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 3.2e-02
malignant mesothelioma -1.500 1.0e-06
astrocytic glioma -1.900 1.6e-02
posterior fossa group A ependymoma -3.600 1.1e-13
oligodendroglioma -1.800 3.1e-02
psoriasis -2.000 2.3e-04
glioblastoma -3.200 4.9e-06
osteosarcoma -1.537 5.9e-03
medulloblastoma -2.400 1.2e-03
atypical teratoid / rhabdoid tumor -3.400 3.1e-05
medulloblastoma, large-cell -4.100 6.2e-06
primitive neuroectodermal tumor -3.200 4.3e-04
non-small cell lung cancer -1.016 6.2e-09
pediatric high grade glioma -2.500 6.8e-05
pilocytic astrocytoma -2.800 2.2e-06
subependymal giant cell astrocytoma -4.458 4.4e-03
lung carcinoma -1.600 1.6e-26
mucosa-associated lymphoid tissue lympho... 1.439 2.9e-02
ovarian cancer -3.100 2.3e-10
Breast cancer -1.200 5.0e-03

Pathway (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.
14530279 identification, cloning, and comparative characterization of a second mammalian CAPS isoform, CAPS2; concluded that at the functional level, CAPS2 is largely redundant with CAPS1

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.
19008227 2009 Ca2+-dependent activator proteins of secretion promote vesicular monoamine uptake.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17380209 2007 Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15857609 2005 Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS).
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14530279 2003 A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12659812 2003 Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10997877 2000 Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.