ACAN (aggrecan)

2014-06-01  

Identity

HGNC
ACAN
LOCATION
15q26.1
LOCUSID
176
ALIAS
AGC1,AGCAN,CSPG1,CSPGCP,MSK16,SEDK,SSOAOD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 176
MIM: 155760
HGNC: 319
Ensembl: ENSG00000157766

Variants:

dbSNP: 176
ClinVar: 176
TCGA: ENSG00000157766
COSMIC: ACAN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157766ENST00000352105P16112
ENSG00000157766ENST00000439576P16112
ENSG00000157766ENST00000558207Q6PID9
ENSG00000157766ENST00000558704H0YK70
ENSG00000157766ENST00000559004P16112
ENSG00000157766ENST00000560601H0YMF1
ENSG00000157766ENST00000561243P16112
ENSG00000157766ENST00000617301A0A087X1T7

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
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with glycosaminoglycan metabolismREACTOMER-HSA-3560782
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)REACTOMER-HSA-3656244
Defective CHST6 causes MCDC1REACTOMER-HSA-3656225
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate biosynthesisREACTOMER-HSA-2022854
Keratan sulfate degradationREACTOMER-HSA-2022857
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Defective ST3GAL3 causes MCT12 and EIEE15REACTOMER-HSA-3656243

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
cartilage
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
386132222024Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.1
386132222024Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.1
352391822023The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs.0
365978442023Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature.3
369729462023[Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene].0
372272152023Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.1
352391822023The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs.0
365978442023Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature.3
369729462023[Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene].0
372272152023Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.1
346522922022Blood and urine biomarkers in osteoarthritis - an update on cartilage associated type II collagen and aggrecan markers.14
352612002022Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.3
353382222022Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.5
346522922022Blood and urine biomarkers in osteoarthritis - an update on cartilage associated type II collagen and aggrecan markers.14
352612002022Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.3

Citation

Dessen P

ACAN (aggrecan)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53972