COL11A2 (collagen type XI alpha 2 chain)

2007-02-01  

Identity

HGNC
COL11A2
LOCATION
6p21.32
LOCUSID
1302
ALIAS
DFNA13,DFNB53,FBCG2,HKE5,OSMEDA,OSMEDB,PARP,STL3

Other Information

Locus ID:

NCBI: 1302
MIM: 120290
HGNC: 2187
Ensembl: ENSG00000204248

Variants:

dbSNP: 1302
ClinVar: 1302
TCGA: ENSG00000204248
COSMIC: COL11A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204248ENST00000341947A0A0C4DFS1
ENSG00000204248ENST00000361917H0YIS1
ENSG00000204248ENST00000374708Q4VXY6
ENSG00000204248ENST00000395194P13942

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Collagen chain trimerizationREACTOMER-HSA-8948216

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
183093762008Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus.36
161330742006Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.31
191805182009Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.29
160339172005Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.25
166098822006A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.23
174710972007Occupational and genetic risk factors associated with intervertebral disc disease.22
184696982008Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies.22

Citation

Dessen P

COL11A2 (collagen type XI alpha 2 chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46030/col11a2