ACAN (aggrecan)

2014-06-01 Affiliation

Identity

HGNC

ACAN

LOCATION

15q26.1

LOCUSID

176

ALIAS

AGC1,AGCAN,CSPG1,CSPGCP,MSK16,SEDK,SSOAOD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000157766	ENST00000352105	P16112
ENSG00000157766	ENST00000439576	P16112
ENSG00000157766	ENST00000558207	Q6PID9
ENSG00000157766	ENST00000558704	H0YK70
ENSG00000157766	ENST00000559004	P16112
ENSG00000157766	ENST00000560601	H0YMF1
ENSG00000157766	ENST00000561243	P16112
ENSG00000157766	ENST00000617301	A0A087X1T7

Expression (GTEx)

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

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of glycosylation	REACTOME	R-HSA-3781865
Diseases associated with glycosaminoglycan metabolism	REACTOME	R-HSA-3560782
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)	REACTOME	R-HSA-3656244
Defective CHST6 causes MCDC1	REACTOME	R-HSA-3656225
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glycosaminoglycan metabolism	REACTOME	R-HSA-1630316
Keratan sulfate/keratin metabolism	REACTOME	R-HSA-1638074
Keratan sulfate biosynthesis	REACTOME	R-HSA-2022854
Keratan sulfate degradation	REACTOME	R-HSA-2022857
Extracellular matrix organization	REACTOME	R-HSA-1474244
ECM proteoglycans	REACTOME	R-HSA-3000178
Degradation of the extracellular matrix	REACTOME	R-HSA-1474228
Defective ST3GAL3 causes MCT12 and EIEE15	REACTOME	R-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 ID	Year	Title	Citations
18391952	2008	Genome-wide association analysis identifies 20 loci that influence adult height.	322
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
12054629	2002	ADAMTS1 cleaves aggrecan at multiple sites and is differentially inhibited by metalloproteinase inhibitors.	64
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19790048	2009	Hypoxia-inducible factor 1alpha inhibits the fibroblast-like markers type I and type III collagen during hypoxia-induced chondrocyte redifferentiation: hypoxia not only induces type II collagen and aggrecan, but it also inhibits type I and type III collagen in the hypoxia-inducible factor 1alpha-dependent redifferentiation of chondrocytes.	50
19266077	2009	Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.	48
16080123	2005	A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.	42
17588949	2007	Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan.	42
19893584	2010	Identification of 15 loci influencing height in a Korean population.	41
22297263	2012	Aggrecan: Beyond cartilage and into the brain.	41

Citation

Dessen P

ACAN (aggrecan)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

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