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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 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]
ADD2 (Adducin 2) is a Protein Coding gene. Diseases associated with ADD2 include Actinomycosis and Hereditary Elliptocytosis. Among its related pathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and actin binding. An important paralog of this gene is ADD3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IMP | 25425738 |
GO:0005198 | structural molecule activity | IBA | 21873635 |
GO:0005200 | structural constituent of cytoskeleton | IEA | -- |
GO:0005516 | calmodulin binding | IEA | -- |
GO:0019901 | protein kinase binding | IPI | 25425738 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA,IBA | 21873635 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0008290 | F-actin capping protein complex | IDA | 8626479 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
2 | Miscellaneous transport and binding events | ||
3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
4 | Aquaporin-mediated transport |
Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007416 | synapse assembly | IEA | -- |
GO:0030036 | actin cytoskeleton organization | IC | 3693401 |
GO:0030097 | hemopoiesis | IEA | -- |
GO:0032092 | positive regulation of protein binding | IDA | 3693401 |
GO:0050900 | leukocyte migration | IMP | 25425738 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | · | 9e | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - |
ExUns: | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | - | |||||||||||||
SP3: | - | - | |||||||||||||
SP4: | |||||||||||||||
SP5: | |||||||||||||||
SP6: | |||||||||||||||
SP7: | |||||||||||||||
SP8: | |||||||||||||||
SP9: | |||||||||||||||
SP10: | |||||||||||||||
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADD2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ADD2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ADD2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADD2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Add2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Add2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | ADD2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ADD2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | add2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | add2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | hts 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | add-1 31 |
|
ManyToMany | |
add-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710414 | Benign: not provided | 70,706,359(-) | C/T | MISSENSE_VARIANT | |
783330 | Benign: not provided | 70,683,711(-) | C/A | MISSENSE_VARIANT | |
783975 | Benign: not provided | 70,706,327(-) | C/T | MISSENSE_VARIANT | |
rs17855969 | - | p.Thr439Ala | |||
rs4982 | - | p.Glu335Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2659183 | CNV | deletion | 23128226 |
esv2762674 | CNV | gain | 21179565 |
esv3429524 | CNV | insertion | 20981092 |
esv3583858 | CNV | loss | 25503493 |
esv3591211 | CNV | loss | 21293372 |
esv3892614 | CNV | gain | 25118596 |
nsv1146915 | OTHER | inversion | 26484159 |
nsv2770 | CNV | insertion | 18451855 |
nsv582192 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
actinomycosis |
|
|
hereditary elliptocytosis |
|
|
hereditary spherocytosis |
|
|
capillariasis |
|
|
filamentary keratitis |
|
|