CNTN6 (contactin 6)

2009-11-01  

Identity

HGNC
CNTN6
LOCATION
3p26.3
LOCUSID
27255
ALIAS
NB3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27255
MIM: 607220
HGNC: 2176
Ensembl: ENSG00000134115

Variants:

dbSNP: 27255
ClinVar: 27255
TCGA: ENSG00000134115
COSMIC: CNTN6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134115ENST00000350110Q9UQ52
ENSG00000134115ENST00000350110A0A024R2C7
ENSG00000134115ENST00000394261F8WDQ0
ENSG00000134115ENST00000397479F8VWS7
ENSG00000134115ENST00000413210F8VWS7
ENSG00000134115ENST00000446702Q9UQ52
ENSG00000134115ENST00000446702A0A024R2C7

Expression (GTEx)

0
5
10
15
20
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
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
CHL1 interactionsREACTOMER-HSA-447041

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

References

Pubmed IDYearTitleCitations
210796072011A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
203989082010Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.32
286411092017Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.27
271667602017CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.18
195095452009Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer.11
305088112018Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.2

Citation

Dessen P

CNTN6 (contactin 6)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51231/cntn6