CNTN6 (contactin 6)

2009-11-01  

Identity

HGNC
LOCATION
3p26.3
LOCUSID
ALIAS
NB3
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
381836242024Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.0
381836242024Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.0
308361502020CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.4
308361502020CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.4
305088112018Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.4
305088112018Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.4
271667602017CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.35
286411092017Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.82
271667602017CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.35
286411092017Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.82
210796072011A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.81
210796072011A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.81
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203989082010Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.34
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

CNTN6 (contactin 6)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

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