CNTNAP5 (contactin associated protein family member 5)

2003-05-01  

Identity

HGNC
CNTNAP5
LOCATION
2q14.3
LOCUSID
129684
ALIAS
caspr5

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155052ENST00000431078Q8WYK1

Expression (GTEx)

0
1
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 IDYearTitleCitations
337374992021Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma.4
337374992021Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma.4
307227982020A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder.14
323291572020Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.4
307227982020A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder.14
323291572020Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.4
269933462016Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.58
269933462016Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.58
197214332011Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.61
197214332011Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.61
203464432010Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.73
203464432010Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.73
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204512562010A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample.51
203464432010Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.73

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-(contactin-associated-protein-family-member-5)