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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADD2 Gene

protein-coding   GIFtS: 61
GCID: GC02M070800

adducin 2 (beta)

 Explore 18 diseases affiliated with
ADD2 via our new
 Human Malady Compendium 
Biological research products
for ADD2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Adducin 2 (Beta)1 2
ADDB1 2 3
Erythrocyte Adducin Subunit Beta2 3
Beta-Adducin1

External Ids:    HGNC: 2441   Entrez Gene: 1192   Ensembl: ENSG000000753407   OMIM: 1026815   UniProtKB: P356123   

Export aliases for ADD2 gene to outside databases

Previous GC identifers: GC02M070898 GC02M071100 GC02M070863 GC02M070626


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ADD2:
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)

UniProtKB/Swiss-Prot: ADDB_HUMAN, P35612
Function: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to
calmodulin. Calmodulin binds preferentially to the beta subunit

Gene Wiki entry for ADD2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADD2 gene promoter:
         TBP   Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   NF-kappaB   c-Ets-1   Nkx3-1 v2   TFIID   Nkx3-1 v3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.3   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13.3

ADD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADD2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M070800:  view genomic region     (about GC identifiers)

Start:
70,834,750 bp from pter      End:
70,995,375 bp from pter
Size:
160,626 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ADDB_HUMAN, P35612 (See protein sequence)
Recommended Name: Beta-adducin  
Size: 726 amino acids; 80854 Da
Subunit: Heterodimer of an alpha and a beta subunit
Subcellular location: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side
Developmental stage: Fetal kidney expresses isoforms 3, 4, 5, 6 and 7, and fetal liver expresses isoforms 3 and 4
Sequence caution: Sequence=BAD92464.1; Type=Erroneous initiation;
Secondary accessions: A8K4P2 B4DM17 D6W5G7 D6W5G8 Q13482 Q16412 Q59G82 Q5U5P4 Q6P0P2 Q6PGQ4 Q7Z688
Q7Z689 Q7Z690 Q7Z691
Alternative splicing: 8 isoforms:  P35612-1   P35612-2   P35612-3   P35612-4   P35612-5   P35612-6   P35612-7   P35612-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADD2: NX_P35612

Post-translational modifications:

  • The N-terminus is blocked1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35612

  • ADD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001171983.1  NP_001171984.1  NP_001608.1  NP_059516.2  NP_059522.1  

    ENSEMBL proteins: 
     ENSP00000384303   ENSP00000264436   ENSP00000384677   ENSP00000414546   ENSP00000347972  
     ENSP00000430243   ENSP00000388072   ENSP00000398112   ENSP00000412357   ENSP00000412681  
     ENSP00000403722  

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    Uscn Proteins for ADD2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0008290F-actin capping protein complex IDA8626479
    GO:0016020membrane ----


    ADD2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ADD2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ADD2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001303 Aldolase_II/adducin_N

    Graphical View of Domain Structure for InterPro Entry P35612

    ProtoNet protein and cluster: P35612

    1 Blocks protein family: IPB001303 Class II aldolase/adducin

    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
    Similarity: Belongs to the aldolase class II family. Adducin subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ADDB_HUMAN, P35612
    Function: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to
    calmodulin. Calmodulin binds preferentially to the beta subunit

         Genatlas biochemistry entry for ADD2:
    adducin beta,actin accessory protein,calmodulin binding protein,97kDa,component of the erythrocyte membrane
    skeleton,also expressed in brain,kidney,liver,intestine,leukocytes,platelets

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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS1840603
    GO:0005198structural molecule activity IEA--
    GO:0005516calmodulin binding IEA--
    GO:0030507spectrin binding IDA7642559
    GO:0042803protein homodimerization activity IPI7642559


    ADD2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ADD2:
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for ADD2: Add2tm1Feb Add2tm1Llp
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Add2):
     behavior/neurological  cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  nervous system  renal/urinary system 

    ADD2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Regulation of Water Balance by Renal Aquaporins
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    Cytoskeleton remodeling_Role of PKA in cytoskeleton reorganisation0.40

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ADD2
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ADD2
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 GeneGo (Thomson Reuters) Pathway for ADD2
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation



    ADD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ADD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/17 Interacting proteins for ADD2 (P356123 ENSP000002644364) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    FYNP062413, ENSP000003576564I2D: score=4 STRING: ENSP00000357656
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0030036actin cytoskeleton organization IC3693401
    GO:0030097hemopoiesis IEA--
    GO:0032092positive regulation of protein binding IDA7642559
    GO:0051016barbed-end actin filament capping IDA8626479


