Evidence Details for SLC24A2
Basic Information Top
| Gene Symbol: | SLC24A2 ( FLJ45149,NCKX2 ) |
|---|---|
| Gene Full Name: | solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 |
| Band: | 9p22.1 |
| Quick Links | Entrez ID:25769; OMIM: 609838; Uniprot ID:NCKX2_HUMAN; ENSEMBL ID: ENSG00000155886; HGNC ID: 10976 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC24A2|25769|nucleotide
ATGGATCTGCAACAAAGCACCACCATCACTTCCCTAGAGAAATGGTGTTTGGATGAGTCACTGTCTGGCTGCAGAAGACATTATAGTGTCAAGAAAAAACTGAAG
TTAATTCGAGTCTTAGGCCTTTTCATGGGTCTGGTAGCCATTAGCACTGTCTCATTTTCAATCAGTGCCTTTTCTGAGACAGATACACAGAGCACAGGAGAGGCC
AGTGTTGTAAGTGGCCCTAGGGTAGCACAGGGTTACCATCAGAGAACTCTCTTAGATTTAAATGACAAGATTCTGGATTATACTCCACAGCCACCTCTTTCTAAG
GAAGGCGAGTCTGAGAATAGTACAGATCACGCCCAAGGAGACTACCCGAAAGACATCTTTTCCCTTGAGGAGAGAAGAAAAGGTGCGATCATTCTGCATGTCATT
GGAATGATCTACATGTTCATAGCCTTAGCCATTGTCTGTGATGAGTTCTTTGTTCCTTCTTTGACTGTCATCACTGAAAAACTGGGCATCTCTGATGATGTGGCT
GGAGCCACCTTCATGGCTGCAGGAGGGTCAGCCCCAGAACTTTTCACATCTCTCATAGGGGTATTTATCGCTCACAGCAACGTTGGCATAGGCACAATTGTAGGT
TCAGCAGTATTCAACATCCTCTTTGTTATTGGCATGTGTGCTCTGTTTTCTAGAGAAATCTTAAACCTGACATGGTGGCCGCTCTTTCGAGATGTGTCTTTCTAC
ATTGTTGACTTGATCATGCTGATCATATTTTTCCTGGATAATGTCATCATGTGGTGGGAAAGCTTGCTTCTCTTAACAGCTTATTTTTGCTATGTGGTTTTCATG
AAATTCAACGTCCAAGTAGAAAAATGGGTGAAGCAAATGATAAACCGCAATAAGGTCGTCAAGGTGACAGCACCAGAAGCCCAAGCAAAGCCATCTGCAGCCAGG
GACAAGGATGAACCAACTCTACCGGCTAAGCCGCGTCTCCAGCGAGGTGGAAGCTCTGCCTCCCTCCACAACAGTCTCATGAGGAATAGCATCTTCCAACTCATG
ATACACACCCTTGACCCACTCGCCGAAGGGAGGTTCAGAGAAAAGGCTTCAATTCTCCACAAGATCGCCAAGAAGAAATGTCATGTGGATGAGAACGAGAGGCAG
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ATGGATCTGCAACAAAGCACCACCATCACTTCCCTAGAGAAATGGTGTTTGGATGAGTCACTGTCTGGCTGCAGAAGACATTATAGTGTCAAGAAAAAACTGAAG
TTAATTCGAGTCTTAGGCCTTTTCATGGGTCTGGTAGCCATTAGCACTGTCTCATTTTCAATCAGTGCCTTTTCTGAGACAGATACACAGAGCACAGGAGAGGCC
AGTGTTGTAAGTGGCCCTAGGGTAGCACAGGGTTACCATCAGAGAACTCTCTTAGATTTAAATGACAAGATTCTGGATTATACTCCACAGCCACCTCTTTCTAAG
GAAGGCGAGTCTGAGAATAGTACAGATCACGCCCAAGGAGACTACCCGAAAGACATCTTTTCCCTTGAGGAGAGAAGAAAAGGTGCGATCATTCTGCATGTCATT
GGAATGATCTACATGTTCATAGCCTTAGCCATTGTCTGTGATGAGTTCTTTGTTCCTTCTTTGACTGTCATCACTGAAAAACTGGGCATCTCTGATGATGTGGCT
