CNTN5 (contactin 5)

2003-05-01  

Identity

HGNC
LOCATION
11q22.1
LOCUSID
ALIAS
HNB-2s,NB-2
FUSION GENES

Other Information

Locus ID:

NCBI: 53942
MIM: 607219
HGNC: 2175
Ensembl: ENSG00000149972

Variants:

dbSNP: 53942
ClinVar: 53942
TCGA: ENSG00000149972
COSMIC: CNTN5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149972ENST00000279463A0A0A0MQX5
ENSG00000149972ENST00000418526O94779
ENSG00000149972ENST00000524871O94779
ENSG00000149972ENST00000527185O94779
ENSG00000149972ENST00000528682O94779
ENSG00000149972ENST00000619298A0A087WTT8

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
365836242023Characterization of the contactin 5 protein and its risk-associated polymorphic variant throughout the Alzheimer's disease spectrum.1
365836242023Characterization of the contactin 5 protein and its risk-associated polymorphic variant throughout the Alzheimer's disease spectrum.1
307471042019CNTN5(-)(/+)or EHMT2(-)(/+)human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.47
312891042019Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.40
307471042019CNTN5(-)(/+)or EHMT2(-)(/+)human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.47
312891042019Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.40
247071442014Association of rs1568885, rs1813443 and rs4411591 polymorphisms with anti-TNF medication response in Greek patients with Crohn's disease.9
247071442014Association of rs1568885, rs1813443 and rs4411591 polymorphisms with anti-TNF medication response in Greek patients with Crohn's disease.9
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
205583872010Genetic variation and neuroimaging measures in Alzheimer disease.0
205583872010Genetic variation and neuroimaging measures in Alzheimer disease.0
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

CNTN5 (contactin 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40120/cntn5-(contactin-5)