    ADD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ADD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADD2
    4 Novoseek chemical compound relationships for ADD2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 37.8 1 14553963 (1)
    tyrosine 15 8 15925565 (2), 16116087 (1), 17706593 (1)
    calcium 0 4 7999065 (2), 9524222 (1), 9450942 (1)
    serine 0 1 16116087 (1)

    Search CenterWatch for drugs/clinical trials and news about ADD2 / ADDB 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADD2 gene (10 alternative transcripts): 
    NM_001185054.1  NM_001185055.1  NM_001617.3  NM_017482.3  NM_017488.3  NM_017483.2  NM_017484.2  NM_017485.1  
    NM_017486.1  NM_017487.1  

    Unigene Cluster for ADD2:

    Adducin 2 (beta)
    Hs.188528  [show with all ESTs]
    Unigene Representative Sequence: NM_017488
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403045(uc010fds.2) ENST00000264436(uc002sgy.3 uc002sgz.3)
    ENST00000407644(uc021vjc.1) ENST00000456320 ENST00000355733(uc010fdt.2)
    ENST00000481675 ENST00000522886 ENST00000413157(uc002shc.2 uc010fdu.2)
    ENST00000430656 ENST00000415348 ENST00000425976 ENST00000447731 ENST00000473232
    ENST00000496178

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    hsa-miR-3194-5p hsa-miR-219-5p hsa-miR-449a hsa-miR-298 hsa-miR-3622b-3p hsa-miR-4330 hsa-miR-378 hsa-miR-30c-2*
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    Additional cDNA sequence: 

    AB209227.1 AB593080.1 AF090096.1 AF486420.1 AF486421.1 AF486422.1 AF486423.1 AK291007.1 
    AK297250.1 AK309773.1 BC008709.1 BC010237.1 BC011416.1 BC027876.1 BC041666.1 BC051882.1 
    BC056881.1 BC065525.1 U43959.1 

    14 DOTS entries:

    DT.101984707  DT.413290  DT.95164840  DT.92336083  DT.442959  DT.91913662  DT.120931132  DT.120931146 
    DT.95341603  DT.100654422  DT.91950195  DT.95164835  DT.99991629  DT.105967 

    24/173 AceView cDNA sequences (see all 173):

    Z40995 AU142416 AA651824 CA424741 AI369409 BM450429 BU176533 BI770736 
    BC065525 AI870632 BC008709 AU125928 BE564161 AI869670 W86292 BU733807 
    X58199 AA055514 AI362970 H82206 AF486420 AI248103 BU620744 BM671370 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ADD2 (see all 11)    About this scheme

    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:                                                                    -                                                                                       

    ExUns: 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b
    SP1:              -                                 
    SP2:              -           -                     
    SP3:              -           -                     
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for ADD2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTTCCGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ADD2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    BrainCerebral CortexBrain
    BrainMedulla OblongataBrain
    LiverLiver LobuleLiver
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    See ADD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADD2

    SOURCE GeneReport for Unigene cluster: Hs.188528

    UniProtKB/Swiss-Prot: ADDB_HUMAN, P35612
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ADD2 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia ADD26
    --
    74(a)
    1 ↔ 1
    GL343662.1(43411-68808)
    zebrafish
    (Danio rerio)
    Actinopterygii add21 adducin 2 (beta) 63.84(n)
    63.04(a)
      570147  XM_693588.5  XP_698680.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta hts3 ring canal formation, actin assembly actin
    binding
    36(a)   56D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea add-16
    add-26
    Adducin-related protein 2
    27(a)
    20(a)
    possible ortholog
    possible ortholog
    X(4854047-4860006)
    V(12009532-12013586)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADD2 gene
    ADD12  ADD32  
    2 SIMAP similar genes for ADD2 using alignment to 6 protein entries:     ADDB_HUMAN (see all proteins):
    ADD3    ADD1

