Property Summary

NCBI Gene PubMed Count 93
Grant Count 63
R01 Count 23
Funding $12,324,930.61
PubMed Score 192.36
PubTator Score 160.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (23)

Disease log2 FC p
astrocytic glioma -1.900 0.020
posterior fossa group B ependymoma -2.800 0.000
cutaneous lupus erythematosus 3.000 0.001
glioblastoma -2.500 0.000
oligodendroglioma -1.800 0.000
osteosarcoma -2.105 0.005
group 4 medulloblastoma 2.800 0.002
medulloblastoma, large-cell -1.700 0.015
non-small cell lung cancer 1.669 0.000
lung cancer 4.500 0.000
breast carcinoma 1.400 0.005
cystic fibrosis -1.300 0.000
adult high grade glioma -3.000 0.000
pilocytic astrocytoma -2.600 0.000
subependymal giant cell astrocytoma -2.282 0.034
nasopharyngeal carcinoma 1.800 0.004
non-inflammatory breast cancer 2.600 0.047
lung carcinoma 2.300 0.000
Pick disease -1.100 0.007
ductal carcinoma in situ 2.700 0.006
invasive ductal carcinoma 3.000 0.006
pituitary cancer -1.600 0.011
psoriasis 1.400 0.000

Synonym

Accession Q9UHC6 D3DWG2 Q14DG2 Q52LV1 Q5H9Q7 Q9UQ12
Symbols CDFE
NRXN4
AUTS15
CASPR2
PTHSL1

Gene

 GO Function (1)

Gene RIF (75)

PMID Text
26833134 The study of zebrafish mutants of the ASD risk gene, CNTNAP2, and its differential responses to psychoactive agents reveals the strength of this approach to identify molecular mechanisms
26721881 Structurally, CASPR2 is highly glycosylated and has an overall compact architecture. CASPR2 associates with micromolar affinity with CNTN1 but, under the same conditions, it does not interact with any of the other members of the contactin family.
26497390 CNTNAP2 is transcriptionally regulated by FOXP2.
26097074 Deletions within CNTNAP2 were found in two children with CAS but not in any of the children with SLI. These findings suggest that genetic variation within CNTNAP2 may be related to speech production deficits.
25895914 Results indicate that the CNTNAP2 gene may confer vulnerability to speech sound disorder
25621974 We find no evidence for statistically significant association of rare heterozygous mutations in any of the CNTN or CNTNAP genes, including CNTNAP2, placing marked limits on the scale of their plausible contribution to risk.
25224256 A genetic and functional characterization study of the CNTNAP2 promoter in autism spectrum disorders
25139204 A new male-specific association with aging is reported for a CNV in the CNTNAP2 gene. esv11910 ins allele was inversely associated with healthy aging in men.
25045150 Encompassing CNTNAP2 exon 3.
25041903 CNTNAP2 gene decreases the risk of alcohol addiction in female.
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AA Sequence

MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSPGYAKINKRGG      1 - 70
AGGWSPSDSDHYQWLQVDFGNRKQISAIATQGRYSSSDWVTQYRMLYSDTGRNWKPYHQDGNIWAFPGNI     71 - 140
NSDGVVRHELQHPIIARYVRIVPLDWNGEGRIGLRIEVYGCSYWADVINFDGHVVLPYRFRNKKMKTLKD    141 - 210
VIALNFKTSESEGVILHGEGQQGDYITLELKKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVV    211 - 280
IERQGRSINLTLDRSMQHFRTNGEFDYLDLDYEITFGGIPFSGKPSSSSRKNFKGCMESINYNGVNITDL    281 - 350
ARRKKLEPSNVGNLSFSCVEPYTVPVFFNATSYLEVPGRLNQDLFSVSFQFRTWNPNGLLVFSHFADNLG    351 - 420
NVEIDLTESKVGVHINITQTKMSQIDISSGSGLNDGQWHEVRFLAKENFAILTIDGDEASAVRTNSPLQV    421 - 490
KTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQVDDQLVNLYEVAQRKPGSFANVSIDMCAIIDRCVP    491 - 560
NHCEHGGKCSQTWDSFKCTCDETGYSGATCHNSIYEPSCEAYKHLGQTSNYYWIDPDGSGPLGPLKVYCN    561 - 630
MTEDKVWTIVSHDLQMQTPVVGYNPEKYSVTQLVYSASMDQISAITDSAEYCEQYVSYFCKMSRLLNTPD    631 - 700
GSPYTWWVGKANEKHYYWGGSGPGIQKCACGIERNCTDPKYYCNCDADYKQWRKDAGFLSYKDHLPVSQV    701 - 770
VVGDTDRQGSEAKLSVGPLRCQGDRNYWNAASFPNPSSYLHFSTFQGETSADISFYFKTLTPWGVFLENM    771 - 840
GKEDFIKLELKSATEVSFSFDVGNGPVEIVVRSPTPLNDDQWHRVTAERNVKQASLQVDRLPQQIRKAPT    841 - 910
EGHTRLELYSQLFVGGAGGQQGFLGCIRSLRMNGVTLDLEERAKVTSGFISGCSGHCTSYGTNCENGGKC    911 - 980
LERYHGYSCDCSNTAYDGTFCNKDVGAFFEEGMWLRYNFQAPATNARDSSSRVDNAPDQQNSHPDLAQEE    981 - 1050
IRFSFSTTKAPCILLYISSFTTDFLAVLVKPTGSLQIRYNLGGTREPYNIDVDHRNMANGQPHSVNITRH   1051 - 1120
EKTIFLKLDHYPSVSYHLPSSSDTLFNSPKSLFLGKVIETGKIDQEIHKYNTPGFTGCLSRVQFNQIAPL   1121 - 1190
KAALRQTNASAHVHIQGELVESNCGASPLTLSPMSSATDPWHLDHLDSASADFPYNPGQGQAIRNGVNRN   1191 - 1260
SAIIGGVIAVVIFTILCTLVFLIRYMFRHKGTYHTNEAKGAESAESADAAIMNNDPNFTETIDESKKEWL   1261 - 1330
I//

Text Mined References (95)

PMID Year Title
26833134 2016 Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2.
26721881 2016 Structural Characterization of the Extracellular Domain of CASPR2 and Insights into Its Association with the Novel Ligand Contactin1.
26497390 2015 Contactin?associated protein?like 2 expression in SH?SY5Y cells is upregulated by a FOXP2 mutant with a shortened poly?glutamine tract.
26097074 2015 The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment.
25895914 2015 CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population.
25621974 2015 No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
25416956 2014 A proteome-scale map of the human interactome network.
25224256 2015 Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach.
25139204 2015 A common copy number variation polymorphism in the CNTNAP2 gene: sexual dimorphism in association with healthy aging and disease.
25045150 2014 Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
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