Evidence Details for KDELR3
Basic Information Top
| Gene Symbol: | KDELR3 ( ERD2L3 ) |
|---|---|
| Gene Full Name: | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:11015; OMIM: NA; Uniprot ID:ERD23_HUMAN; ENSEMBL ID: ENSG00000100196; HGNC ID: 6306 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KDELR3|11015|nucleotide
ATGAACGTGTTCCGAATCCTCGGCGACCTGAGCCACCTCCTGGCCATGATCTTGCTGCTGGGGAAGATCTGGAGGTCCAAGTGCTGCAAGGGCATCTCTGGGAAG
AGCCAGATCCTGTTTGCTCTCGTCTTCACCACCAGGTACCTGGACCTGTTCACCAACTTCATCTCCATCTACAACACAGTAATGAAGGTGGTTTTTCTCCTCTGT
GCCTATGTTACAGTGTACATGATATATGGGAAATTCCGTAAAACTTTTGACAGTGAGAATGACACATTCCGCCTGGAGTTTCTTCTGGTCCCAGTCATTGGCCTT
TCCTTCCTTGAAAACTACAGTTTCACTCTGCTGGAGATCCTCTGGACTTTCTCTATCTATCTGGAATCAGTGGCTATCCTGCCCCAGCTCTTCATGATCAGCAAG
ACTGGAGAGGCTGAGACCATAACTACTCACTACCTGTTCTTTCTGGGTCTGTACCGGGCACTCTACCTGGCTAACTGGATCAGGCGGTACCAGACTGAGAATTTC
TATGACCAAATTGCAGTCGTGTCTGGAGTAGTACAAACCATCTTCTACTGTGACTTCTTCTACTTGTATGTGACCAAAGTCCTTAAGGGAAAGAAGTTAAGTCTT
CCAATGCCAATCTGA
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ATGAACGTGTTCCGAATCCTCGGCGACCTGAGCCACCTCCTGGCCATGATCTTGCTGCTGGGGAAGATCTGGAGGTCCAAGTGCTGCAAGGGCATCTCTGGGAAG
AGCCAGATCCTGTTTGCTCTCGTCTTCACCACCAGGTACCTGGACCTGTTCACCAACTTCATCTCCATCTACAACACAGTAATGAAGGTGGTTTTTCTCCTCTGT
GCCTATGTTACAGTGTACATGATATATGGGAAATTCCGTAAAACTTTTGACAGTGAGAATGACACATTCCGCCTGGAGTTTCTTCTGGTCCCAGTCATTGGCCTT
TCCTTCCTTGAAAACTACAGTTTCACTCTGCTGGAGATCCTCTGGACTTTCTCTATCTATCTGGAATCAGTGGCTATCCTGCCCCAGCTCTTCATGATCAGCAAG
ACTGGAGAGGCTGAGACCATAACTACTCACTACCTGTTCTTTCTGGGTCTGTACCGGGCACTCTACCTGGCTAACTGGATCAGGCGGTACCAGACTGAGAATTTC
TATGACCAAATTGCAGTCGTGTCTGGAGTAGTACAAACCATCTTCTACTGTGACTTCTTCTACTTGTATGTGACCAAAGTCCTTAAGGGAAAGAAGTTAAGTCTT
CCAATGCCAATCTGA
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>KDELR3|11015|protein
MNVFRILGDLSHLLAMILLLGKIWRSKCCKGISGKSQILFALVFTTRYLDLFTNFISIYNTVMKVVFLLCAYVTVYMIYGKFRKTFDSENDTFRLEFLLVPVIGL
SFLENYSFTLLEILWTFSIYLESVAILPQLFMISKTGEAETITTHYLFFLGLYRALYLANWIRRYQTENFYDQIAVVSGVVQTIFYCDFFYLYVTKVLKGKKLSL
PMPI
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MNVFRILGDLSHLLAMILLLGKIWRSKCCKGISGKSQILFALVFTTRYLDLFTNFISIYNTVMKVVFLLCAYVTVYMIYGKFRKTFDSENDTFRLEFLLVPVIGL
SFLENYSFTLLEILWTFSIYLESVAILPQLFMISKTGEAETITTHYLFFLGLYRALYLANWIRRYQTENFYDQIAVVSGVVQTIFYCDFFYLYVTKVLKGKKLSL
PMPI
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
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.