COL9A3 (collagen type IX alpha 3 chain)

2014-11-01  

Identity

HGNC
COL9A3
LOCATION
20q13.33
LOCUSID
1299
ALIAS
DJ885L7.4.1,EDM3,IDD,MED
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1299
MIM: 120270
HGNC: 2219
Ensembl: ENSG00000092758

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092758ENST00000452372Q4VXW1
ENSG00000092758ENST00000649368Q14050

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
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Signaling by PDGFREACTOMER-HSA-186797
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
ECM proteoglycansREACTOMER-HSA-3000178
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
Integrin cell surface interactionsREACTOMER-HSA-216083
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Collagen chain trimerizationREACTOMER-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 IDYearTitleCitations
381669442024A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.0
381669442024A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.0
352411112022Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.2
352411112022Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.2
330788312021Whole 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
336333672021Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.6
330788312021Whole 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
336333672021Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.6
320480532020Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population.3
320480532020Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population.3
310902052019Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.20
310902052019Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.20
295065782018Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.4
303425052018Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.6
304508422018Autosomal 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/tumors-explorer/gene-explorer/js/lib/zoomerang.js