COL8A1 (collagen type VIII alpha 1 chain)

2016-10-01  

Identity

HGNC
COL8A1
LOCATION
3q12.1
LOCUSID
1295
ALIAS
C3orf7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1295
MIM: 120251
HGNC: 2215
Ensembl: ENSG00000144810

Variants:

dbSNP: 1295
ClinVar: 1295
TCGA: ENSG00000144810
COSMIC: COL8A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144810ENST00000261037P27658
ENSG00000144810ENST00000273342P27658
ENSG00000144810ENST00000452013C9JTN9
ENSG00000144810ENST00000621757A0A087WZI0
ENSG00000144810ENST00000652472P27658

Expression (GTEx)

0
50
100
150
200
250
300
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
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
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
382252032024Molecular prognostic of nine parthanatos death-related genes in glioma, particularly in COL8A1 identification.1
384295342024COL8A1 Regulates Esophageal Squamous Carcinoma Proliferation and Invasion Through PI3K/AKT Pathway.0
385758922024Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.0
387191742024COL8A1 is a potential prognostic biomarker associated with migration, proliferation, and tumor microenvironment in glioma.0
382252032024Molecular prognostic of nine parthanatos death-related genes in glioma, particularly in COL8A1 identification.1
384295342024COL8A1 Regulates Esophageal Squamous Carcinoma Proliferation and Invasion Through PI3K/AKT Pathway.0
385758922024Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.0
387191742024COL8A1 is a potential prognostic biomarker associated with migration, proliferation, and tumor microenvironment in glioma.0
365772512023COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the induction of IL1B and MMP1 expression.1
365772512023COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the induction of IL1B and MMP1 expression.1
356241762022COL8A1 facilitates the growth of triple-negative breast cancer via FAK/Src activation.2
363757762022Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma.1
356241762022COL8A1 facilitates the growth of triple-negative breast cancer via FAK/Src activation.2
363757762022Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma.1
340609912021Serum Levels of ARMS2, COL8A1, RAD51B, and VEGF and their Correlations in Age-related Macular Degeneration.5

Citation

Dessen P

COL8A1 (collagen type VIII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56124/gene-fusions/js/lib/bootstrap.min.js