Evidence Details for SLC23A2
Basic Information Top
| Gene Symbol: | SLC23A2 ( KIAA0238,NBTL1,SLC23A1,SVCT2,YSPL2 ) |
|---|---|
| Gene Full Name: | solute carrier family 23 (nucleobase transporters), member 2 |
| Band: | 20p13 |
| Quick Links | Entrez ID:9962; OMIM: 603791; Uniprot ID:S23A2_HUMAN; ENSEMBL ID: ENSG00000089057; HGNC ID: 10973 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC23A2|9962|nucleotide
ATGATGGGTATTGGTAAGAATACCACATCCAAATCAATGGAGGCTGGAAGTTCAACAGAAGGCAAATACGAAGACGAGGCAAAGCACCCAGCTTTCTTCACTCTT
CCGGTGGTGATAAATGGAGGCGCCACCTCCAGCGGTGAGCAGGACAATGAGGACACTGAGCTCATGGCGATCTACACTACGGAAAACGGCATTGCAGAAAAGAGC
TCTCTCGCTGAGACCCTGGATAGCACTGGCAGTCTGGACCCCCAGCGATCAGACATGATTTATACCATAGAAGATGTTCCTCCCTGGTACCTGTGTATATTTCTG
GGGCTACAGCACTACCTGACATGCTTCAGCGGCACGATCGCAGTGCCCTTCCTGTTGGCCGATGCCATGTGTGTGGGGTACGACCAGTGGGCCACCAGCCAGCTC
ATTGGGACCATTTTCTTCTGTGTGGGAATCACTACTTTGCTACAGACAACGTTTGGATGCAGGTTACCCCTGTTTCAGGCCAGTGCTTTTGCATTTTTGGCCCCT
GCTCGAGCCATCCTGTCTTTAGATAAATGGAAATGTAACACCACAGATGTTTCAGTTGCCAATGGAACAGCAGAGCTGTTGCACACAGAACACATCTGGTATCCC
CGGATCCGAGAGATCCAGGGGGCCATCATCATGTCCTCACTGATAGAAGTAGTCATCGGCCTCCTCGGCCTGCCTGGGGCTCTACTGAAGTACATCGGTCCCTTG
ACCATTACACCCACGGTGGCCCTAATTGGCCTCTCTGGTTTCCAGGCAGCGGGGGAGAGAGCCGGGAAGCACTGGGGCATTGCCATGCTGACAATATTCCTAGTA
TTACTGTTTTCTCAATACGCCAGAAATGTTAAATTTCCTCTCCCGATTTATAAATCCAAGAAAGGATGGACTGCGTACAAGTTACAGCTGTTCAAAATGTTCCCT
ATCATCCTGGCCATCCTGGTATCCTGGCTGCTCTGCTTCATCTTCACGGTGACAGATGTCTTCCCTCCCGACAGCACAAAGTATGGCTTCTATGCTCGCACAGAT
GCCAGGCAAGGCGTGCTTCTGGTAGCCCCGTGGTTTAAGGTTCCATACCCATTTCAGTGGGGACTGCCCACCGTGTCTGCGGCCGGTGTCATCGGCATGCTCAGT
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ATGATGGGTATTGGTAAGAATACCACATCCAAATCAATGGAGGCTGGAAGTTCAACAGAAGGCAAATACGAAGACGAGGCAAAGCACCCAGCTTTCTTCACTCTT
CCGGTGGTGATAAATGGAGGCGCCACCTCCAGCGGTGAGCAGGACAATGAGGACACTGAGCTCATGGCGATCTACACTACGGAAAACGGCATTGCAGAAAAGAGC
TCTCTCGCTGAGACCCTGGATAGCACTGGCAGTCTGGACCCCCAGCGATCAGACATGATTTATACCATAGAAGATGTTCCTCCCTGGTACCTGTGTATATTTCTG
GGGCTACAGCACTACCTGACATGCTTCAGCGGCACGATCGCAGTGCCCTTCCTGTTGGCCGATGCCATGTGTGTGGGGTACGACCAGTGGGCCACCAGCCAGCTC
ATTGGGACCATTTTCTTCTGTGTGGGAATCACTACTTTGCTACAGACAACGTTTGGATGCAGGTTACCCCTGTTTCAGGCCAGTGCTTTTGCATTTTTGGCCCCT
GCTCGAGCCATCCTGTCTTTAGATAAATGGAAATGTAACACCACAGATGTTTCAGTTGCCAATGGAACAGCAGAGCTGTTGCACACAGAACACATCTGGTATCCC
