COL10A1 (collagen type X alpha 1 chain)

2013-01-01 Affiliation

Identity

HGNC

COL10A1

LOCATION

6q22.1

LOCUSID

1300

ALIAS

FUSION GENES

Show Gene Fusions

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: 1300
MIM: 120110
HGNC: 2185
Ensembl: ENSG00000123500

Variants:

dbSNP: 1300
ClinVar: 1300
TCGA: ENSG00000123500
COSMIC: COL10A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000123500	ENST00000243222	Q03692
ENSG00000123500	ENST00000327673	Q03692
ENSG00000123500	ENST00000418500	Q5QPC8
ENSG00000123500	ENST00000452729	Q5QPC7
ENSG00000123500	ENST00000651968	Q03692

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
Protein digestion and absorption	KEGG	ko04974
Protein digestion and absorption	KEGG	hsa04974
Extracellular matrix organization	REACTOME	R-HSA-1474244
Collagen formation	REACTOME	R-HSA-1474290
Collagen biosynthesis and modifying enzymes	REACTOME	R-HSA-1650814
Assembly of collagen fibrils and other multimeric structures	REACTOME	R-HSA-2022090
Collagen chain trimerization	REACTOME	R-HSA-8948216

References

Pubmed ID	Year	Title	Citations
17009260	2006	Premature induction of hypertrophy during in vitro chondrogenesis of human mesenchymal stem cells correlates with calcification and vascular invasion after ectopic transplantation in SCID mice.	220
21665990	2011	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	112
18759285	2008	Correlation of COL10A1 induction during chondrogenesis of mesenchymal stem cells with demethylation of two CpG sites in the COL10A1 promoter.	39
16806867	2006	The discoidin domain receptor DDR2 is a receptor for type X collagen.	36
19180518	2009	Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.	29
11839302	2002	Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.	28
17072841	2007	Differentiation of human mesenchymal stem cells and articular chondrocytes: analysis of chondrogenic potential and expression pattern of differentiation-related transcription factors.	27
15880705	2005	Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.	24
19116917	2009	Identification of the core element responsive to runt-related transcription factor 2 in the promoter of human type X collagen gene.	24
15695517	2005	Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.	22

Citation

Dessen P

COL10A1 (collagen type X alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2013-01-01

Online version: http://atlasgeneticsoncology.org/gene/53127/col10a1