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FLASH GENE
Symbol SSBP2 contributors: mct/pgu - updated : 01-02-2014
HGNC name single-stranded DNA binding protein 2
HGNC id 15831
Location 5q14.1      Physical location : 80.715.672 - 81.047.072
Synonym name
  • sequence-specific single-stranded-DNA-binding protein 2
  • Synonym symbol(s) HSPC116, DKFZp686F03273, SSDP2
    DNA
    TYPE functioning gene
    STRUCTURE 331.40 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 1948 37.7 361 - 2005 15782145
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunethymus   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver, thymus
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a LISH domain, playing an important role in dimerization of PAFAH1B1
  • HOMOLOGY
    interspecies homolog to highly to murine Ssbp2
    Homologene
    FAMILY
  • SSBP family
  • CATEGORY DNA associated , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • regulator of hematopoietic growth and differentiation, whose loss confers a block in differentiation advantage to myeloid leukemic cells
  • capable of potential tumor suppressor activity by gene dosage or other epigenetic mechanisms
  • novel regulator of hematopoietic growth and differentiation, whose loss confers a block in differentiation advantage to myeloid leukemic cells
  • may be playing an important role in transcriptional regulation
  • may play a critical role in leukemia pathogenesis
  • critical tumor suppressor in B lymphoid neoplasms
  • plays a role similar to SSBP1 in DNA damage-response pathways
  • SSBP1 and SSBP2 form two separate complexes with similar structures, and both are required for efficient homologous recombination (HR)-dependent repair of DSBs and ATM-dependent signaling pathways
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SSBP1 and SSBP2 form separate complexes with two identical proteins, INTS3 and C9ORF80
  • bind and stabilize transcriptional cofactor LDB1 from proteosomal degradation to promote tissue-specific transcription through an evolutionarily conserved pathway
  • SSBP2, SSBP3 control LMO4 and LDB1 protein abundance in a cancer context
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in acute myelogenous leukemia
    tumoral fusion      
    with JAK2 in a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Ssbp2 null mice exhibit enhanced predisposition to lymphomas and carcinomas