CGGATCCGAGAGATCCAGGGGGCCATCATCATGTCCTCACTGATAGAAGTAGTCATCGGCCTCCTCGGCCTGCCTGGGGCTCTACTGAAGTACATCGGTCCCTTG
ACCATTACACCCACGGTGGCCCTAATTGGCCTCTCTGGTTTCCAGGCAGCGGGGGAGAGAGCCGGGAAGCACTGGGGCATTGCCATGCTGACAATATTCCTAGTA
TTACTGTTTTCTCAATACGCCAGAAATGTTAAATTTCCTCTCCCGATTTATAAATCCAAGAAAGGATGGACTGCGTACAAGTTACAGCTGTTCAAAATGTTCCCT
ATCATCCTGGCCATCCTGGTATCCTGGCTGCTCTGCTTCATCTTCACGGTGACAGATGTCTTCCCTCCCGACAGCACAAAGTATGGCTTCTATGCTCGCACAGAT
GCCAGGCAAGGCGTGCTTCTGGTAGCCCCGTGGTTTAAGGTTCCATACCCATTTCAGTGGGGACTGCCCACCGTGTCTGCGGCCGGTGTCATCGGCATGCTCAGT
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>SLC23A2|9962|protein
MMGIGKNTTSKSMEAGSSTEGKYEDEAKHPAFFTLPVVINGGATSSGEQDNEDTELMAIYTTENGIAEKSSLAETLDSTGSLDPQRSDMIYTIEDVPPWYLCIFL
GLQHYLTCFSGTIAVPFLLADAMCVGYDQWATSQLIGTIFFCVGITTLLQTTFGCRLPLFQASAFAFLAPARAILSLDKWKCNTTDVSVANGTAELLHTEHIWYP
RIREIQGAIIMSSLIEVVIGLLGLPGALLKYIGPLTITPTVALIGLSGFQAAGERAGKHWGIAMLTIFLVLLFSQYARNVKFPLPIYKSKKGWTAYKLQLFKMFP
IILAILVSWLLCFIFTVTDVFPPDSTKYGFYARTDARQGVLLVAPWFKVPYPFQWGLPTVSAAGVIGMLSAVVASIIESIGDYYACARLSCAPPPPIHAINRGIF
VEGLSCVLDGIFGTGNGSTSSSPNIGVLGITKVGSRRVIQCGAALMLALGMIGKFSALFASLPDPVLGALFCTLFGMITAVGLSNLQFIDLNSSRNLFVLGFSIF
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MMGIGKNTTSKSMEAGSSTEGKYEDEAKHPAFFTLPVVINGGATSSGEQDNEDTELMAIYTTENGIAEKSSLAETLDSTGSLDPQRSDMIYTIEDVPPWYLCIFL
GLQHYLTCFSGTIAVPFLLADAMCVGYDQWATSQLIGTIFFCVGITTLLQTTFGCRLPLFQASAFAFLAPARAILSLDKWKCNTTDVSVANGTAELLHTEHIWYP
RIREIQGAIIMSSLIEVVIGLLGLPGALLKYIGPLTITPTVALIGLSGFQAAGERAGKHWGIAMLTIFLVLLFSQYARNVKFPLPIYKSKKGWTAYKLQLFKMFP
IILAILVSWLLCFIFTVTDVFPPDSTKYGFYARTDARQGVLLVAPWFKVPYPFQWGLPTVSAAGVIGMLSAVVASIIESIGDYYACARLSCAPPPPIHAINRGIF
VEGLSCVLDGIFGTGNGSTSSSPNIGVLGITKVGSRRVIQCGAALMLALGMIGKFSALFASLPDPVLGALFCTLFGMITAVGLSNLQFIDLNSSRNLFVLGFSIF
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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 | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
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) |
||||||
| MIXED/OTHERS | |||||||||||
| Anney R, 2012_2 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 2705 | - (-) |  | | 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 | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.