CNTNAP5 (contactin associated protein family member 5)

2003-05-01 Affiliation

Identity

HGNC

CNTNAP5

LOCATION

2q14.3

LOCUSID

129684

ALIAS

caspr5

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 129684
MIM: 610519
HGNC: 18748
Ensembl: ENSG00000155052

Variants:

dbSNP: 129684
ClinVar: 129684
TCGA: ENSG00000155052
COSMIC: CNTNAP5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000155052	ENST00000431078	Q8WYK1

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19721433	2011	Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.	53
20346443	2010	Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.	52
20346443	2010	Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.	52
20451256	2010	A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample.	41
26993346	2016	Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.	28

Citation

Dessen P

CNTNAP5 (contactin associated protein family member 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/927/cntnap5