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

ADD2 Gene

protein-coding   GIFtS: 63
GCID: GC02M070800

Adducin 2 (Beta)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Adducin 2 (Beta)1 2
Erythrocyte Adducin Subunit Beta2 3
ADDB2 3
beta-adducin2

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 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 echolalia, and capillariasis, and among its related super-pathways are Activation of cAMP-Dependent PKA and Regulation of Water Balance by Renal Aquaporins. GO annotations related to this gene include actin binding and protein homodimerization activity. An important paralog of this gene is ADD1.

UniProtKB/Swiss-Prot: ADDB_HUMAN, P35612
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 Wiki entry for ADD2 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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. Found in a complex with ADD2, DMTN and SLC2A1. Interacts with
SLC2A1
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

Explore proteomics data for ADD2 at MOPED 

Post-translational modifications:

  • UniProtKB: The N-terminus is blocked
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35612

  • ADD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADD2 Protein Expression
    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   ENSP00000347972   ENSP00000430243  
     ENSP00000414546   ENSP00000388072   ENSP00000398112   ENSP00000412357   ENSP00000412681  
     ENSP00000403722  

    Human Recombinant Protein Products for ADD2: 
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    OriGene Purified Proteins for ADD2
    OriGene Protein Over-expression Lysate for ADD2
    OriGene MassSpec for ADD2 
    OriGene Custom Protein Services for ADD2
    GenScript Custom Purified and Recombinant Proteins Services for ADD2
    Novus Biologicals ADD2 Protein
    Novus Biologicals ADD2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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:0005886plasma membrane IEA--
    GO:0008290F-actin capping protein complex IDA8626479
    GO:0016020membrane ----
    GO:0016023cytoplasmic membrane-bounded vesicle IDA18347014

    ADD2 for ontologies           About GeneDecksing



    ADD2 Antibody Products: 
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    Novus Biologicals ADD2 Antibodies
    Abcam antibodies for ADD2
    Cloud-Clone Corp. Antibodies for ADD2 
    ThermoFisher Antibodies for ADD2
    LSBio Antibodies in human, mouse, rat for ADD2 

    Assay Products for ADD2: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ADD2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ADD2 
    Cloud-Clone Corp. CLIAs for ADD2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001303 Aldolase_II/adducin_N

    Graphical View of Domain Structure for InterPro Entry P35612

    ProtoNet protein and cluster: P35612

    1 Blocks protein domain: 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


    ADD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADDB_HUMAN, P35612
    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

         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

         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


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

         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

    Animal Models:
         MGI mouse knock-outs for ADD2: Add2tm1Feb Add2tm1Llp

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ADD2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ADD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADD2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADD2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADD2
    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate ADD2 (see all 38):
    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*
    SwitchGear 3'UTR luciferase reporter plasmidADD2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ADD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADD2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ADD2
    Sirion Biotech Customized adenovirus for overexpression of ADD2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ADD2 (see all 31)
    OriGene ORF clones in mouse, rat for ADD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ADD2 (NM_017482)
    Sino Biological Human cDNA Clone for ADD2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADD2
    Sirion Biotech Customized lentivirus for stable overexpression of ADD2 
                         Customized lentivirus expression plasmids for stable overexpression of ADD2 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ADD2
    Search LifeMap BioReagents cell lines for ADD2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADD2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ADD2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    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:0006461protein complex assembly IDA18347014
    GO:0030036actin cytoskeleton organization IC3693401
    GO:0030097hemopoiesis IEA--
    GO:0032092positive regulation of protein binding IDA3693401
    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, Ligands according to IUPHAR, 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 (ADDB)

    4 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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) ENST00000355733(uc010fdt.2) ENST00000481675
    ENST00000522886 ENST00000456320 ENST00000413157(uc002shc.2 uc010fdu.2)
    ENST00000430656 ENST00000415348 ENST00000425976 ENST00000447731 ENST00000473232
    ENST00000496178

    miRNA
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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate ADD2 (see all 38):
    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*
    SwitchGear 3'UTR luciferase reporter plasmidADD2 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for ADD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADD2
    Clone
    Products:
         
    OriGene clones in human, mouse for ADD2 (see all 31)
    OriGene ORF clones in mouse, rat for ADD2
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    GenScript: all cDNA clones in your preferred vector (see all 5): ADD2 (NM_017482)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADD2
    Sirion Biotech Customized lentivirus for stable overexpression of ADD2 
                         Customized lentivirus expression plasmids for stable overexpression of ADD2 
    Primer
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    OriGene qPCR primer pairs and template standards for ADD2
    OriGene qSTAR qPCR primer pairs in human, mouse for ADD2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADD2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADD2

    Additional mRNA 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):

