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
340097842023Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes.2
374625242023COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.4
376467202023Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort.0
340097842023Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes.2
374625242023COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.4
376467202023Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort.0
365536262022The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements.1
365536262022The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements.1
323965282020Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population.4
333489012020Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.5
323965282020Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population.4
333489012020Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.5
305482182019Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population.7
305482182019Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population.7
301569252018The uncommon occurrence of two common inherited disorders in a single patient: a mini case series.0

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/css/favicon/favicon-16x16.png