17
126444592003Type XXIII collagen, a new transmembrane collagen identified in metastatic tumor cells.13
204479262010Collagen XXIII: a potential biomarker for the detection of primary and recurrent non-small cell lung cancer.12
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
216526992011Collagen XXIII, novel ligand for integrin alpha2beta1 in the epidermis.10
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.7
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3

Citation

Dessen P

COL23A1 (collagen type XXIII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51636/col23a1-(collagen-type-xxiii-alpha-1-chain)