Property Summary

NCBI Gene PubMed Count 18
PubMed Score 12.98
PubTator Score 9.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Disease log2 FC p
Multiple myeloma 1.064 0.032
malignant mesothelioma -1.500 0.000
astrocytic glioma -1.900 0.016
posterior fossa group A ependymoma -3.600 0.000
oligodendroglioma -1.800 0.031
psoriasis -2.000 0.000
glioblastoma -3.200 0.000
osteosarcoma -1.537 0.006
medulloblastoma -2.400 0.001
atypical teratoid / rhabdoid tumor -3.400 0.000
medulloblastoma, large-cell -4.100 0.000
primitive neuroectodermal tumor -3.200 0.000
non-small cell lung cancer -1.016 0.000
pediatric high grade glioma -2.500 0.000
pilocytic astrocytoma -2.800 0.000
subependymal giant cell astrocytoma -4.458 0.004
lung carcinoma -1.600 0.000
mucosa-associated lymphoid tissue lympho... 1.439 0.029
ovarian cancer -3.100 0.000
Breast cancer -1.200 0.005

Synonym

Gene

PANTHER Protein Class (1)

Gene RIF (11)

PMID Text
24737869 Mutation screening of 187 patients with autism spectrum disorders and 36 with intellectual disability identified a missense change of maternal origin disrupting CADPS2/D2DR interaction.
22001167 This study suggested that CADPS2DeltaExon3 affects intelligence and memory in the non-clinical population.
21626674 We speculate that haploinsufficiency of CADPS2 contributes to ASDs.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20171287 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19058789 Observational study of gene-disease association. (HuGE Navigator)
19008227 CAPS proteins are involved in optimizing vesicular monoamine uptake and storage mediated by VMAT1 and VMAT2
17380209 Genetic disturbance in CADPS2-mediated neurotrophin release contributes to autism susceptibility.
17380209 CADPS2-KO mice show autistic-like phenotypes. Moreover, the results show that some autistic patients have an aberrant splicing variant of CADPS2 mRNA, suggesting that a disturbance in CADPS2-mediated neurotrophin release contributes to autism.
17380209 Results from Cadps2-deficient mice and human data suggest that a disturbance in CADPS2-mediated neurotrophin release contributes to autistic-like cellular and behavioral phenotypes.
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AA Sequence

MLDPSSSEEESDEGLEEESRDVLVAAGSSQRAPPAPTREGRRDAPGRAGGGGAARSVSPSPSVLSEGRDE      1 - 70
PQRQLDDEQERRIRLQLYVFVVRCIAYPFNAKQPTDMARRQQKLNKQQLQLLKERFQAFLNGETQIVADE     71 - 140
AFCNAVRSYYEVFLKSDRVARMVQSGGCSANDFREVFKKNIEKRVRSLPEIDGLSKETVLSSWIAKYDAI    141 - 210
YRGEEDLCKQPNRMALSAVSELILSKEQLYEMFQQILGIKKLEHQLLYNACQLDNADEQAAQIRRELDGR    211 - 280
LQLADKMAKERKFPKFIAKDMENMYIEELRSSVNLLMANLESLPVSKGGPEFKLQKLKRSQNSAFLDIGD    281 - 350
ENEIQLSKSDVVLSFTLEIVIMEVQGLKSVAPNRIVYCTMEVEGEKLQTDQAEASRPQWGTQGDFTTTHP    351 - 420
RPVVKVKLFTESTGVLALEDKELGRVILYPTSNSSKSAELHRMVVPKNSQDSDLKIKLAVRMDKPAHMKH    421 - 490
SGYLYALGQKVWKRWKKRYFVLVQVSQYTFAMCSYREKKSEPQELMQLEGYTVDYTDPHPGLQGGCMFFN    491 - 560
AVKEGDTVIFASDDEQDRILWVQAMYRATGQSYKPVPAIQTQKLNPKGGTLHADAQLSGKDADRFQKHGM    561 - 630
DEFISANPCKLDHAFLFRILQRQTLDHRLNDSYSCLGWFSPGQVFVLDEYCARYGVRGCHRHLCYLAELM    631 - 700
EHSENGAVIDPTLLHYSFAFCASHVHGNRPDGIGTVSVEEKERFEEIKERLSSLLENQISHFRYCFPFGR    701 - 770
PEGALKATLSLLERVLMKDIATPIPAEEVKKVVRKCLEKAALINYTRLTEYAKIEETMNQASPARKLEEI    771 - 840
LHLAELCIEVLQQNEEHHAEGREAFAWWPDLLAEHAEKFWALFTVDMDTALEAQPQDSWDSFPLFQLLNN    841 - 910
FLRNDTLLCNGKFHKHLQEIFVPLVVRYVDLMESSIAQSIHRGFEQETWQPVKNIANSLPNVALPKVPSL    911 - 980
PLNLPQIPNISTASWMPSLYESTNGSATSEDLFWKLDALQMFVFDLHWPEQEFAHHLEQRLKLMASDMLE    981 - 1050
ACVKRTRTAFELKLQKASKTTDLRIPASVCTMFNVLVDAKKQSTKLCALDGGQEQQYHSKIDDLIDNSVK   1051 - 1120
EIISLLVSKFVSVLEGVLSKLSRYDEGTFFSSILSFTVKAAAKYVDVPKPGMDLADTYIMFVRQNQDILR   1121 - 1190
EKVNEEMYIEKLFDQWYSSSMKVICVWLTDRLDLQLHIYQLKTLIKIVKKTYRDFRLQGVLEGTLNSKTY   1191 - 1260
DTVHRRLTVEEATASVSEGGGLQGITMKDSDEEEEG                                     1261 - 1296
//

Text Mined References (23)

PMID Year Title
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
24737869 2014 Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
22001167 2012 Blood CADPS2?Exon3 expression is associated with intelligence and memory in healthy adults.
21626674 2011 Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20171287 2010 Voxelwise genome-wide association study (vGWAS).
19058789 2009 A common variant in DRD3 receptor is associated with autism spectrum disorder.
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