CNTNAP1 (contactin associated protein 1)

2014-11-01  

Identity

HGNC
CNTNAP1
LOCATION
17q21.2
LOCUSID
8506
ALIAS
CASPR,CHN3,CNTNAP,NRXN4,P190
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8506
MIM: 602346
HGNC: 8011
Ensembl: ENSG00000108797

Variants:

dbSNP: 8506
ClinVar: 8506
TCGA: ENSG00000108797
COSMIC: CNTNAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108797ENST00000264638P78357
ENSG00000108797ENST00000591662K7EMM9

Expression (GTEx)

0
50
100
150
200
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

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Cell adhesion molecules (CAMs)KEGGhsa04514
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Neurofascin interactionsREACTOMER-HSA-447043

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378621702023Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.1
378621702023Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits.1
350232902022M2-polarization-related CNTNAP1 gene might be a novel immunotherapeutic target and biomarker for clear cell renal cell carcinoma.6
351829432022CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.2
350232902022M2-polarization-related CNTNAP1 gene might be a novel immunotherapeutic target and biomarker for clear cell renal cell carcinoma.6
351829432022CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.2
331488802020Mutations of CNTNAP1 led to defects in neuronal development.3
331488802020Mutations of CNTNAP1 led to defects in neuronal development.3
307923092019A CASPR1-ATP1B3 protein interaction modulates plasma membrane localization of Na(+)/K(+)-ATPase in brain microvascular endothelial cells.9
307923092019A CASPR1-ATP1B3 protein interaction modulates plasma membrane localization of Na(+)/K(+)-ATPase in brain microvascular endothelial cells.9
295113232018Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.8
298959522018Caspr1 is a host receptor for meningitis-causing Escherichia coli.26
295113232018Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.8
298959522018Caspr1 is a host receptor for meningitis-causing Escherichia coli.26
277821052017Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.8

Citation

Dessen P

CNTNAP1 (contactin associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61963