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

TNFRSF13C Gene

protein-coding   GIFtS: 64
GCID: GC22M042321

Tumor Necrosis Factor Receptor Superfamily, Member 13C

  See 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)
About This Section

Aliases
Tumor Necrosis Factor Receptor Superfamily, Member 13C1 2     BROMIX2
BAFFR2 3 5     CD2682
BAFF-R2 3     B Cell-Activating Factor Receptor2
B-Cell-Activating Factor Receptor2 3     prolixin2
BAFF Receptor2 3     Tumor Necrosis Factor Receptor Superfamily Member 13C2
BLyS Receptor 32 3     BR33
CVID42 5     CD268 Antigen3

External Ids:    HGNC: 177551   Entrez Gene: 1156502   Ensembl: ENSG000001599587   OMIM: 6062695   UniProtKB: Q96RJ33   

Export aliases for TNFRSF13C gene to outside databases

Previous GC identifers: GC22M038935 GC22M040564 GC22M040645 GC22M025286


(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 TNFRSF13C Gene:
B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell
population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus
erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been
proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by
enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a
type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this
receptor is the principal receptor required for BAFF-mediated mature B-cell survival. (provided by RefSeq, Jul
2008)

GeneCards Summary for TNFRSF13C Gene: 
TNFRSF13C (tumor necrosis factor receptor superfamily, member 13C) is a protein-coding gene. Diseases associated with TNFRSF13C include chronic graft versus host disease, and common variable immune deficiency, and among its related super-pathways are TNF Signaling and STAT3 Pathway.

UniProtKB/Swiss-Prot: TR13C_HUMAN, Q96RJ3
Function: B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the
B-cell response

Gene Wiki entry for TNFRSF13C 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_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TNFRSF13C gene promoter:
         USF1   p53   Sp1   AP-1   USF-1   ATF-2   SEF-1 (1)   c-Jun   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNFRSF13C promoter sequence
   Search SABiosciences Chromatin IP Primers for TNFRSF13C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TNFRSF13C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1-q13.31   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.1-q13.3

TNFRSF13C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNFRSF13C gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M042321:  view genomic region     (about GC identifiers)

Start:
42,321,036 bp from pter      End:
42,322,822 bp from pter
Size:
1,787 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: TR13C_HUMAN, Q96RJ3 (See protein sequence)
Recommended Name: Tumor necrosis factor receptor superfamily member 13C  
Size: 184 amino acids; 18864 Da
Subcellular location: Membrane; Single-pass type III membrane protein (Probable)
5 PDB 3D structures from and Proteopedia for TNFRSF13C:
1MPV (3D)        1OQE (3D)        1OSX (3D)        1P0T (3D)        2HFG (3D)    
Alternative splicing: 2 isoforms:  Q96RJ3-1   Q96RJ3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TNFRSF13C: NX_Q96RJ3

Explore proteomics data for TNFRSF13C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96RJ3

  • TNFRSF13C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TNFRSF13C Protein Expression
    REFSEQ proteins: NP_443177.1  
    ENSEMBL proteins: 
     ENSP00000291232  

    Human Recombinant Protein Products for TNFRSF13C: 
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    OriGene Protein Over-expression Lysate for TNFRSF13C
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    Novus Biologicals TNFRSF13C Proteins
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    Sino Biological Recombinant Protein for TNFRSF13C
    Sino Biological Cell Lysate for TNFRSF13C 
    ProSpec Recombinant Protein for TNFRSF13C
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009897external side of plasma membrane IEA--
    GO:0016021integral to membrane IEA--

    TNFRSF13C for ontologies           About GeneDecksing



    TNFRSF13C Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for TNFRSF13C 

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules
    TNFRSF: Tumor necrosis factor receptor superfamily

    IUPHAR Guide to PHARMACOLOGY protein family classification: BAFF receptor 
    Tumour necrosis factor (TNF) receptor family

