COL12A1 (collagen type XII alpha 1 chain)

2012-11-01  

Identity

HGNC
COL12A1
LOCATION
6q13
LOCUSID
1303
ALIAS
BA209D8.1,BTHLM2,COL12A1L,DJ234P15.1,EDSMYP,UCMD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1303
MIM: 120320
HGNC: 2188
Ensembl: ENSG00000111799

Variants:

dbSNP: 1303
ClinVar: 1303
TCGA: ENSG00000111799
COSMIC: COL12A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111799ENST00000322507Q99715
ENSG00000111799ENST00000345356Q99715
ENSG00000111799ENST00000416123Q99715
ENSG00000111799ENST00000419671H0Y4P7
ENSG00000111799ENST00000425443H0Y5N9
ENSG00000111799ENST00000483888D6RGG3
ENSG00000111799ENST00000493109H0Y991
ENSG00000111799ENST00000615798A0A087X0A8

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
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
366942302023Epigenetic dysregulation-mediated COL12A1 upregulation predicts worse outcome in intrahepatic cholangiocarcinoma patients.7
374588702023Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2.1
375061502023PABPC1 promotes cell proliferation and metastasis in pancreatic adenocarcinoma by regulating COL12A1 expression.2
366942302023Epigenetic dysregulation-mediated COL12A1 upregulation predicts worse outcome in intrahepatic cholangiocarcinoma patients.7
374588702023Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2.1
375061502023PABPC1 promotes cell proliferation and metastasis in pancreatic adenocarcinoma by regulating COL12A1 expression.2
359334662022Temporal profiling of the breast tumour microenvironment reveals collagen XII as a driver of metastasis.46
359334662022Temporal profiling of the breast tumour microenvironment reveals collagen XII as a driver of metastasis.46
330962042021Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function.27
331298492021A novel mutation in the COL12A1 gene.4
340629752021COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction.6
345175162021Bioinformatics analysis identified MMP14 and COL12A1 as immune-related biomarkers associated with pancreatic adenocarcinoma prognosis.11
330962042021Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function.27
331298492021A novel mutation in the COL12A1 gene.4
340629752021COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction.6

Citation

Dessen P

COL12A1 (collagen type XII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52983/case-report-explorer/js/template.js