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Aliases for ADD2 Gene

Aliases for ADD2 Gene

  • Adducin 2 (Beta) 2 3
  • Erythrocyte Adducin Subunit Beta 3 4
  • ADDB 3 4
  • Beta-Adducin 3

External Ids for ADD2 Gene

Previous GeneCards Identifiers for ADD2 Gene

  • GC02M070898
  • GC02M071100
  • GC02M070863
  • GC02M070800

Summaries for ADD2 Gene

Entrez Gene Summary for ADD2 Gene

  • 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]

GeneCards Summary for ADD2 Gene

ADD2 (Adducin 2 (Beta)) is a Protein Coding gene. Diseases associated with ADD2 include capillariasis and exhibitionism. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include protein homodimerization activity and actin binding. An important paralog of this gene is ADD3.

UniProtKB/Swiss-Prot for ADD2 Gene

  • 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. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit.

Gene Wiki entry for ADD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADD2 Gene

Genomics for ADD2 Gene

Regulatory Elements for ADD2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ADD2 Gene

Start:
70,607,618 bp from pter
End:
70,768,243 bp from pter
Size:
160,626 bases
Orientation:
Minus strand

Genomic View for ADD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADD2 Gene

Proteins for ADD2 Gene

  • Protein details for ADD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35612-ADDB_HUMAN
    Recommended name:
    Beta-adducin
    Protein Accession:
    P35612
    Secondary Accessions:
    • A8K4P2
    • B4DM17
    • D6W5G7
    • D6W5G8
    • Q13482
    • Q16412
    • Q59G82
    • Q5U5P4
    • Q6P0P2
    • Q6PGQ4
    • Q7Z688
    • Q7Z689
    • Q7Z690
    • Q7Z691

    Protein attributes for ADD2 Gene

    Size:
    726 amino acids
    Molecular mass:
    80854 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Found in a complex with ADD2, DMTN and SLC2A1. Interacts with SLC2A1.
    SequenceCaution:
    • Sequence=BAD92464.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ADD2 Gene

neXtProt entry for ADD2 Gene

Proteomics data for ADD2 Gene at MOPED

Post-translational modifications for ADD2 Gene

No data available for DME Specific Peptides for ADD2 Gene

Domains for ADD2 Gene

Protein Domains for ADD2 Gene

Suggested Antigen Peptide Sequences for ADD2 Gene

Graphical View of Domain Structure for InterPro Entry

P35612

UniProtKB/Swiss-Prot:

ADDB_HUMAN :
  • P35612
Domain:
  • Each subunit is comprised of three regions: a NH2-terminal protease-resistant globular head region, a short connecting subdomain, and a protease-sensitive tail region
Family:
  • Belongs to the aldolase class II family. Adducin subfamily.
genes like me logo Genes that share domains with ADD2: view

No data available for Gene Families for ADD2 Gene

Function for ADD2 Gene

Molecular function for ADD2 Gene

GENATLAS Biochemistry: adducin beta,actin accessory protein,calmodulin binding protein,97kDa,component of the erythrocyte membrane skeleton,also expressed in brain,kidney,liver,intestine,leukocytes,platelets
UniProtKB/Swiss-Prot 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. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit.

Gene Ontology (GO) - Molecular Function for ADD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 1840603
GO:0005198 structural molecule activity IEA --
GO:0005516 calmodulin binding IEA --
GO:0030507 spectrin binding IDA 7642559
GO:0042803 protein homodimerization activity IPI 7642559
genes like me logo Genes that share ontologies with ADD2: view
genes like me logo Genes that share phenotypes with ADD2: view

Animal Models for ADD2 Gene

MGI Knock Outs for ADD2:

Animal Model Products

miRNA for ADD2 Gene

miRTarBase miRNAs that target ADD2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADD2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ADD2 Gene

Localization for ADD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADD2 Gene

Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADD2 Gene COMPARTMENTS Subcellular localization image for ADD2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ADD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton --
GO:0005886 plasma membrane IEA --
GO:0008290 F-actin capping protein complex IDA 8626479
GO:0016020 membrane --
genes like me logo Genes that share ontologies with ADD2: view

Pathways for ADD2 Gene

genes like me logo Genes that share pathways with ADD2: view

Pathways by source for ADD2 Gene

Gene Ontology (GO) - Biological Process for ADD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IDA 18347014
GO:0030036 actin cytoskeleton organization IC 3693401
GO:0030097 hemopoiesis IEA --
GO:0032092 positive regulation of protein binding IDA 3693401
GO:0051016 barbed-end actin filament capping IDA 8626479
genes like me logo Genes that share ontologies with ADD2: view

Compounds for ADD2 Gene

(4) Novoseek inferred chemical compound relationships for ADD2 Gene

Compound -log(P) Hits PubMed IDs
sodium 37.8 1
tyrosine 15 4
calcium 0 4
serine 0 1
genes like me logo Genes that share compounds with ADD2: view

