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
205583872010Genetic variation and neuroimaging measures in Alzheimer disease.106
205583872010Genetic variation and neuroimaging measures in Alzheimer disease.106
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
179033042007Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.84
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
307471042019CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

CNTN5 (contactin 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40120/cntn5