Evidence Details for ATP2B3
Basic Information Top
| Gene Symbol: | ATP2B3 ( PMCA3,PMCA3a ) |
|---|---|
| Gene Full Name: | ATPase, Ca++ transporting, plasma membrane 3 |
| Band: | Xq28 |
| Quick Links | Entrez ID:492; OMIM: 300014; Uniprot ID:AT2B3_HUMAN; ENSEMBL ID: ENSG00000067842; HGNC ID: 816 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATP2B3|492|nucleotide
ATGGGCGACATGGCCAATAGTTCCATCGAGTTCCACCCCAAGCCCCAGCAGCAGCGGGATGTCCCCCAGGCTGGAGGCTTTGGGTGCACGCTGGCGGAGCTGCGC
ACCCTCATGGAGCTGCGAGGGGCCGAGGCGCTGCAGAAGATCGAGGAGGCCTACGGGGATGTCAGCGGGCTCTGCCGGAGGCTGAAGACCTCACCCACAGAGGGC
CTGGCGGACAACACCAATGACCTGGAGAAGCGCAGGCAGATCTACGGGCAGAACTTCATCCCCCCAAAGCAACCCAAGACCTTCCTGCAGCTGGTGTGGGAGGCC
CTGCAGGACGTGACCCTCATCATCCTGGAGGTGGCTGCCATCGTCTCTCTGGGCCTCTCGTTCTATGCGCCGCCAGGAGAGGAGAGTGAAGCCTGTGGGAATGTG
TCGGGAGGCGCAGAAGATGAGGGCGAGGCCGAAGCTGGCTGGATCGAGGGGGCTGCCATCCTGCTGTCCGTCATCTGTGTGGTGCTGGTCACGGCCTTCAATGAC
TGGAGCAAGGAGAAGCAGTTCCGAGGCCTGCAGAGCCGAATTGAGCAGGAGCAGAAGTTCACGGTCATCCGGAACGGGCAGCTCCTCCAGGTCCCCGTGGCTGCG
CTGGTGGTGGGGGACATTGCCCAGGTCAAGTACGGCGACCTGCTGCCAGCCGACGGCGTGCTCATCCAGGCCAATGACCTCAAGATCGACGAGAGCTCCCTGACG
GGCGAGTCTGACCACGTGCGCAAGTCAGCTGACAAAGATCCCATGCTGCTCTCAGGCACTCATGTCATGGAAGGTTCTGGAAGAATGGTGGTGACCGCCGTTGGC
GTGAATTCCCAGACAGGCATCATCTTCACGCTGCTTGGAGCTGGCGGAGAGGAGGAAGAGAAGAAAGATAAGAAAGGCAAGCAGCAGGATGGGGCCATGGAGAGT
AGCCAGACCAAAGCTAAGAAGCAGGATGGTGCAGTGGCCATGGAGATGCAGCCCCTGAAGAGCGCGGAGGGTGGGGAGATGGAGGAGCGGGAGAAGAAGAAAGCC
AACGCACCCAAAAAGGAGAAGTCTGTCCTTCAGGGGAAGCTCACAAAGCTAGCCGTGCAGATCGGGAAAGCAGGGCTGGTGATGTCTGCCATCACCGTCATCATC
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ATGGGCGACATGGCCAATAGTTCCATCGAGTTCCACCCCAAGCCCCAGCAGCAGCGGGATGTCCCCCAGGCTGGAGGCTTTGGGTGCACGCTGGCGGAGCTGCGC
ACCCTCATGGAGCTGCGAGGGGCCGAGGCGCTGCAGAAGATCGAGGAGGCCTACGGGGATGTCAGCGGGCTCTGCCGGAGGCTGAAGACCTCACCCACAGAGGGC
CTGGCGGACAACACCAATGACCTGGAGAAGCGCAGGCAGATCTACGGGCAGAACTTCATCCCCCCAAAGCAACCCAAGACCTTCCTGCAGCTGGTGTGGGAGGCC
CTGCAGGACGTGACCCTCATCATCCTGGAGGTGGCTGCCATCGTCTCTCTGGGCCTCTCGTTCTATGCGCCGCCAGGAGAGGAGAGTGAAGCCTGTGGGAATGTG
TCGGGAGGCGCAGAAGATGAGGGCGAGGCCGAAGCTGGCTGGATCGAGGGGGCTGCCATCCTGCTGTCCGTCATCTGTGTGGTGCTGGTCACGGCCTTCAATGAC
TGGAGCAAGGAGAAGCAGTTCCGAGGCCTGCAGAGCCGAATTGAGCAGGAGCAGAAGTTCACGGTCATCCGGAACGGGCAGCTCCTCCAGGTCCCCGTGGCTGCG
CTGGTGGTGGGGGACATTGCCCAGGTCAAGTACGGCGACCTGCTGCCAGCCGACGGCGTGCTCATCCAGGCCAATGACCTCAAGATCGACGAGAGCTCCCTGACG
GGCGAGTCTGACCACGTGCGCAAGTCAGCTGACAAAGATCCCATGCTGCTCTCAGGCACTCATGTCATGGAAGGTTCTGGAAGAATGGTGGTGACCGCCGTTGGC
GTGAATTCCCAGACAGGCATCATCTTCACGCTGCTTGGAGCTGGCGGAGAGGAGGAAGAGAAGAAAGATAAGAAAGGCAAGCAGCAGGATGGGGCCATGGAGAGT
AGCCAGACCAAAGCTAAGAAGCAGGATGGTGCAGTGGCCATGGAGATGCAGCCCCTGAAGAGCGCGGAGGGTGGGGAGATGGAGGAGCGGGAGAAGAAGAAAGCC
AACGCACCCAAAAAGGAGAAGTCTGTCCTTCAGGGGAAGCTCACAAAGCTAGCCGTGCAGATCGGGAAAGCAGGGCTGGTGATGTCTGCCATCACCGTCATCATC
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>ATP2B3|492|protein
MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEALQKIEEAYGDVSGLCRRLKTSPTEGLADNTNDLEKRRQIYGQNFIPPKQPKTFLQLVWEA
LQDVTLIILEVAAIVSLGLSFYAPPGEESEACGNVSGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRNGQLLQVPVAA
LVVGDIAQVKYGDLLPADGVLIQANDLKIDESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDKKGKQQDGAMES
SQTKAKKQDGAVAMEMQPLKSAEGGEMEEREKKKANAPKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFVIETFVVEGRTWLAECTPVYVQYFVKFFII
GVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQSYLGDTHYKEIPAPSALTPKILDLLVHAISINSAYTTK
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MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEALQKIEEAYGDVSGLCRRLKTSPTEGLADNTNDLEKRRQIYGQNFIPPKQPKTFLQLVWEA
LQDVTLIILEVAAIVSLGLSFYAPPGEESEACGNVSGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRNGQLLQVPVAA
LVVGDIAQVKYGDLLPADGVLIQANDLKIDESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDKKGKQQDGAMES
SQTKAKKQDGAVAMEMQPLKSAEGGEMEEREKKKANAPKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFVIETFVVEGRTWLAECTPVYVQYFVKFFII
GVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQSYLGDTHYKEIPAPSALTPKILDLLVHAISINSAYTTK
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Evidence summary TopClick 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 | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | |||||||||||
| Vilella, 2010_1 | Spain | - |  | | autism | - - |
- | 490 (-) |
- - | ||
Large Scale Expression Studies Top Microarray Studies: 1
| 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%) |
0.755531 | Down | 0.239001 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.