COL26A1 (collagen type XXVI alpha 1 chain)

2014-08-01  

Identity

HGNC
COL26A1
LOCATION
7q22.1
LOCUSID
136227
ALIAS
EMI6,EMID2,EMU2,SH2B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 136227
MIM: 608927
HGNC: 18038
Ensembl: ENSG00000160963

Variants:

dbSNP: 136227
ClinVar: 136227
TCGA: ENSG00000160963
COSMIC: COL26A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160963ENST00000313669Q96A83
ENSG00000160963ENST00000613501Q96A83

Expression (GTEx)

0
5
10
15
20
25
30
35
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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD22760553
PA448497aspirinChemicalClinicalAnnotationassociatedPD21086123
PA449015citalopramChemicalClinicalAnnotationassociatedPD22760553

References

Pubmed IDYearTitleCitations
210861232011A possible association of EMID2 polymorphisms with aspirin hypersensitivity in asthma.7
210861232011A possible association of EMID2 polymorphisms with aspirin hypersensitivity in asthma.7
222173322012Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients.1

Citation

Dessen P

COL26A1 (collagen type XXVI alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54228/col26a1