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TNFRSF13B Gene

protein-coding   GIFtS: 68
GCID: GC17M016832

Tumor Necrosis Factor Receptor Superfamily, Member 13B

  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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Tumor Necrosis Factor Receptor Superfamily, Member 13B1 2     RYZN2
TACI2 3 5     TNFRSF14B2
Transmembrane Activator And CAML Interactor2 3     Tumor Necrosis Factor Receptor 13B2
CVID22 5     Tumor Necrosis Factor Receptor Superfamily Member 13B2
CD2672     CD267 Antigen3
CVID2     

External Ids:    HGNC: 181531   Entrez Gene: 234952   Ensembl: ENSG000002405057   OMIM: 6049075   UniProtKB: O148363   
ORGUL members:         

Export aliases for TNFRSF13B gene to outside databases

Previous GC identifers: GC17M017204 GC17M017953 GC17M016785 GC17M017042 GC17M016783 GC17M016595


(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 TNFRSF13B Gene:
The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor
superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of
the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting
with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. (provided by
RefSeq, Jul 2008)

GeneCards Summary for TNFRSF13B Gene:
TNFRSF13B (tumor necrosis factor receptor superfamily, member 13B) is a protein-coding gene. Diseases associated with TNFRSF13B include tnfrsf13b-related common variable immune deficiency, and immunoglobulin a deficiency 2. GO annotations related to this gene include receptor activity.

UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836
Function: Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high
affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1.
Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity

Gene Wiki entry for TNFRSF13B 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:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TNFRSF13B gene promoter:
         POU2F1   AP-1   POU2F1a   ATF-2   FOXD1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TNFRSF13B promoter sequence
   Search Chromatin IP Primers for TNFRSF13B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TNFRSF13B


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

TNFRSF13B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNFRSF13B gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M016832:  view genomic region     (about GC identifiers)

Start:
16,832,849 bp from pter      End:
16,875,432 bp from pter
Size:
42,584 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836 (See protein sequence)
Recommended Name: Tumor necrosis factor receptor superfamily member 13B  
Size: 293 amino acids; 31816 Da
Subunit: Binds TRAF2, TRAF5 and TRAF6. Binds the NH2-terminal domain of CAMLG with its C-terminus
2 PDB 3D structures from and Proteopedia for TNFRSF13B:
1XU1 (3D)        1XUT (3D)    
Secondary accessions: B2R8B0 Q32LX4 Q7Z6F5
Alternative splicing: 2 isoforms:  O14836-1   O14836-2   

Explore the universe of human proteins at neXtProt for TNFRSF13B: NX_O14836

Explore proteomics data for TNFRSF13B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TNFRSF13B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036584.1  
    ENSEMBL proteins: 
     ENSP00000463582   ENSP00000464069   ENSP00000261652   ENSP00000462952   ENSP00000413453  

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

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

    2 InterPro protein domains:
     IPR015384 TACI_Cys-rich-dom
     IPR022317 TNFR_13B

    Graphical View of Domain Structure for InterPro Entry O14836

    ProtoNet protein and cluster: O14836

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

    UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836
    Similarity: Contains 2 TNFR-Cys repeats


    TNFRSF13B 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TR13B_HUMAN, O14836
    Function: Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high
    affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1.
    Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS9311921
    GO:0005515protein binding IPI10801128
         
    TNFRSF13B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TNFRSF13B:
     Increased cilium length after   Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tnfrsf13b):
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     renal/urinary system  tumorigenesis 

    TNFRSF13B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TNFRSF13B: Tnfrsf13btm1Vmd Tnfrsf13btm1Rjb Tnfrsf13btm1Cmac

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TNFRSF13B
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    hsa-mir-877-3p (MIRT037200)

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    Search for qRT-PCR Assays for microRNAs that regulate TNFRSF13B
    SwitchGear 3'UTR luciferase reporter plasmidTNFRSF13B 3' UTR sequence
    Inhib. RNA
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    (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
    TR13B_HUMAN, O14836: Membrane; Single-pass type III membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane IEA--
    GO:0009897external side of plasma membrane IEA--

    TNFRSF13B for ontologies           About GeneDecksing


    (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 TNFRSF13B About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1TNF Signaling
    TNF Signaling0.50
    TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions0.49
    Death Receptor Signaling0.50
    NF-kB (NFkB) Pathway0.46
    2RANK Signaling in Osteoclasts
    BAFF in B-Cell Signaling0.92
    Apoptosis and survival APRIL and BAFF signaling0.39
    APRIL Pathway0.92
    3PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    4Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    5Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway
    Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway0.46
    Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for TNFRSF13B
        TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TNFRSF13B (see all 10)
        STAT3 Pathway
    TRAF Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Tec Kinases Signaling

