COL12A1 (collagen type XII alpha 1 chain)

2012-11-01  

Identity

HGNC
LOCATION
6q13
LOCUSID
ALIAS
BA209D8.1,BTHLM2,COL12A1L,DJ234P15.1,EDSMYP,UCMD2
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
225733292012Collagen XII and XIV, new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure.28
194434612010The association between the COL12A1 gene and anterior cruciate ligament ruptures.26
248042152014Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line.26
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
243347692014Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.19
179605192008The COL12A1 and COL14A1 genes and Achilles tendon injuries.11
250730022015Interactions between collagen gene variants and risk of anterior cruciate ligament rupture.11
162849482006Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22).10
128904942003Shear stress-induced collagen XII expression is associated with atherogenesis.8
156090932004Collagen types XII and XIV are present in basement membrane zones during human embryonic development.7

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/col12a1