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ADD2 Gene

protein-coding   GIFtS: 63
GCID: GC02M070800

Adducin 2 (Beta)

  See ADD2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   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 Chromatin IP Primers for ADD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • The N-terminus is blocked1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ADD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    ADD2 Human Recombinant Protein Products:

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    OriGene MassSpec for ADD2
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    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

     
    Search eBioscience for Proteins for ADD2 

     
    antibodies-online proteins for ADD2 (5 products) 

     
    antibodies-online peptides for ADD2

    ADD2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for ADD2 (P35612, Q9UEY8)
    Cloud-Clone Corp. Antibodies for ADD2
    ThermoFisher Antibodies for ADD2
    antibodies-online antibodies for ADD2 (52 products) 

    ADD2 Assay Products:

    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
    Search eBioscience for ELISAs for ADD2 
    antibodies-online kits for ADD2 (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027773 ADD2
     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


    Find genes that share domains with ADD2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 7):    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
         
    Find genes that share ontologies with ADD2           About GenesLikeMe


    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 

    Find genes that share phenotypes with ADD2           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for ADD2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ADD2:
    hsa-mir-1301-3p (MIRT035978), hsa-mir-107 (MIRT048288)

    Block miRNA regulation of human, mouse, rat ADD2 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for ADD2
    Predesigned siRNA for gene silencing in human, mouse, rat ADD2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ADD2

    Clone
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    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

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ADD2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADD2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ADDB_HUMAN, P35612: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    nucleus3
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton ----
    GO:0005886plasma membrane IEA--
    GO:0008290F-actin capping protein complex IDA8626479
    GO:0016020membrane ----
    GO:0016023cytoplasmic membrane-bounded vesicle IDA18347014

    Find genes that share ontologies with ADD2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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

    4 Downloadable PowerPoint Slides of GeneGlobe 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



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADD2
    Interactions:

        GeneGlobe Interaction Network for ADD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for ADD2 (P356123 ENSP000002644364) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): Selected biological process terms (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

    Find genes that share ontologies with ADD2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with ADD2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat ADD2
    Clone
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    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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat 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
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADD2
      QuantiTect SYBR Green Assays in human, mouse, rat ADD2
      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 

    Selected AceView cDNA sequences (see all 173):

    BU620744 AI248103 CA424741 BU176034 BU859053 CR590670 F07824 AF486420 
    BU178973 AI870632 BC056881 BC051882 R49717 BM671370 AI869670 BU176562 
    BC010237 BC041666 AF486423 BM725296 W01222 AI362970 CA417642 AA608592 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ADD2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Metencephalon
    ADD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADD2 Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ADD2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Add21 , 5 adducin 2 (beta)1, 5 87.69(n)1
    92.84(a)1
      6 (37.55 cM)5
    115191  NM_001271857.11  NP_001258786.11 
     860780845 
    chicken
    (Gallus gallus)
    Aves ADD26
    adducin 2 (beta)
    73(a)
    1 ↔ 1
    22(2947916-2952490) ENSGALG00000026948
    lizard
    (Anolis carolinensis)
    Reptilia ADD26
    adducin 2 (beta)
    75(a)
    1 ↔ 1
    GL343662.1(43411-68853)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia add21 adducin 2 (beta) 73.95(n)
    77.44(a)
      100125042  NM_001102963.1  NP_001096433.1 
    zebrafish
    (Danio rerio)
    Actinopterygii add21 adducin 2 (beta) 64.63(n)
    63.76(a)
      570147  XM_693588.6  XP_698680.6 
    fruit fly
    (Drosophila melanogaster)
    Insecta hts3 ring canal formation, actin assembly
    actin binding
    36(a)   56D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea add-16
    add-26
    Protein ADD-2, isoform a
    28(a)
    23(a)
    many ↔ many
    many ↔ many
    X(4854077-4860036) WBGene00000072
    V(12009551-12013605) WBGene00000073


    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)
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    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

    Find genes that share paralogs with ADD2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ADD2 (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

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 102681    OMIM disorders: --

    7 diseases for ADD2:    
    About MalaCards
    capillariasis    exhibitionism    dehydrated hereditary stomatocytosis    endolymphatic hydrops
    hereditary elliptocytosis    chorea-acanthocytosis    hypertension

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

    Find genes that share disorders with ADD2           About GenesLikeMe

    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)
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    PubMed articles for ADD2 gene, integrated from 10 sources (see all 74):
    (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. (J. Cell Biol. 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. (J. Mol. Med. 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. (Diabet. Med. 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. (Am. J. Hypertens. 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. (J. Biol. Chem. 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. (BMC Med. Genet. 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. (Am. J. Hypertens. 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. (J. Hypertens. 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. (Clin. Sci. 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. (Gene 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 119 HGNC: 244 AceView: ADD2 Ensembl:ENSG00000075340 euGenes: HUgn119
    ECgene: ADD2 H-InvDB: ADD2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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