COL9A1 (collagen type IX alpha 1 chain)

2021-06-01 Affiliation

Identity

HGNC

COL9A1

LOCATION

6q13

LOCUSID

1297

ALIAS

DJ149L1.1.2,EDM6,MED,STL4

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: 1297
MIM: 120210
HGNC: 2217
Ensembl: ENSG00000112280

Variants:

dbSNP: 1297
ClinVar: 1297
TCGA: ENSG00000112280
COSMIC: COL9A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000112280	ENST00000320755	P20849
ENSG00000112280	ENST00000357250	P20849
ENSG00000112280	ENST00000370496	P20849
ENSG00000112280	ENST00000644493	A0A2R8YG47

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
Focal adhesion	KEGG	ko04510
ECM-receptor interaction	KEGG	ko04512
Focal adhesion	KEGG	hsa04510
ECM-receptor interaction	KEGG	hsa04512
Protein digestion and absorption	KEGG	ko04974
Protein digestion and absorption	KEGG	hsa04974
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Signal Transduction	REACTOME	R-HSA-162582
Signaling by PDGF	REACTOME	R-HSA-186797
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
ECM proteoglycans	REACTOME	R-HSA-3000178
Degradation of the extracellular matrix	REACTOME	R-HSA-1474228
Collagen degradation	REACTOME	R-HSA-1442490
Integrin cell surface interactions	REACTOME	R-HSA-216083
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
NCAM1 interactions	REACTOME	R-HSA-419037
Collagen chain trimerization	REACTOME	R-HSA-8948216

Protein levels (Protein atlas)

Not detected

Low

Medium

High

cerebral cortex

cerebellum

hippocampus

caudate

retina

thyroid gland

parathyroid gland

adrenal gland

nasopharynx

bronchus

lung

oral mucosa

salivary gland

esophagus

stomach 1

stomach 2

duodenum

small intestine

colon

rectum

liver

gallbladder

pancreas

kidney

urinary bladder

testis

epididymis

seminal vesicle

prostate

vagina

ovary

fallopian tube

endometrium 1

endometrium 2

cervix, uterine

placenta

breast

heart muscle

smooth muscle

skeletal muscle

soft tissue 1

soft tissue 2

adipose tissue

cartilage

skin 1

skin 2

appendix

spleen

lymph node

tonsil

bone marrow

References

Pubmed ID	Year	Title	Citations
33372835	2021	Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus.	2
33372835	2021	Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus.	2
31732751	2020	Relationship of COL9A1 and SOX9 Genes with Genetic Susceptibility of Postmenopausal Osteoporosis.	6
31732751	2020	Relationship of COL9A1 and SOX9 Genes with Genetic Susceptibility of Postmenopausal Osteoporosis.	6
30657779	2019	Variants in FAT1 and COL9A1 genes in male population with or without substance use to assess the risk factors for oral malignancy.	3
31090205	2019	Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.	20
31315069	2019	Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.	1
30657779	2019	Variants in FAT1 and COL9A1 genes in male population with or without substance use to assess the risk factors for oral malignancy.	3
31090205	2019	Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.	20
31315069	2019	Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.	1
30577800	2018	Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population.	7
30577800	2018	Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population.	7
27819742	2016	Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population.	5
27819742	2016	Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population.	5
25774918	2015	COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.	9

Citation

Dessen P

COL9A1 (collagen type IX alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58350/css/lib/css/haematological-explorer/