Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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154664 |
Gene nameGene Name - the full gene name approved by the HGNC.
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ATP binding cassette subfamily A member 13 |
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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ABCA13 |
SynonymsGene synonyms aliases
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- |
ChromosomeChromosome number
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7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p12.3 |
SummarySummary 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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs781126037 |
A>-,AA |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs797045205 |
T>C |
Likely-pathogenic |
Intron variant, splice donor variant, genic downstream transcript variant |
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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
|
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
Accession |
ID |
Position in sequence |
Description |
Type |
PF12698 |
ABC2_membrane_3 |
3305 → 3772 |
|
Family |
PF00005 |
ABC_tran |
3858 → 4004 |
ABC transporter |
Domain |
PF12698 |
ABC2_membrane_3 |
4341 → 4674 |
|
Family |
PF00005 |
ABC_tran |
4737 → 4885 |
ABC transporter |
Domain |
|
Sequence |
|
Sequence length |
5058 |
Interactions |
View interactions |