Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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51179 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Hydroxyacid oxidase 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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HAO2 |
SynonymsGene synonyms aliases
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GIG16, HAOX2 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variant |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q9NYQ3 |
Protein name |
2-Hydroxyacid oxidase 2 (HAOX2) (EC 1.1.3.15) ((S)-2-hydroxy-acid oxidase, peroxisomal) (Cell growth-inhibiting gene 16 protein) (Long chain alpha-hydroxy acid oxidase) (Long-chain L-2-hydroxy acid oxidase) |
Protein function |
Oxidase that catalyzes the oxidation of medium and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, to the correspondong 2-oxoacids (PubMed:10777549). Its role in the oxidation of 2-hydroxy fatty acids may contribut |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01070 |
FMN_dh |
13 → 348 |
FMN-dependent dehydrogenase |
Domain |
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Sequence |
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Sequence length |
351 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cholestasis |
Cholestasis |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
27989131 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Liver carcinoma |
Liver carcinoma |
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28284560 |
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