Evidence Details for KDELR2
Basic Information Top
| Gene Symbol: | KDELR2 ( ELP-1,ERD2.2,FLJ45532 ) |
|---|---|
| Gene Full Name: | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 |
| Band: | 7p22.1 |
| Quick Links | Entrez ID:11014; OMIM: 609024; Uniprot ID:ERD22_HUMAN; ENSEMBL ID: ENSG00000136240; HGNC ID: 6305 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KDELR2|11014|nucleotide
ATGAACATTTTCCGGCTGACTGGGGACCTGTCCCACCTGGCGGCCATCGTCATCCTGCTGCTGAAGATCTGGAAGACGCGCTCCTGCGCCGGTATTTCTGGGAAA
AGCCAGCTTCTGTTTGCACTGGTCTTCACAACTCGTTACCTGGATCTTTTTACTTCATTTATTTCATTGTATAACACATCTATGAAGGTTATCTACCTTGCCTGC
TCCTATGCCACAGTGTACCTGATCTACCTGAAATTTAAGGCAACCTACGATGGAAATCATGATACCTTCCGAGTGGAGTTTCTGGTGGTCCCTGTGGGAGGCCTC
TCATTTTTAGTTAATCACGATTTCTCTCCTCTTGAGTACTCAAGGGAAAGAAGCTCAGTTTGCCAGCATAAGTGCCAAAGACCATCACCAGCATCTGTCCTTCAG
GGTGCTCGGACAGAATTCTTACCACAGCAAAGGCATAAGATGCTTGATACGGAAAATCAGAAACTTAACTCTTTTGTTGCAGATAGTCATCAGTGGCTCTGTAAA
AACGCAGAGGAAAAGAGCCAGAAGGTTTCTGTTTAA
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ATGAACATTTTCCGGCTGACTGGGGACCTGTCCCACCTGGCGGCCATCGTCATCCTGCTGCTGAAGATCTGGAAGACGCGCTCCTGCGCCGGTATTTCTGGGAAA
AGCCAGCTTCTGTTTGCACTGGTCTTCACAACTCGTTACCTGGATCTTTTTACTTCATTTATTTCATTGTATAACACATCTATGAAGGTTATCTACCTTGCCTGC
TCCTATGCCACAGTGTACCTGATCTACCTGAAATTTAAGGCAACCTACGATGGAAATCATGATACCTTCCGAGTGGAGTTTCTGGTGGTCCCTGTGGGAGGCCTC
TCATTTTTAGTTAATCACGATTTCTCTCCTCTTGAGTACTCAAGGGAAAGAAGCTCAGTTTGCCAGCATAAGTGCCAAAGACCATCACCAGCATCTGTCCTTCAG
GGTGCTCGGACAGAATTCTTACCACAGCAAAGGCATAAGATGCTTGATACGGAAAATCAGAAACTTAACTCTTTTGTTGCAGATAGTCATCAGTGGCTCTGTAAA
AACGCAGAGGAAAAGAGCCAGAAGGTTTCTGTTTAA
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>KDELR2|11014|protein
MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYLKFKATYDGNHDTFRVEFLVVPVGGL
SFLVNHDFSPLEYSRERSSVCQHKCQRPSPASVLQGARTEFLPQQRHKMLDTENQKLNSFVADSHQWLCKNAEEKSQKVSV
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MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYLKFKATYDGNHDTFRVEFLVVPVGGL
SFLVNHDFSPLEYSRERSSVCQHKCQRPSPASVLQGARTEFLPQQRHKMLDTENQKLNSFVADSHQWLCKNAEEKSQKVSV
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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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Yu, 2002 | USA | STS mapping |  | | PDD | 105 | - | 105 | - | - | 668 | 668 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Goitia V, 2015 | Hispanic | array CGH | - | - | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS 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.