GGAGCCACCTTCATGGCTGCAGGAGGGTCAGCCCCAGAACTTTTCACATCTCTCATAGGGGTATTTATCGCTCACAGCAACGTTGGCATAGGCACAATTGTAGGT
TCAGCAGTATTCAACATCCTCTTTGTTATTGGCATGTGTGCTCTGTTTTCTAGAGAAATCTTAAACCTGACATGGTGGCCGCTCTTTCGAGATGTGTCTTTCTAC
ATTGTTGACTTGATCATGCTGATCATATTTTTCCTGGATAATGTCATCATGTGGTGGGAAAGCTTGCTTCTCTTAACAGCTTATTTTTGCTATGTGGTTTTCATG
AAATTCAACGTCCAAGTAGAAAAATGGGTGAAGCAAATGATAAACCGCAATAAGGTCGTCAAGGTGACAGCACCAGAAGCCCAAGCAAAGCCATCTGCAGCCAGG
GACAAGGATGAACCAACTCTACCGGCTAAGCCGCGTCTCCAGCGAGGTGGAAGCTCTGCCTCCCTCCACAACAGTCTCATGAGGAATAGCATCTTCCAACTCATG
ATACACACCCTTGACCCACTCGCCGAAGGGAGGTTCAGAGAAAAGGCTTCAATTCTCCACAAGATCGCCAAGAAGAAATGTCATGTGGATGAGAACGAGAGGCAG
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>SLC24A2|25769|protein
MDLQQSTTITSLEKWCLDESLSGCRRHYSVKKKLKLIRVLGLFMGLVAISTVSFSISAFSETDTQSTGEASVVSGPRVAQGYHQRTLLDLNDKILDYTPQPPLSK
EGESENSTDHAQGDYPKDIFSLEERRKGAIILHVIGMIYMFIALAIVCDEFFVPSLTVITEKLGISDDVAGATFMAAGGSAPELFTSLIGVFIAHSNVGIGTIVG
SAVFNILFVIGMCALFSREILNLTWWPLFRDVSFYIVDLIMLIIFFLDNVIMWWESLLLLTAYFCYVVFMKFNVQVEKWVKQMINRNKVVKVTAPEAQAKPSAAR
DKDEPTLPAKPRLQRGGSSASLHNSLMRNSIFQLMIHTLDPLAEGRFREKASILHKIAKKKCHVDENERQNGAANHVEKIELPNSTSTDVEMTPSSDASEPVQNG
NLSHNIEGAEAQTADEEEDQPLSLAWPSETRKQVTFLIVFPIVFPLWITLPDVRKPSSRKFFPITFFGSITWIAVFSYLMVWWAHQVGETIGISEEIMGLTILAA
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MDLQQSTTITSLEKWCLDESLSGCRRHYSVKKKLKLIRVLGLFMGLVAISTVSFSISAFSETDTQSTGEASVVSGPRVAQGYHQRTLLDLNDKILDYTPQPPLSK
EGESENSTDHAQGDYPKDIFSLEERRKGAIILHVIGMIYMFIALAIVCDEFFVPSLTVITEKLGISDDVAGATFMAAGGSAPELFTSLIGVFIAHSNVGIGTIVG
SAVFNILFVIGMCALFSREILNLTWWPLFRDVSFYIVDLIMLIIFFLDNVIMWWESLLLLTAYFCYVVFMKFNVQVEKWVKQMINRNKVVKVTAPEAQAKPSAAR
DKDEPTLPAKPRLQRGGSSASLHNSLMRNSIFQLMIHTLDPLAEGRFREKASILHKIAKKKCHVDENERQNGAANHVEKIELPNSTSTDVEMTPSSDASEPVQNG
NLSHNIEGAEAQTADEEEDQPLSLAWPSETRKQVTFLIVFPIVFPLWITLPDVRKPSSRKFFPITFFGSITWIAVFSYLMVWWAHQVGETIGISEEIMGLTILAA
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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 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 10 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top