ABCA13 (ATP binding cassette subfamily A member 13)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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154664 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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ATP binding cassette subfamily A member 13 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ABCA13 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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Chromosome
Chromosome number
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7 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p12.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. L |
SNPs
SNP information provided by dbSNP.
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miRNA
miRNA 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 IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | ||||||||||||||||||||||||||
UniProt ID | Q86UQ4 | |||||||||||||||||||||||||
Protein name | ATP-binding cassette sub-family A member 13 (EC 7.6.2.-) | |||||||||||||||||||||||||
Protein function | May mediate the cholesterol and gangliosides transport from the plasma membrane to intracellular vesicles in an ATP hydrolysis dependent manner, thus playing a role in their internalization by endocytic retrograde transport and may also particip | |||||||||||||||||||||||||
Family and domains |
Pfam
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Tissue specificity | TISSUE SPECIFICITY: Significantly expressed in the bone marrow, trachea, testis, thyroid and lung as well as in skin fibroblasts. {ECO:0000269|PubMed:12697998, ECO:0000269|PubMed:23266639}. | |||||||||||||||||||||||||
Sequence |
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Sequence length | 5058 | |||||||||||||||||||||||||
Interactions | View interactions |
Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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