AutismKB 2.0

Evidence Details for ATP2B2


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Basic Information Top
Gene Symbol:ATP2B2 ( PMCA2,PMCA2a,PMCA2i )
Gene Full Name: ATPase, Ca++ transporting, plasma membrane 2
Band: 3p25.3
Quick LinksEntrez ID:491; OMIM: 108733; Uniprot ID:AT2B2_HUMAN; ENSEMBL ID: ENSG00000157087; HGNC ID: 815
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP2B2|491|nucleotide
ATGGGTGACATGACCAACAGCGACTTTTACTCCAAAAACCAAAGAAATGAGTCGAGCCATGGGGGCGAGTTCGGGTGCACAATGGAGGAGCTCCGCTCCCTCATG
GAGCTGCGGGGCACTGAGGCTGTGGTCAAGATCAAGGAGACTTATGGGGACACCGAAGCCATCTGCCGGCGCCTCAAAACCTCACCTGTTGAAGGTTTGCCGGGC
ACCGCTCCAGACCTGGAAAAGAGAAAGCAAATTTTTGGGCAAAACTTTATACCTCCAAAGAAGCCAAAAACCTTCCTGCAGCTCGTGTGGGAGGCGCTGCAGGAC
GTGACGCTCATCATCCTGGAGATTGCCGCCATCATCTCCCTGGGGCTGTCCTTCTACCACCCGCCCGGCGAGGGCAACGAAGGATGTGCGACGGCCCAGGGTGGG
GCAGAGGATGAAGGAGAGGCAGAGGCAGGTTGGATCGAGGGGGCCGCCATTCTCCTCTCAGTTATCTGTGTGGTCCTGGTCACGGCCTTCAATGACTGGAGCAAA
GAGAAACAGTTCCGGGGCCTGCAGAGCCGCATCGAGCAGGAACAGAAATTTACCGTGGTCCGGGCTGGCCAGGTGGTCCAGATCCCTGTGGCTGAGATCGTGGTT
GGGGACATAGCCCAGGTCAAATATGGTGACCTCCTCCCTGCCGACGGCCTCTTCATCCAGGGCAATGACCTCAAGATTGATGAAAGCTCCCTAACTGGAGAGTCT
GACCAGGTGCGCAAGTCCGTGGACAAGGACCCCATGCTGCTGTCAGGAACCCACGTGATGGAGGGCTCAGGACGGATGTTGGTGACTGCTGTGGGTGTGAACTCT
CAGACTGGCATCATCTTTACCCTCCTGGGGGCTGGTGGTGAAGAGGAAGAGAAGAAAGACAAAAAAGGTGTGAAGAAGGGGGATGGCCTTCAGCTACCAGCAGCA
GACGGTGCGGCAGCTTCAAATGCTGCAGATAGTGCGAATGCCAGCCTAGTCAATGGTAAAATGCAGGATGGCAATGTGGACGCCAGCCAGAGCAAAGCCAAACAA
CAGGACGGGGCAGCCGCCATGGAGATGCAGCCCCTCAAGAGTGCCGAGGGCGGCGACGCTGACGACAGGAAGAAGGCCAGCATGCACAAGAAGGAGAAGTCCGTG
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>ATP2B2|491|protein
MGDMTNSDFYSKNQRNESSHGGEFGCTMEELRSLMELRGTEAVVKIKETYGDTEAICRRLKTSPVEGLPGTAPDLEKRKQIFGQNFIPPKKPKTFLQLVWEALQD
VTLIILEIAAIISLGLSFYHPPGEGNEGCATAQGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVVRAGQVVQIPVAEIVV
GDIAQVKYGDLLPADGLFIQGNDLKIDESSLTGESDQVRKSVDKDPMLLSGTHVMEGSGRMLVTAVGVNSQTGIIFTLLGAGGEEEEKKDKKGVKKGDGLQLPAA
DGAAASNAADSANASLVNGKMQDGNVDASQSKAKQQDGAAAMEMQPLKSAEGGDADDRKKASMHKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFTVDT
FVVNKKPWLPECTPVYVQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQAYVGDVHYKEIP
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 1 (1) 0 (0) 1 (3) 2 (2) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 12 (9)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
MIXED/OTHERS
Anney RJL, 2017_3 replication 1369
(-)		ASD -
-		 - 137308
(-)		 -
-
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Shao, 2002 USA microsatellite-based genomic screenautism 52 - 52 - 112 - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)		 ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)		 Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)		-autism 16
(6.25%)		 0.812168 Down 0.45437
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1802223
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)		-autism 16
(6.25%)		 0.72979 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2381938
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)		-autism 6
(0.00%)		 0.724714 Down 0.0455542
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_2381938
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)		 ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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