    ADD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1878 NCBI SNPs in ADD2 are shown (see all 1878    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005190111,2
    C,other70933534(+) CTCTTC/TGCTCA 10 K E mis10--------
    rs801357911,2
    --70888759(+) CTCCTC/TTGTCA 3 -- ds50010--------
    rs1181748241,2
    --70888860(+) TTCACG/ATGCTA 3 -- ds50011Minor allele frequency- A:0.01EA 120
    rs38212581,2
    C,F,H,--70888892(-) TGTCTC/GTATGA 3 -- ds500123Minor allele frequency- G:0.13NA NS EA WA 2310
    rs728996291,2
    C,--70888921(+) CCACCC/TCTGGG 3 -- ds50011Minor allele frequency- T:0.50WA 2
    rs774481401,2
    --70888955(+) AGCTGT/CTAAGA 3 -- ds50012Minor allele frequency- C:0.06CSA WA 120
    rs1383854381,2
    --70889047(+) TTATCA/CTTTTA 3 -- ds50010--------
    rs37322461,2
    C,F,A,--70889257(-) AGCACC/AGTGTC 3 -- ut3111Minor allele frequency- A:0.17NA EA WA 676
    rs728996331,2
    C,--70889324(+) CCCCAC/TGGAAG 3 -- ut311Minor allele frequency- T:0.50WA 2
    rs1439381891,2
    --70889372(+) TGTGGC/TCATTA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for ADD2 (70834750 - 70995375 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ADD2
         3 CNVs: 78587 89714 89715

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ADD2 for disorders           About GeneDecksing

    OMIM gene information: 102681    OMIM disorders: --

    18 diseases for ADD2:    About MalaCards
    dehydrated hereditary stomatocytosis    hypertension    capillariasis    endolymphatic hydrops
    elliptocytosis    spherocytosis    echolalia    hereditary elliptocytosis
    hereditary spherocytosis    exhibitionism    essential hypertension    was-related disorders
    nephropathy    proteinuria    parkinson's disease    encephalitis
    breast cancer    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for ADD2:
    Capillariasis     Exhibitionism

    5 Novoseek disease relationships for ADD2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    elliptocytosis hereditary 66.4 1 10845937 (1)
    spherocytosis hereditary 56.7 2 10485892 (1)
    essential hypertension 44.7 1 16497648 (1)
    hemolysis 19.9 1 12653680 (1)
    anemia 12.2 1 12653680 (1)

    Genetic Association Database (GAD): ADD2
    Human Genome Epidemiology (HuGE) Navigator: ADD2 (20 documents)

    Export disorders for ADD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ADD2 gene, integrated from 9 sources (see all 70):
    (articles sorted by number of sources associating them with ADD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure and domain organization of human alpha and beta adducin. (PubMed id 1840603)1, 2, 3, 9 Joshi R.L.... Bennett V.D. (1991)
    2. beta-Adducin polymorphisms, blood pressure, and sodium excretion in three European populations. (PubMed id 14553963)1, 4, 9 Tikhonoff V....Staessen J.A. (2003)
    3. Adducin regulation. Definition of the calmodulin-binding domain and sites of phosphorylation by protein kinases A and C. (PubMed id 8810272)1, 2, 9 Matsuoka Y.... Bennett V. (1996)
    4. Epistatic interaction between alpha- and gamma-adducin influences peripheral and central pulse pressures in white Europeans. (PubMed id 15834281)1, 4, 9 Cwynar M....Bianchi G. (2005)
    5. Haematological phenotypes in relation to the C1797T beta-adducin polymorphism in a Caucasian population. (PubMed id 12653680)1, 4, 9 Wang J.G....Staessen J.A. (2003)
    6. Genomic organisation and chromosomal localisation of the gene encoding human beta adducin. (PubMed id 8566798)1, 2, 9 Tisminetzky S.... Baralle F.E. (1995)
    7. Expression analysis of the human adducin gene family and evidence of ADD2 beta4 multiple splicing variants. (PubMed id 12951058)1, 2, 9 Citterio L....Barlassina C. (2003)
    8. Blood pressure phenotypes in relation to the beta-adducin C1797T polymorphism in the European Project on Genes in Hypertension (EPOGH). (PubMed id 14517477)1, 4, 9 Tikhonoff V....Staessen J.A. (2003)
    9. Association between hypertension and variation in the alpha- and beta-adducin genes in a white population. (PubMed id 12427140)1, 4, 9 Wang J.G....Bianchi G. (2002)
    10. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 119 HGNC: 244 AceView: ADD2 Ensembl:ENSG00000075340 euGenes: HUgn119
    ECgene: ADD2 H-InvDB: ADD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ADD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ADD2 gene:
    Search GeneIP for patents involving ADD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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