    2 InterPro protein domains:
     IPR022338 TNFR_13C
     IPR015336 TNFR_13C_TALL-1-bd

    Graphical View of Domain Structure for InterPro Entry Q96RJ3

    ProtoNet protein and cluster: Q96RJ3

    1 Blocks protein domain: IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

    UniProtKB/Swiss-Prot: TR13C_HUMAN, Q96RJ3
    Similarity: Contains 1 TNFR-Cys repeat


    TNFRSF13C 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: TR13C_HUMAN, Q96RJ3
    Function: B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the
    B-cell response

    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tnfrsf13c):

     cellular  hematopoietic system  homeostasis/metabolism  immune system 

    TNFRSF13C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TNFRSF13C: Tnfrsf13ctm1Msc Tnfrsf13ctm1Mass

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TNFRSF13C 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TNFRSF13C

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TNFRSF13C 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TNFRSF13C 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TNFRSF13C:
    hsa-miR-142-3p
    SwitchGear 3'UTR luciferase reporter plasmidTNFRSF13C 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: TNFRSF13C (NM_052945)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF13C


    (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 TNFRSF13C About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1TNF Signaling
    TNF Signaling0.50
    TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions0.49
    Death Receptor Signaling0.50
    NF-kB (NFkB) Pathway0.46
    2PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    Glucocorticoid Receptor Signaling0.43
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    3BAFF in B-Cell Signaling
    BAFF in B-Cell Signaling0.92
    Apoptosis and survival APRIL and BAFF signaling0.39
    4Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JNK Pathway0.51
    JAK-STAT Pathway0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TNFRSF13C
        Apoptosis and survival APRIL and BAFF signaling

    1 R&D Systems Pathway for TNFRSF13C
        TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions

    5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TNFRSF13C (see all 14)
        STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Glucocorticoid Receptor Signaling
    JAK-STAT Pathway

    1 GeneGo (Thomson Reuters) Pathway for TNFRSF13C
        Apoptosis and survival APRIL and BAFF signaling

    3 Sino Biological Pathways for TNFRSF13C 
        TNF Signaling
    Death Receptor Signaling
    NF-kB (NFkB) Pathway


    5         Kegg Pathways  (Kegg details for TNFRSF13C):
        Cytokine-cytokine receptor interaction
    NF-kappa B signaling pathway
    Intestinal immune network for IgA production
    HTLV-I infection
    Primary immunodeficiency


    TNFRSF13C for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TNFRSF13C

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for TNFRSF13C (Q96RJ33 ENSP000002912324) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFSF13BQ9Y2753, ENSP000003650484I2D: score=3 STRING: ENSP00000365048
    TRAF3Q131143, ENSP000003324684I2D: score=2 STRING: ENSP00000332468
    TRAF1Q130773I2D: score=1 
    TRAF3IP2O437343I2D: score=1 
    IGHG1ENSP000003749904STRING: ENSP00000374990
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001782B cell homeostasis IEA--
    GO:0002636positive regulation of germinal center formation IEA--
    GO:0030890positive regulation of B cell proliferation IEA--
    GO:0031295T cell costimulation IEA--
    GO:0031296B cell costimulation IEA--

    TNFRSF13C 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

    TNFRSF13C for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TNFRSF13C (TR13C)

    1 IUPHAR Ligand for TNFRSF13C (BAFF receptor)    About this table 
    LigandTypeActionAffinityPubmed IDs
    BAFF
    NoneNone--

    3 Novoseek inferred chemical compound relationships for TNFRSF13C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bcma 98.6 111 15697217 (5), 20097906 (4), 11827482 (3), 12721620 (3) (see all 55)
    blys 96.8 88 17069785 (3), 18434450 (2), 14512299 (2), 16160919 (2) (see all 29)
    calcium 1.14 10 17444957 (1), 14978135 (1), 15908449 (1), 17267661 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about TNFRSF13C / TR13C

    (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 TNFRSF13C gene: 
    NM_052945.3  

    Unigene Cluster for TNFRSF13C:

