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FLASH GENE
Symbol TNFRSF13C contributors: - updated : 16-06-2007
HGNC name tumor necrosis factor receptor superfamily, member 13C
HGNC id 17755
Corresponding disease
CVID4 common variable immunodeficiency 4
Location 22q13.2      Physical location : 42.321.035 - 42.322.821
Synonym name
  • B cell activating factor receptor
  • BLyS receptor 32
  • CD268 antigen
  • BAFF receptor
  • Synonym symbol(s) BAFFR, CD268, BAFF-R, MGC138235
    DNA
    TYPE functioning gene
    STRUCTURE 1.79 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    TEF 22q13.1 thyrotrophic embryonic factor TOB2 22q13.2 transducer of ERBB2, 2 PHF5A 22q13.3 PHD finger protein 5A ACO2 22q13.1 aconitase 2, mitochondrial RPC8 22q13.2 RNA polymerase III subunit RPC8 PIPPIN 22q13.2-q13.31 RNA-binding protein pippin PMM1 22q13.2 phosphomannomutase 1 D15Wsu75e 22q13.2 DNA segment, Chr 15, Wayne State University 75, expressed G22P1 22q13.1 thyroid autoantigen 70kDa (Ku antigen) NHP2L1 22q13.2-q13.1 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) FLJ23584 22q13.2 hypothetical protein FLJ23584 HMG17L2 22q13.2 high-mobility group (nonhistone chromosomal) protein 17-like 2 MGC40042 22q13.2 hypothetical protein MGC40042 FLJ22349 22q13.2 hypothetical protein FLJ22349 SREBF2 22q13.2 sterol regulatory element binding transcription factor 2 TNFRSF13C 22q13.1-q13.31 tumor necrosis factor receptor superfamily, member 13C C22orf18 22q13.2-q13.31 chromosome 22 open reading frame 18 SEPT3 22q13.2 septin 3 MGC26816 22q13.31 hypothetical protein MGC26816 NAGA 22q13.2 N-acetylgalactosaminidase, alpha- LOC150368 22q13.31 hypothetical protein LOC150368 LOC91689 22q13.31 hypothetical gene supported by AL449243 NDUFA6 22q13.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa LOC246785 22q13.2 PTD004 pseudogene CYP2D8P2 22q11.22-q11.23 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2 CYP2D8P1 22q13.2-q13.31 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1 TCF20 22q13.3 transcription factor 20 (AR1) LOC388906 22 hypothetical gene supported by BC039496 LOC150371 22q13.31 hypothetical LOC150371 NFAM1 22q13.31 NFAT activation molecule 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 934 - 184 - -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
     thymus   lowly
    Lymphoid/Immunelymph node    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cysteine rich domain with four cysteine residues
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type II transmembrane protein
    basic FUNCTION specific TNFSF13C receptor required for BAFF-mediated mature B cell survival and for generating an effective T cell dependent immune response
    CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • specifically binds TNFSF13B (BAFF), a protein belonging to the tumor necrosis factor (TNF) family, and involved in survival and maturation of B cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CVID4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in B-cell lymphomas, but often absent in grade 3 follicular lymphomas and diffuse large B-cell lymphomas
    Susceptibility to systemic lupus erythematosis (SLE)
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    disrupted in A/WySnJ mice (BAFF deficient phenotype)