Homo sapiens Gene: ADD2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-55426.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | ADD2 | ||||||||||||||||||||||
Gene Name | adducin 2 (beta) | ||||||||||||||||||||||
Synonyms | ADDB | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000075340 | ||||||||||||||||||||||
Encoded Proteins |
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
adducin 2 (beta)
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
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 network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 2:70607618-70768225 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | p13.3 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Hs.188528 | ||||||||||||||||||||||
RefSeq | NM_001185054 NM_001185055 NM_001617 NM_017482 NM_017488 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS1906 CCDS1909 CCDS46318 CCDS54365 | ||||||||||||||||||||||
HPRD | 00037 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||