    Tumor necrosis factor receptor superfamily, member 13C
    Hs.344088  [show with all ESTs]
    Unigene Representative Sequence: NM_052945
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000291232(uc003bbl.2 uc010gyp.1)
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TNFRSF13C:
    hsa-miR-142-3p
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TNFRSF13C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNFRSF13C

    Additional mRNA sequence: 

    AF373846.1 BC105123.1 BC112030.1 

    1 DOTS entry:

    DT.75157341 

    6 AceView cDNA sequences:

    AW236483 AI250289 AX800072 NM_052945 AF373846 AX772914 

    GeneLoc Exon Structure


    (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

    TNFRSF13C expression in normal human tissues (normalized intensities)      TNFRSF13C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTTTGGTG
    TNFRSF13C Expression
    About this image


    TNFRSF13C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand (Gastrointestinal Tract)
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             CD19+ B Cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node ; non-germinal center cells   
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             spleen ; cells in white pulp   
             appendix ; lymphoid tissue   

    See TNFRSF13C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TNFRSF13C

    SOURCE GeneReport for Unigene cluster: Hs.344088

    UniProtKB/Swiss-Prot: TR13C_HUMAN, Q96RJ3
    Tissue specificity: Highly expressed in spleen and lymph node, and in resting B-cells. Detected at lower levels in
    activated B-cells, resting CD4+ T-cells, in thymus and peripheral blood leukocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including TNFRSF13C: 
              TNF Ligands & Receptors in human mouse rat
              T-cell & B-cell Activation in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TNFRSF13C
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF13C

    (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 human and mouse.

    Orthologs for TNFRSF13C gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnfrsf13c1 , 5 tumor necrosis factor receptor superfamily, member more1, 5 69.9(n)1
    61.21(a)1
      15 (38.56 cM)5
    720491  NM_028075.21  NP_082351.11 
     822217445 


    ENSEMBL Gene Tree for TNFRSF13C (if available)
    TreeFam Gene Tree for TNFRSF13C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/76 SNPs in TNFRSF13C are shown (see all 76)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638904
    ----see VAR_0638902 H Y mis40--------
    VAR_0638884
    ----see VAR_0638882 G V mis40--------
    rs617567661,2
    C,F--42321451(+) ACTGTG/AGCCAG 2 /H /Y mis12Minor allele frequency- A:0.01NA EU 5365
    rs1512432011,2
    C,F--42321490(+) AGGAGG/ACCAGG 2 /P /S mis11Minor allele frequency- A:0.00NA 4542
    rs1404068341,2
    C--42321521(+) ATTCCC/TGGAGA 2 P syn11Minor allele frequency- T:0.00NA 4544
    rs2018927601,2
    C--42321571(+) CAGAGA/C/GGGGTA 1 -- int11EU 905
    rs2010715891,2
    C--42321584(+) GGCTCC/TGTACT 1 -- int10--------
    rs59960871,2
    C,F,A,H--42321591(+) TACTCA/GGTCAC 1 -- int118Minor allele frequency- G:0.17NS EA NA CSA WA 2510
    rs1481209501,2
    --42321644(+) TCCTCC/TGTCAA 1 -- int10--------
    rs734326161,2
    C,F--42321647(+) TCCGTC/TAAATG 1 -- int13Minor allele frequency- T:0.06WA 122

