ADD2 Gene - Adducin 2
Beta-adducin, a cytoskeletal protein involved in erythrocyte membrane stability and ion transport regulation.
Gene Information Card
| Symbol | ADD2 |
|---|---|
| Full Name | Adducin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 119 ncbi.nlm.nih.gov/gene/119 |
| Ensembl ID | ENSG00000075340 |
| UniProt ID | P35612 |
| OMIM ID | 102681 |
| HGNC ID | 245 |
| Aliases | ADDB, beta-adducin |
Description
The ADD2 gene encodes beta-adducin, a subunit of the adducin heterodimer (alpha/beta or alpha/gamma). Adducin is a cytoskeletal protein that caps the fast-growing ends of actin filaments and promotes spectrin binding to actin, thereby regulating membrane stability and cell shape. Beta-adducin is predominantly expressed in erythrocytes and brain. Variants in ADD2 have been associated with hereditary spherocytosis and blood pressure regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spherocytosis | Loss-of-function mutations in ADD2 disrupt spectrin-actin binding, leading to reduced erythrocyte membrane stability and spherical red cell morphology. | ClinVar, OMIM |
| Hypertension | Polymorphisms in ADD2 (e.g., rs4984) have been linked to altered ion transport and increased blood pressure in population studies. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Blood | 8.3 | Low |
| Kidney | 6.1 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Erythroleukemia cell line; high expression |
| SH-SY5Y | 10.8 | Neuroblastoma cell line; moderate expression |
| HEK 293 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1972C>T (p.Arg658Trp) | Missense | <0.01% | Likely pathogenic; associated with spherocytosis (ClinVar) |
| c.2152G>A (p.Gly718Ser) | Missense | <0.01% | Uncertain significance (ClinVar) |
| rs4984 (3' UTR) | Regulatory | Common (MAF ~0.3) | Associated with hypertension risk in some populations (NCBI) |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the spectrin-binding domain (e.g., p.Arg658Trp) reduce adducin's ability to stabilize the membrane skeleton, leading to hereditary spherocytosis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous mutations in ADD2 can exert a dominant-negative effect by incorporating mutant beta-adducin into adducin heterodimers, impairing cytoskeletal integrity.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003779 (actin binding) | • GO:0005200 (structural constituent of cytoskeleton) |
| • GO:0005856 (cytoskeleton) | • GO:0005515 (protein binding) |
| • GO:0030507 (spectrin binding) |
Pathways
• UniProt: Adducin pathway (spectrin-actin crosslinking)
• NCBI: Erythrocyte membrane skeleton
Protein Summary
Beta-adducin (UniProt P35612) is a 726-amino acid protein that forms heterodimers with alpha- or gamma-adducin. It contains an N-terminal head domain, a neck domain, and a C-terminal tail domain. The protein localizes to the plasma membrane and is critical for maintaining erythrocyte shape and deformability. Phosphorylation by protein kinase A and C modulates its actin-capping activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADD2 Knockout HEK293 Cell Line | EDJ-KQ4012 | Human | 119 | Details Get a Quote |
| ADD2 Knockout A-549 Cell Line | EDJ-KQ26337 | Human | 119 | Details Get a Quote |
| ADD2 Knockout HeLa Cell Line | EDJ-KQ52555 | Human | 119 | Details Get a Quote |
| ADD2 Knockout HCT 116 Cell Line | EDJ-KQ69513 | Human | 119 | Details Get a Quote |
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