    BC051882 X58199 CA417642 BU176562 Z40995 AA745298 BM692808 AA055514 
    BM725296 BC010237 BC065525 AU125928 AI248103 AA651824 BI770736 BM450429 
    BU859053 R49717 AA608592 H82206 AI870632 BU176034 BM680020 AF486420 

    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)      ADD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTTCCGTG
    ADD2 Expression
    About this image


    ADD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             ganglion/cranial/vagus X   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
             brain/midbrain/lateral wall   
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Liver (Hepatobiliary System)
             Liver Lobule

    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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    (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 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Add21 , 5 adducin 2 (beta)1, 5 87.64(n)1
    92.95(a)1
      6 (37.55 cM)5
    115191  NM_013458.41  NP_038486.21 
     860780845 
    chicken
    (Gallus gallus)
    Aves ADD26
    adducin 2 (beta)
    73(a)
    1 ↔ 1
    22(2947916-2952490)
    lizard
    (Anolis carolinensis)
    Reptilia ADD26
    Uncharacterized protein
    75(a)
    1 ↔ 1
    GL343662.1(43411-68853)
    zebrafish
    (Danio rerio)
    Actinopterygii add21 adducin 2 (beta) 63.84(n)
    63.04(a)
      570147  XM_693588.5  XP_698680.5 
    worm
    (Caenorhabditis elegans)
    Secernentea add-26
    Adducin-related protein 2
    19(a)
    possible ortholog
    V(12009551-12013605)


    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, 4UniProtKB, 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

    10/2265 SNPs in ADD2 are shown (see all 2265)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005190111,2
    Cuntested170799492(+) CTCTTC/TGCTCA 10 K E mis10--------
    rs1809809961,2
    --70734227(+) TTAAGC/TGATTC 4 -- int10--------
    rs801357911,2
    --70754715(+) CTCCTC/TTGTCA 3 -- ds50010--------
    rs1181748241,2
    F--70754816(+) TTCACG/ATGCTA 3 -- ds50011Minor allele frequency- A:0.01EA 120
    rs38212581,2
    C,F,H--70754848(-) TGTCTC/GTATGA 3 -- ds500123Minor allele frequency- G:0.13NA NS EA WA 2310
    rs728996291,2
    C,F--70754877(+) CCACCC/TCTGGG 3 -- ds50011Minor allele frequency- T:0.50WA 2
    rs774481401,2
    F--70754911(+) AGCTGT/CTAAGA 3 -- ds50012Minor allele frequency- C:0.06CSA WA 120
    rs1383854381,2
    --70755003(+) TTATCA/CTTTTA 3 -- ds50010--------
    rs37322461,2
    C,F,A--70755213(-) AGCACC/AGTGTC 3 -- ut3111Minor allele frequency- A:0.17NA EA WA 676
    rs728996331,2
    C--70755280(+) CCCCAC/TGGAAG 3 -- ut311Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for ADD2 (70834750 - 70995375 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ADD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659183CNV Deletion23128226
    nsv2770CNV Insertion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 102681    OMIM disorders: --

    17 diseases for ADD2:    About MalaCards
    echolalia    capillariasis    dehydrated hereditary stomatocytosis    exhibitionism
    endolymphatic hydrops    hereditary elliptocytosis    hypertension    essential hypertension
    was-related disorders    proteinuria    encephalitis    type 1 diabetes
    parkinson's disease    anemia    endotheliitis    breast cancer
    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for ADD2:
    Capillariasis     Gilles de la Tourette syndrome     Exhibitionism

    ADD2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred 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 72):
    (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. alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy. (PubMed id 19838659)1, 4, 9 Ferrandi M....Bianchi G. (2010)
    3. Investigation of Adducin 2 (beta) DNA polymorphisms in genetic predisposition to diabetic nephropathy in Type 1 diabetes. (PubMed id 18959617)1, 4, 9 Currie D....McKnight A.J. (2008)
    4. beta-Adducin polymorphisms, blood pressure, and sodium excretion in three European populations. (PubMed id 14553963)1, 4, 9 Tikhonoff V....Staessen J.A. (2003)
    5. 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)
    6. Interactions between the adducin 2 gene and antihypertensive drug therapies in determining blood pressure in people with hypertension. (PubMed id 17854487)1, 4, 9 Kardia S.L....Turner S.T. (2007)
    7. Arterial properties in relation to genetic variations in the adducin subunits in a white population. (PubMed id 18787518)1, 4, 9 Seidlerova J....Bianchi G. (2009)
    8. 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)
    9. 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)
    10. Genomic organisation and chromosomal localisation of the gene encoding human beta adducin. (PubMed id 8566798)1, 2, 9 Tisminetzky S.... Baralle F.E. (1995)

    (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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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