    HapMap Linkage Disequilibrium report for TNFRSF13C (42321036 - 42322822 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TNFRSF13C:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508736CNV Insertion20534489
    dgv4980n71CNV Loss21882294
    dgv4979n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): TNFRSF13C
    SABiosciences Cancer Mutation PCR Assays
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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: 606269   
    OMIM disorders: 613494  
    UniProtKB/Swiss-Prot: TR13C_HUMAN, Q96RJ3
  • Immunodeficiency, common variable, 4 (CVID4) [MIM:613494]: A primary immunodeficiency characterized by
    antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody
    response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of
    immunoglobulins; the numbers of circulating B cells is usually in the normal range, but can be low. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/39 diseases for TNFRSF13C (see all 39):    About MalaCards
    chronic graft versus host disease    common variable immune deficiency    tnfrsf13c-related common variable immune deficiency    b cell deficiency
    common variable immunodeficiency    t cell deficiency    central nervous system lymphoma    trypanosomiasis
    waldenstrom macroglobulinemia    macroglobulinemia    lupus erythematosus    systemic lupus erythematosus
    non-hodgkin lymphoma    multiple myeloma    hodgkin's lymphoma    kawasaki disease
    primary biliary cirrhosis    diffuse large b-cell lymphoma    behcet's disease    myasthenia gravis

    1 disease from the University of Copenhagen DISEASES database for TNFRSF13C:
    Common variable immunodeficiency

    TNFRSF13C for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for TNFRSF13C gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    antibody deficiency syndrome 81.1 1 19666484 (1)
    common variable immunodeficiency 73.3 3 16160919 (2), 16264328 (1)
    autoimmune diseases 66.6 5 16226112 (1), 19258594 (1), 17185325 (1), 16187941 (1) (see all 5)
    necrosis 61.5 18 16264328 (2), 18064389 (1), 18775026 (1), 15908449 (1) (see all 14)
    lupus erythematosus systemic 60.8 2 17185325 (1), 20097906 (1)
    lymphoma b-cell 47.9 10 19207947 (3)
    autoimmunity 47 1 15585864 (1)
    lymphoma 43.7 4 15642740 (1), 19207947 (1), 11747837 (1)
    lymphoma follicular 43.2 2 19207947 (1)
    tumors 40.9 14 18064389 (1), 18775026 (1), 19291294 (1), 15908449 (1) (see all 12)

    GeneTests: TNFRSF13C
    GeneReviews: TNFRSF13C
    Genetic Association Database (GAD): TNFRSF13C
    Human Genome Epidemiology (HuGE) Navigator: TNFRSF13C (7 documents)

    Export disorders for TNFRSF13C 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 TNFRSF13C gene, integrated from 9 sources (see all 154):
    (articles sorted by number of sources associating them with TNFRSF13C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. (PubMed id 16160919)1, 2, 4, 9 Losi C.G....Plebani A. (2005)
    2. BAFF-R, a newly identified TNF receptor that specifically interacts with BAFF. (PubMed id 11509692)1, 2, 3 Thompson J.S....Ambrose C. (2001)
    3. BAFF/BLyS receptor 3 comprises a minimal TNF receptor-like module that encodes a highly focused ligand-binding site. (PubMed id 12755599)1, 2, 9 Gordon N.C....Starovasnik M.A. (2003)
    4. Crystal structure of the BAFF-BAFF-R complex and its implications for receptor activation. (PubMed id 12715002)1, 2, 9 Kim H.M.... Lee J.-O. (2003)
    5. Ligand-receptor binding revealed by the TNF family member TALL-1. (PubMed id 12721620)1, 2, 9 Liu Y.... Zhang G. (2003)
    6. B-cell activating factor receptor deficiency is assoc iated with an adult-onset antibody deficiency syndrome in humans. (PubMed id 19666484)1, 2, 9 Warnatz K....Eibel H. (2009)
    7. Common single nucleotide polymorphisms in immunoregul atory genes and multiple myeloma risk among women in Connecticut. (PubMed id 20568250)1, 4 Lee K.M....Lan Q. (2010)
    8. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (2009)
    9. Common genetic variants in candidate genes and risk o f familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (2009)
    10. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 115650 HGNC: 17755 AceView: TNFRSF13C Ensembl:ENSG00000159958 euGenes: HUgn115650
    ECgene: TNFRSF13C Kegg: 115650 H-InvDB: TNFRSF13C

    (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 TNFRSF13C Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TNFRSF13C Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF13C

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TNFRSF13C gene:
    Search GeneIP for patents involving TNFRSF13C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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