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ADD2 Gene(Protein Coding)

Adducin 2

GCID:
GC02M070626
GIFtS:
50
Genes Participants
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Aliases for ADD2 Gene

Aliases for ADD2 Gene

  • Adducin 2 2 3 5
  • Erythrocyte Adducin Subunit Beta 3 4
  • Adducin 2 (Beta) 2 3
  • Beta-Adducin 2 3
  • ADDB 3 4

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) is a Protein Coding gene. Diseases associated with ADD2 include Capillariasis and Hereditary Spherocytosis. Among its related pathways are Activation of cAMP-Dependent PKA and Aquaporin-mediated transport. Gene Ontology (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

Additional gene information for ADD2 Gene

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

Genomics for ADD2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ADD2 Gene

Promoters and enhancers for ADD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I070766 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 556 +0.8 820 1.8 PKNOX1 SIN3A ZNF2 GLIS2 ZNF213 KLF7 SP3 REST ZNF592 MBD2 ADD2 TIA1 MPHOSPH10 FIGLA PIR38094
GH02I070717 Promoter 1.1 EPDnew 560.9 +50.5 50476 0.1 HDAC1 ARNT NCOA2 TCF12 GATA2 EGR1 ATF7 SMAD5 GTF2B NCOA1 ADD2 PCBP1-AS1 GMCL1 NAGK PIR38094
GH02I070732 Enhancer 0.4 ENCODE 33.8 +34.5 34498 2.6 RFX1 POLR2A RCOR1 ADD2 FIGLA PIR38094
GH02I070727 Enhancer 0.7 ENCODE 19.2 +39.6 39637 1.3 ZFP64 ZNF140 SIN3A ZNF697 ZNF791 POLR2A ZNF433 EGR2 CEBPB ZC3H11A TIA1 ZNF638 ANKRD53 TEX261 PCBP1-AS1 MPHOSPH10 ADD2 CLEC4F LOC105374796 GMCL1
GH02I070522 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.9 +243.4 243437 4 ELF3 PKNOX1 FOXA2 SIN3A RAD21 DNMT3B RFX5 SCRT2 RCOR1 ATF7 TGFA ADD2 ASPRV1 TGFA-IT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADD2 gene promoter:

Genomic Locations for ADD2 Gene

Genomic Locations for ADD2 Gene
chr2:70,607,618-70,768,243
(GRCh38/hg38)
Size:
160,626 bases
Orientation:
Minus strand
chr2:70,834,750-70,995,375
(GRCh37/hg19)

Genomic View for ADD2 Gene

Genes around ADD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADD2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ADD2 Gene

Proteins for ADD2 Gene

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  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ADD2 Gene

Protein Expression for ADD2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ADD2 Gene

Other Protein References for ADD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ADD2 Gene

Domains & Families for ADD2 Gene

Gene Families for ADD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ADD2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ADD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35612

UniProtKB/Swiss-Prot:

ADDB_HUMAN :
  • 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.
  • Belongs to the aldolase class II family. Adducin subfamily.
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

Function for ADD2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

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.

Phenotypes From GWAS Catalog for ADD2 Gene

Gene Ontology (GO) - Molecular Function for ADD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IMP 25425738
GO:0005198 structural molecule activity IEA --
GO:0005516 calmodulin binding IEA --
GO:0019901 protein kinase binding IPI 25425738
GO:0030507 spectrin binding IDA 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

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADD2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0008290 F-actin capping protein complex IDA 8626479
genes like me logo Genes that share ontologies with ADD2: view

Pathways & Interactions for ADD2 Gene

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

SIGNOR curated interactions for ADD2 Gene

Is inactivated by:

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:0050900 leukocyte migration IMP 25425738
genes like me logo Genes that share ontologies with ADD2: view

Drugs & Compounds for ADD2 Gene

Products:

  1. Drug

(3) Drugs for ADD2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ADD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADD2: view

Transcripts for ADD2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for ADD2 Gene

(11) REFSEQ mRNAs :
(19) Additional mRNA sequences :
(173) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADD2 Gene

Adducin 2 (beta):
Representative Sequences:

CRISPR Products

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADD2 Gene

mRNA expression in normal human tissues for ADD2 Gene
mRNA expression by GTEx for ADD2 GenemRNA expression by BioGPS 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 (x8.0), Brain - Cerebellum (x5.9), Brain - Frontal Cortex (BA9) (x5.2), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Cortex (x4.5).

Protein differential expression in normal tissues from HIPED for ADD2 Gene

This gene is overexpressed in Brain (27.3), Frontal cortex (26.1), and Fetal Brain (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADD2 Gene



Protein tissue co-expression partners for ADD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADD2 Gene:

ADD2

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.

Evidence on tissue expression from TISSUES for ADD2 Gene

  • Nervous system(5)
  • Blood(4.5)
  • Eye(4.4)
  • Bone marrow(4.3)
  • Heart(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ADD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADD2 Gene

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 33 34
  • 99.72 (n)
cow
(Bos Taurus)
 Mammalia ADD2 33 34
  • 90.88 (n)
oppossum
(Monodelphis domestica)
 Mammalia ADD2 34
  • 89 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ADD2 33 34
  • 88 (n)
rat
(Rattus norvegicus)
 Mammalia Add2 33
  • 87.87 (n)
mouse
(Mus musculus)
 Mammalia Add2 33 16 34
  • 87.69 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 49 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves ADD2 34
  • 73 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ADD2 34
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia add2 33
  • 73.95 (n)
zebrafish
(Danio rerio)
 Actinopterygii add2 33 34
  • 64.63 (n)
fruit fly
(Drosophila melanogaster)
 Insecta hts 35 34
  • 36 (a)
worm
(Caenorhabditis elegans)
 Secernentea add-1 34
  • 28 (a)
 ManyToMany
add-2 34
  • 23 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 28 (a)
 OneToMany
Species where no ortholog for ADD2 was found in the sources mined by GeneCards:
  • 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

(2) 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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ADD2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000023958 -- 70,671,589(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000055079 -- 70,671,379(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000067782 -- 70,755,504(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000117222 -- 70,715,453(-) G/A intron_variant
rs1000142601 -- 70,709,102(-) G/A intron_variant

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

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

Variation tolerance for ADD2 Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADD2

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADD2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ADD2 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
capillariasis
  • capillaria infection
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
echolalia
exhibitionism
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards
Search ADD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADD2: view

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

Publications for ADD2 Gene

  1. Primary structure and domain organization of human alpha and beta adducin. (PMID: 1840603) Joshi R … Bennett V (The Journal of cell biology 1991) 2 3 4 22 58
  2. alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy. (PMID: 19838659) Ferrandi M … Bianchi G (Journal of molecular medicine (Berlin, Germany) 2010) 3 22 44 58
  3. Arterial properties in relation to genetic variations in the adducin subunits in a white population. (PMID: 18787518) Seidlerová J … Bianchi G (American journal of hypertension 2009) 3 22 44 58
  4. Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphatic hydrops in Ménière's syndrome. (PMID: 18667944) Teggi R … Bussi M (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2008) 3 22 44 58
  5. Investigation of Adducin 2 (beta) DNA polymorphisms in genetic predisposition to diabetic nephropathy in Type 1 diabetes. (PMID: 18959617) Currie D … Warren 3/UK GoKinD Study Group (Diabetic medicine : a journal of the British Diabetic Association 2008) 3 22 44 58

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