CNTNAP2 (contactin associated protein 2)

2007-07-01  

Identity

HGNC
CNTNAP2
LOCATION
7q35
LOCUSID
26047
ALIAS
AUTS15,CASPR2,CDFE,NRXN4,PTHSL1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26047
MIM: 604569
HGNC: 13830
Ensembl: ENSG00000174469

Variants:

dbSNP: 26047
ClinVar: 26047
TCGA: ENSG00000174469
COSMIC: CNTNAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174469ENST00000361727Q9UHC6
ENSG00000174469ENST00000361727A0A090N7T7
ENSG00000174469ENST00000463592Q9UHC6
ENSG00000174469ENST00000625365A0A0D9SES4
ENSG00000174469ENST00000628930B7Z1Y6

Expression (GTEx)

0
5
10
15
20
25
30
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

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
rectum
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
181798932008Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.321
181798932008Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.321
181798942008A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.242
181798942008A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.242
189873632008A functional genetic link between distinct developmental language disorders.235
189873632008A functional genetic link between distinct developmental language disorders.235
165718802006Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.219
195468592010Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.189
205026792010Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.165
198961122009CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.124

Citation

Dessen P

CNTNAP2 (contactin associated protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47586/cntnap2