COL9A2 (collagen type IX alpha 2 chain)

2003-05-01 Affiliation

Identity

HGNC

COL9A2

LOCATION

1p34.2

LOCUSID

1298

ALIAS

DJ39G22.4,EDM2,MED,STL5

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: 1298
MIM: 120260
HGNC: 2218
Ensembl: ENSG00000049089

Variants:

dbSNP: 1298
ClinVar: 1298
TCGA: ENSG00000049089
COSMIC: COL9A2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000049089	ENST00000372736	B1AKJ3
ENSG00000049089	ENST00000372748	Q14055
ENSG00000049089	ENST00000417105	H0Y409
ENSG00000049089	ENST00000642679	A0A2R8YFT7

Expression (GTEx)

100

150

200

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

eye

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
32419506	2021	Lack of association between COL1A1 and COL9A2 single nucleotide polymorphisms and intervertebral disc degeneration.	4
33356723	2021	Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.	5
32419506	2021	Lack of association between COL1A1 and COL9A2 single nucleotide polymorphisms and intervertebral disc degeneration.	4
33356723	2021	Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.	5
31090205	2019	Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.	20
31090205	2019	Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.	20
29506578	2018	Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.	4
30288688	2018	Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population.	6
29506578	2018	Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.	4
30288688	2018	Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population.	6
28002589	2016	Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population.	3
28002589	2016	Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population.	3
24636772	2014	The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease.	21
24711017	2014	[Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia].	1
24983932	2014	Meta-analysis of the association between COL9A2 genetic polymorphisms and lumbar disc disease susceptibility.	8

Citation

Dessen P

COL9A2 (collagen type IX alpha 2 chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40129/haematological-explorer/gene-explorer/hgnc