Transcripts for ADD2 Gene

Unigene Clusters for ADD2 Gene

Adducin 2 (beta):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ADD2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADD2 Gene

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:

Relevant External Links for ADD2 Gene

GeneLoc Exon Structure for
ADD2
ECgene alternative splicing isoforms for
ADD2

Expression for ADD2 Gene

mRNA expression in normal human tissues for ADD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADD2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (8.0), Brain - Cerebellum (5.9), Brain - Frontal Cortex (BA9) (5.2), Brain - Anterior cingulate cortex (BA24) (4.8), and Brain - Cortex (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ADD2 Gene

SOURCE GeneReport for Unigene cluster for ADD2 Gene Hs.188528

mRNA Expression by UniProt/SwissProt for ADD2 Gene

P35612-ADDB_HUMAN
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.
genes like me logo Genes that share expressions with ADD2: view

In Situ Assay Products

Orthologs for ADD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADD2 35
  • 99.72 (n)
  • 99.86 (a)
ADD2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADD2 35
  • 90.88 (n)
  • 93.97 (a)
ADD2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADD2 35
  • 88 (n)
  • 91.28 (a)
ADD2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Add2 35
  • 87.69 (n)
  • 92.84 (a)
Add2 16
Add2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADD2 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 49 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Add2 35
  • 87.87 (n)
  • 92.42 (a)
chicken
(Gallus gallus)
Aves ADD2 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADD2 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia add2 35
  • 73.95 (n)
  • 77.44 (a)
zebrafish
(Danio rerio)
Actinopterygii add2 35
  • 64.63 (n)
  • 63.76 (a)
add2 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hts 36
  • 13 (a)
OneToMany
hts 37
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea add-1 36
  • 28 (a)
ManyToMany
add-2 36
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for ADD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADD2 Gene

ENSEMBL:
Gene Tree for ADD2 (if available)
TreeFam:
Gene Tree for ADD2 (if available)

Paralogs for ADD2 Gene

Paralogs for ADD2 Gene

Selected SIMAP similar genes for ADD2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ADD2: view

Variants for ADD2 Gene

Sequence variations from dbSNP and Humsavar for ADD2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs2128 -- 70,723,888(+) ATGAA(C/T)GGTAT intron-variant
rs2129 -- 70,723,933(+) CACCA(C/T)TTAGA intron-variant
rs4982 - 70,683,711(-) CAGGA(G/T)AAGCA reference, missense
rs4983 -- 70,673,288(-) CGGCC(A/G)TGTGC intron-variant, missense, reference
rs4984 -- 70,673,271(-) TTCAG(C/T)GTTGC intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ADD2 Gene

Variant ID Type Subtype PubMed ID
nsv2770 CNV Insertion 18451855
esv2659183 CNV Deletion 23128226

Relevant External Links for ADD2 Gene

HapMap Linkage Disequilibrium report
ADD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADD2 Gene

Disorders for ADD2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for ADD2 Gene including...

Search for ADD2 Gene in MalaCards »

(3) University of Copenhagen DISEASES for ADD2 Gene

(5) Novoseek inferred disease relationships for ADD2 Gene

Disease -log(P) Hits PubMed IDs
elliptocytosis hereditary 66.4 1
spherocytosis hereditary 56.7 1
essential hypertension 44.7 1
hemolysis 19.9 1
anemia 12.2 1

Relevant External Links for ADD2

Genetic Association Database (GAD)
ADD2
Human Genome Epidemiology (HuGE) Navigator
ADD2
genes like me logo Genes that share disorders with ADD2: view

No data available for UniProtKB/Swiss-Prot for ADD2 Gene

Publications for ADD2 Gene

  1. Primary structure and domain organization of human alpha and beta adducin. (PMID: 1840603) Joshi R.L. … Bennett V.D. (J. Cell Biol. 1991) 2 3 4 23
  2. Association between hypertension and variation in the alpha- and beta-adducin genes in a white population. (PMID: 12427140) Wang J.G. … Bianchi G. (Kidney Int. 2002) 3 23 48
  3. Haematological phenotypes in relation to the C1797T beta-adducin polymorphism in a Caucasian population. (PMID: 12653680) Wang J.G. … Staessen J.A. (Clin. Sci. 2003) 3 23 48
  4. Genomic organisation and chromosomal localisation of the gene encoding human beta adducin. (PMID: 8566798) Tisminetzky S. … Baralle F.E. (Gene 1995) 3 4 23
  5. Adducin regulation. Definition of the calmodulin-binding domain and sites of phosphorylation by protein kinases A and C. (PMID: 8810272) Matsuoka Y. … Bennett V. (J. Biol. Chem. 1996) 3 4 23

Products for ADD2 Gene

Sources for ADD2 Gene

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