NCAN (neurocan)

2014-11-01  

Identity

HGNC
NCAN
LOCATION
19p13.11
LOCUSID
1463
ALIAS
CSPG3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1463
MIM: 600826
HGNC: 2465
Ensembl: ENSG00000130287

Variants:

dbSNP: 1463
ClinVar: 1463
TCGA: ENSG00000130287
COSMIC: NCAN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130287ENST00000252575O14594
ENSG00000130287ENST00000252575A0A024R7M3
ENSG00000130287ENST00000588231K7EKF8

Expression (GTEx)

0
10
20
30
40
50
60
70
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 B4GALT7 causes EDS, progeroid typeREACTOMER-HSA-3560783
Defective B3GAT3 causes JDSSDHDREACTOMER-HSA-3560801
Defective CHSY1 causes TPBSREACTOMER-HSA-3595177
Defective CHST3 causes SEDCJDREACTOMER-HSA-3595172
Defective CHST14 causes EDS, musculocontractural typeREACTOMER-HSA-3595174
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
A tetrasaccharide linker sequence is required for GAG synthesisREACTOMER-HSA-1971475
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
Chondroitin sulfate biosynthesisREACTOMER-HSA-2022870
Dermatan sulfate biosynthesisREACTOMER-HSA-2022923
CS/DS degradationREACTOMER-HSA-2024101
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
L1CAM interactionsREACTOMER-HSA-373760
Defective B3GALT6 causes EDSP2 and SEMDJL1REACTOMER-HSA-4420332

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

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
249789032014TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease.108
213531942011Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder.107
191482832009Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.56
224977942012Association between schizophrenia and common variation in neurocan (NCAN), a genetic risk factor for bipolar disorder.34
229520762012Studies in humans and mice implicate neurocan in the etiology of mania.21
219971792012Brevican, neurocan, tenascin-C and versican are mainly responsible for the invasiveness of low-grade astrocytoma.18
209507962011Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.15
222086642011Sex-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels in the Mulao and Han populations.14
252202932015A genome-wide supported psychiatric risk variant in NCAN influences brain function and cognitive performance in healthy subjects.9

Citation

Dessen P

NCAN (neurocan)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70727/ncan