ADD2 (adducin 2)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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119 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Adducin 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ADD2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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ADDB |
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Chromosome
Chromosome number
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2 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p13.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin |
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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 | P35612 | ||||||||||
| Protein name | Beta-adducin (Erythrocyte adducin subunit beta) | ||||||||||
| Protein function | Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed mainly in brain, spleen, kidney cortex and medulla, and heart. Also expressed in human umbilical vein endothelial cells, human vascular smooth muscle cells, kidney tubular cells and K-562 cell line. {ECO:0000269|PubMed:129510 | ||||||||||
| Sequence |
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| Sequence length | 726 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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