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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ADD2
adducin 2
Chromosome 2 · 2p13.3
NCBI Gene: 119Ensembl: ENSG00000075340.24HGNC: HGNC:244UniProt: P35612
94PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin bindingleukocyte migrationleukocyte tethering or rollingbarbed-end actin filament cappingliver diseasesialolithiasisfemur fracturechronic intestinal vascular insufficiency
✦AI Summary

ADD2 (adducin 2) is a membrane-cytoskeleton-associated protein that functions as a key component of the spectrin-actin cytoskeletal network 1. As a heterodimeric protein encoded by one of three related adducin genes, ADD2 promotes assembly of spectrin-actin networks and provides a link between the spectrin cytoskeleton and plasma membrane through binding to the glucose transporter SLC2A1/GLUT1 2. ADD2 undergoes extensive alternative splicing, producing multiple isoforms (β1, β4a-d) with tissue-specific expression patterns, particularly enriched in brain, liver, and kidney 1. Unlike ADD1, ADD2 exhibits functional nuclear export signals and primarily localizes to the cytoplasm despite possessing a nuclear localization signal, indicating active nuclear-cytoplasmic shuttling 3. Clinically, ADD2 variants are associated with hypertension risk; a specific polymorphism (rs4852706) showed significant association with hypertension in population studies 4. ADD2 expression is regulated by TDP-43, an RNA-binding protein whose depletion reduces ADD2 mRNA stability 5. Since ADD2 participates in synapse assembly and synaptic plasticity, TDP-43-mediated ADD2 loss may contribute to neurodegeneration in ALS and FTD 5. Additionally, serum autoantibodies against ADD2 show diagnostic potential for Alzheimer's disease, where ADD2 is downregulated in affected brain tissue 6.

Sources cited
1
ADD2 is a cytoskeleton heterodimeric protein with tissue-specific expression and multiple splice variants (β1, β4a-d) enriched in brain, liver, and kidney
PMID: 12951058
2
ADD2 gene spans 100 kb on chromosome 2p13 with 17 exons and undergoes alternative splicing producing multiple isoforms
PMID: 9244430
3
ADD2 possesses functional nuclear localization and export signals, primarily localizing to cytoplasm with active nuclear-cytoplasmic shuttling
PMID: 28490361
4
ADD2 polymorphism rs4852706 is associated with hypertension risk in population studies
PMID: 24652215
5
TDP-43 regulates ADD2 mRNA stability, and ADD2 participates in synapse assembly and synaptic plasticity; loss of ADD2 may contribute to ALS and FTD
PMID: 25602706
6
ADD2 autoantibodies show diagnostic ability for Alzheimer's disease and ADD2 is downregulated in AD brain tissue
PMID: 34628858
Disease Associationsⓘ20
liver diseaseOpen Targets
0.31Weak
sialolithiasisOpen Targets
0.24Weak
femur fractureOpen Targets
0.09Suggestive
chronic intestinal vascular insufficiencyOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.07Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.07Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.07Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.07Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.07Suggestive
severe congenital hypochromic anemia with ringed sideroblastsOpen Targets
0.07Suggestive
hemoglobin D diseaseOpen Targets
0.07Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.07Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
dominant beta-thalassemiaOpen Targets
0.06Suggestive
cryohydrocytosisOpen Targets
0.06Suggestive
Hereditary cryohydrocytosis with normal stomatinOpen Targets
0.06Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.06Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GAPDHProtein interaction100%ENOPH1Protein interaction98%TMOD4Protein interaction95%TMOD1Protein interaction95%TMOD3Protein interaction94%TMOD2Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
30%
Heart
1%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
ADD2GAPDHENOPH1TMOD4TMOD1TMOD3TMOD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P35612
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.20–0.39]
RankingsWhere ADD2 stands among ~20K protein-coding genes
  • #5,068of 20,598
    Most Researched94 · top quartile
  • #1,887of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedADD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expression analysis of the human adducin gene family and evidence of ADD2 beta4 multiple splicing variants.
PMID: 12951058
Biochem Biophys Res Commun · 2003
1.00
2
Organization of the human beta-adducin gene (ADD2).
PMID: 9244430
Genomics · 1997
0.90
3
TDP-43 regulates β-adducin (Add2) transcript stability.
PMID: 25602706
RNA Biol · 2014
0.80
4
Adducin family proteins possess different nuclear export potentials.
PMID: 28490361
J Biomed Sci · 2017
0.70
5
Adducin polymorphisms and the treatment of hypertension.
PMID: 17465710
Pharmacogenomics · 2007
0.60