Evidence Details for L2HGDH
Basic Information Top
| Gene Symbol: | L2HGDH ( C14orf160,DURANIN,FLJ12618 ) |
|---|---|
| Gene Full Name: | L-2-hydroxyglutarate dehydrogenase |
| Band: | 14q21.3 |
| Quick Links | Entrez ID:79944; OMIM: 609584; Uniprot ID:L2HDH_HUMAN; ENSEMBL ID: ENSG00000087299; HGNC ID: 20499 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>L2HGDH|79944|nucleotide
ATGGTGCCAGCGCTGCGTTATTTGGTTGGTGCCTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTGGGGCGTGCGGGTTCGCGTCTGGGAGGCCAAGA
CCGCTGTGTGGAGGTAGCCGCAGCGCCAGCACCAGCTCATTTGATATAGTCATCGTTGGTGGCGGAATTGTGGGGCTTGCCTCTGCCAGAGCACTCATCCTGCGA
CATCCATCACTTTCTATTGGTGTTCTGGAAAAGGAGAAAGATTTAGCTGTTCACCAGACTGGACATAACAGTGGTGTCATACATAGTGGAATTTATTATAAACCT
GAGTCTCTGAAAGCCAAATTATGTGTACAAGGTGCAGCCCTCCTCTATGAGTACTGTCAGCAAAAGGGAATTTCCTACAAGCAGTGTGGCAAGCTTATAGTAGCT
GTTGAACAAGAAGAAATTCCCAGACTTCAGGCCCTATATGAGAAAGGCCTCCAGAATGGTGTCCCGGGCCTGAGGCTGATCCAGCAGGAGGATATAAAAAAGAAG
GAGCCATATTGTAGGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGCCCAGGATTTCCAAGAAGCAGGT
GGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTATAGATGGAATGCAATATCCAATTGTTATAAAGAATACA
AAGGGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGACTTTACTCAGACCGTATTTCAGAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCA
TTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATGTTATCTTGTAAAAGGAAATATTTATCCGGTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTC
ACACCAAGGATGGATGGCAGTATTTGGCTAGGGCCTAATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTGCCACAGATGTTATGGAT
ATAATTATCAATAGTGGCTTGATTAAACTGGCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCAACAGTGAAGTATCTT
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ATGGTGCCAGCGCTGCGTTATTTGGTTGGTGCCTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTGGGGCGTGCGGGTTCGCGTCTGGGAGGCCAAGA
CCGCTGTGTGGAGGTAGCCGCAGCGCCAGCACCAGCTCATTTGATATAGTCATCGTTGGTGGCGGAATTGTGGGGCTTGCCTCTGCCAGAGCACTCATCCTGCGA
CATCCATCACTTTCTATTGGTGTTCTGGAAAAGGAGAAAGATTTAGCTGTTCACCAGACTGGACATAACAGTGGTGTCATACATAGTGGAATTTATTATAAACCT
GAGTCTCTGAAAGCCAAATTATGTGTACAAGGTGCAGCCCTCCTCTATGAGTACTGTCAGCAAAAGGGAATTTCCTACAAGCAGTGTGGCAAGCTTATAGTAGCT
GTTGAACAAGAAGAAATTCCCAGACTTCAGGCCCTATATGAGAAAGGCCTCCAGAATGGTGTCCCGGGCCTGAGGCTGATCCAGCAGGAGGATATAAAAAAGAAG
GAGCCATATTGTAGGGGTCTAATGGCTATTGATTGTCCACATACTGGCATTGTGGACTATCGGCAGGTGGCTTTGTCATTTGCCCAGGATTTCCAAGAAGCAGGT
GGCTCTGTCTTGACCAATTTTGAAGTAAAAGGTATTGAAATGGCTAAAGAAAGTCCTTCAAGAAGTATAGATGGAATGCAATATCCAATTGTTATAAAGAATACA
AAGGGAGAGGAAATTCGATGTCAGTATGTTGTGACATGTGCAGGACTTTACTCAGACCGTATTTCAGAGTTGAGTGGCTGCACTCCTGATCCTCGAATTGTACCA
TTCCGGGGAGATTACCTGCTTTTGAAGCCAGAAAAATGTTATCTTGTAAAAGGAAATATTTATCCGGTCCCAGATAGCCGGTTTCCTTTCCTAGGAGTTCACTTC
ACACCAAGGATGGATGGCAGTATTTGGCTAGGGCCTAATGCAGTTCTTGCCTTTAAACGAGAGGGTTACAGACCCTTTGACTTCAGTGCCACAGATGTTATGGAT
ATAATTATCAATAGTGGCTTGATTAAACTGGCATCCCAGAATTTTTCCTATGGAGTTACTGAAATGTATAAAGCATGTTTTCTTGGTGCAACAGTGAAGTATCTT
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>L2HGDH|79944|protein
MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKP
ESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAG
GSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHF
TPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFV
FDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL
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MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKP
ESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAG
GSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHF
TPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFV
FDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL
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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) | Yes | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR |
|---|---|
| OMIM | L-2-hydroxyglutaric aciduria (236792) |
| Description | l-2-hydroxyglutaric aciduria |
| Reference(s) | 17981416; |
| Level | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage 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.