COL9A3 (collagen type IX alpha 3 chain)

2014-11-01 Affiliation

Identity

HGNC

COL9A3

LOCATION

20q13.33

LOCUSID

1299

ALIAS

DJ885L7.4.1,EDM3,IDD,MED

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: 1299
MIM: 120270
HGNC: 2219
Ensembl: ENSG00000092758

Variants:

dbSNP: 1299
ClinVar: 1299
TCGA: ENSG00000092758
COSMIC: COL9A3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000092758	ENST00000452372	Q4VXW1
ENSG00000092758	ENST00000649368	Q14050

Expression (GTEx)

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

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
38166944	2024	A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.	0
38166944	2024	A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.	0
35241111	2022	Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.	2
35241111	2022	Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.	2
33078831	2021	Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.	7
33633367	2021	Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.	6
33078831	2021	Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.	7
33633367	2021	Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.	6
32048053	2020	Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population.	3
32048053	2020	Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population.	3
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
30342505	2018	Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.	6
30450842	2018	Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.	14

Citation

Dessen P

COL9A3 (collagen type IX alpha 3 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62004/deep-insight-explorer/js/css/lib/bootstrap.min.css