Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ADD2 contributors: mct - updated : 27-11-2013
HGNC name adducin 2 (beta)
HGNC id 244
Location 2p13.3      Physical location : 70.889.215 - 70.995.375
Synonym name
  • erythrocyte adducin subunit beta
  • Synonym symbol(s) ADDB
    DNA
    TYPE functioning gene
    STRUCTURE 107.04 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif Viral sequence   gene pol
    text structure
  • has a very tight regulation of alternative polyadenylation
  • MAPPING cloned Y linked N status confirmed
    Physical map
    ANXA4 2p13 annexin A4 FLJ13057 2p13.3 hypothetical protein FLJ13057 similar to germ cell-less RY1 2p13.3 putative nucleic acid binding protein RY-1 MAD 2p12 MAX dimerization protein 1 FLJ25084 2p13.3 hypothetical protein FLJ25084 PCBP1 2p13-p12 poly(rC) binding protein 1 LOC151518 2p13.3 hypothetical LOC151518 MRPL36P1 2p13.2 hypothetical LOC151518 FLJ20558 2p13.3 hypothetical protein FLJ20558 TIA1 2p13 TIA1 cytotoxic granule-associated RNA binding protein PCYOX1 2p13.3 prenylcysteine oxidase 1 SNRPG 2p12 small nuclear ribonucleoprotein polypeptide G FLJ14668 2p13.3 hypothetical protein FLJ14668 TGFA 2p13 transforming growth factor, alpha ADD2 2p14-p13 adducin 2 (beta) CLECSF13 2p13.3 likely ortholog of mouse C-type (calcium dependent, carbohydrate recognition domain) lectin, superfamily member 13 CD207 2p13 CD207 antigen, langerin VAX2 2p13.3 ventral anterior homeobox 2 ATP6V1B1 2p13 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness) FLJ12056 2p13.2 hypothetical protein FLJ12056 TEX261 2p13.2 testis expressed gene 261 LOC115131 2p13.2 similar to POSSIBLE GUSTATORY RECEPTOR CLONE PTE01 OR7E91P 2p12 olfactory receptor, family 7, subfamily E, member 91 pseudogene OR7E62P 2p12 olfactory receptor, family 7, subfamily E, member 62 pseudogene NAGK 2p13 N-acetylglucosamine kinase MCEE 2p12 methylmalonyl CoA epimerase MPHOSPH10 2p12 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) LOC391386 2 similar to KIAA1155 protein NP220 2p13 similar to KIAA1155 protein DYSF 2p13.3-p13.1 dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
    RNA
    TRANSCRIPTS type messenger
    text ADD2 beta 1, principal expression tissue specific variable of AT
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 4033 - 726 highest expression in brain, fetal liver, and kidney 2003 12951058
  • AAD2 beta-1
  • by passing exons 13b and 15
  • 13 splicing 3826 - 559 ? 2003 12951058
  • AAD2 beta-2
  • excluding exons 14 and 17
  • - splicing 3014 - 420 ? 2003 12951058
    by passing exons 7b-12a, exons 13b, 15
    - splicing 1058 - 258 ? 2003 12951058
    by passing exons 7b-12a, excluding exons 14-17
    17 splicing 4119 - 643 highest expression in brain, fetal liver, and kidney 2003 12951058
  • AAD2 beta-4
  • by passing exon 13b
  • an in-frame insertion of 21 nucleotides upstream exon 15 predicting a 7 amino acids longer protein with a similar C-terminus region
  • 16 splicing 3787 - 726 ? 2003 12951058
    AAD2 beta-5a
    12 splicing 3707 - 575 - 2003 12951058
    AAD2 beta-6a
    - splicing 1833 - 246 - 2003 12951058
    ,
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietic     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte Homo sapiens
    Blood/Hematopoieticleukocyte Homo sapiens
    Blood/Hematopoieticplatelet Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal globular protease-resistent domain
  • a potential protein kinase C phosphorylation site
  • a calmodulin binding site
  • a C terminus homolog to MARCKS proteins
  • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • mRNA encoding beta-adducin is also located in dendrites
  • basic FUNCTION
  • adducin beta, actin accessory protein, calmodulin binding protein, promoting association of spectrin with actin and caping the fast growing end of actin filaments
  • very high levels of expression in erythropoiesis suggest that its promoter may be useful for directing erythroid-specific gene expression
  • is required for stable assembly of new synapses and improved memory upon environmental enrichment
  • ACTB and ADD2 are membrane cytoskeletal proteins, involved in synaptic function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of the erythrocyte membrane skeleton
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with the SH2 domain of FYN (translocation under plasma membrane)
  • VPS13A interacts with beta-adducin (ADD2) and beta-actin (ACTB)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    result in damage to renal artery myogenic tone and this is associated with renal damage as manifest by proteinuria
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • beta-adducin (Add2) KO mice show synaptic plasticity, motor coordination and behavioral deficits accompanied by changes in the expression and phosphorylation levels of the alpha- and gamma-adducin subunits