COL18A1 (collagen type XVIII alpha 1 chain)

2003-02-01  

Identity

HGNC
COL18A1
LOCATION
21q22.3
LOCUSID
80781
ALIAS
GLCC,KNO,KNO1,KS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80781
MIM: 120328
HGNC: 2195
Ensembl: ENSG00000182871

Variants:

dbSNP: 80781
ClinVar: 80781
TCGA: ENSG00000182871
COSMIC: COL18A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182871ENST00000342220H7BXV5
ENSG00000182871ENST00000355480P39060
ENSG00000182871ENST00000359759P39060
ENSG00000182871ENST00000423214H7C457
ENSG00000182871ENST00000651438P39060

Expression (GTEx)

0
100
200
300
400
500
600
700
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
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
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
Laminin interactionsREACTOMER-HSA-3000157
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Activation of Matrix MetalloproteinasesREACTOMER-HSA-1592389
Collagen degradationREACTOMER-HSA-1442490
Integrin cell surface interactionsREACTOMER-HSA-216083
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
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
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
366235782023Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain.3
366235782023Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain.3
332387672021Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.2
332961242021Collagen type XVIII alpha 1 chain (COL18A1) variants affect the risk of anti-tuberculosis drug-induced hepatotoxicity: A prospective study.1
333418012021Elevated Endostatin Expression Is Regulated by the pIgA Immune Complex and Associated with Disease Severity of IgA Nephropathy.3
346809072021Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.3
332387672021Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.2
332961242021Collagen type XVIII alpha 1 chain (COL18A1) variants affect the risk of anti-tuberculosis drug-induced hepatotoxicity: A prospective study.1
333418012021Elevated Endostatin Expression Is Regulated by the pIgA Immune Complex and Associated with Disease Severity of IgA Nephropathy.3
346809072021Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.3
319228832020Functional Impact of Human Genetic Variants of COL18A1/Endostatin on Pulmonary Endothelium.16
321582052020Serum Endostatin Is a Novel Marker for COPD Associated with Lower Lung Function, Exacerbation and Systemic Inflammation.8
321785532020Three cases of molecularly confirmed Knobloch syndrome.5
327004292020Knobloch syndrome in a patient from Chile.1
319228832020Functional Impact of Human Genetic Variants of COL18A1/Endostatin on Pulmonary Endothelium.16

Citation

Dessen P

COL18A1 (collagen type XVIII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40123/col18a1-(collagen-type-xviii-alpha-1-chain)