    3 GeneGo (Thomson Reuters) Pathways for TNFRSF13B
        Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
    Apoptosis and survival APRIL and BAFF signaling
    Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

    2 BioSystems Pathways for TNFRSF13B
        Syndecan-2-mediated signaling events
    Syndecan-4-mediated signaling events

    3 Sino Biological Pathways for TNFRSF13B
        TNF Signaling
    Death Receptor Signaling
    NF-kB (NFkB) Pathway


    3 Kegg Pathways  (Kegg details for TNFRSF13B):
        Cytokine-cytokine receptor interaction
    Intestinal immune network for IgA production
    Primary immunodeficiency


    TNFRSF13B for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TNFRSF13B: 
              TNF Ligands & Receptors in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TNFRSF13B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for TNFRSF13B (O148361, 3 ENSP000002616524) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFSF13BQ9Y2751, 3, ENSP000003650484EBI-519160,EBI-519169 I2D: score=4 STRING: ENSP00000365048
    MYD88Q998361, 3, ENSP000003796254EBI-519160,EBI-447677 I2D: score=2 STRING: ENSP00000379625
    TRAF5O004633, ENSP000002614644I2D: score=4 STRING: ENSP00000261464
    TNFSF13O758883, ENSP000003435054I2D: score=3 STRING: ENSP00000343505
    IRAK1P516173, ENSP000003589974I2D: score=1 STRING: ENSP00000358997
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001782B cell homeostasis IEA--
    GO:0007166cell surface receptor signaling pathway TAS9311921
    GO:0030889negative regulation of B cell proliferation IEA--

    TNFRSF13B for ontologies           About GeneDecksing



    (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 TNFRSF13B (TR13B)

    1 IUPHAR Ligand for TNFRSF13B (TACI)    About this table
    LigandTypeActionAffinityPubmed IDs
    BAFF
    NoneNone--

    3 Novoseek inferred chemical compound relationships for TNFRSF13B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bcma 98.8 72 16960154 (5), 11827482 (3), 14512299 (3), 19175985 (3) (see all 47)
    blys 95.8 57 10956646 (5), 19175985 (3), 17069785 (3), 14512299 (2) (see all 20)
    calcium 0 3 19456850 (1), 15827134 (1), 17538121 (1)



    TNFRSF13B for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TNFRSF13B gene: 
    NM_012452.2  

    Unigene Cluster for TNFRSF13B:

    Tumor necrosis factor receptor superfamily, member 13B
    Hs.158341  [show with all ESTs]
    Unigene Representative Sequence: AK097261
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000584950 ENST00000582931 ENST00000579315 ENST00000579009 ENST00000261652(uc002gqs.1 uc002gqt.1)
    ENST00000583789 ENST00000581616 ENST00000437538(uc010vwt.1)
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      QuantiTect SYBR Green Assays in human, mouse, rat TNFRSF13B
      QuantiFast Probe-based Assays in human, mouse, rat TNFRSF13B

    Additional mRNA sequence: 

    AF023614.1 AK097261.1 AK223453.1 AK301032.1 AK313302.1 AY302137.1 BC109392.1 

    3 DOTS entries:

    DT.92071919  DT.100657168  DT.99936251 

    12 AceView cDNA sequences:

    NM_012452 AY302137 AX766384 BQ056468 AF023614 AX772740 AK097261 BI906503 
    AU099378 BQ060884 BQ062660 BU540305 

    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™, 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)
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    TNFRSF13B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTGCAAAA
    TNFRSF13B Expression
    About this image


    TNFRSF13B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Mature B-Cells Peripheral Blood
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells II Spleen
    TNFRSF13B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TNFRSF13B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.158341

    UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836
    Tissue specificity: Highly expressed in spleen, thymus, small intestine and peripheral blood leukocytes. Expressed
    in resting B-cells and activated T-cells, but not in resting T-cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TNFRSF13B: 
              TNF Ligands & Receptors in human mouse rat
              T-cell & B-cell Activation in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNFRSF13B

    (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 chordates.

    Orthologs for TNFRSF13B gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnfrsf13b1 , 5 tumor necrosis factor receptor superfamily, member more1, 5 68.64(n)1
    56.78(a)1
      11 (37.96 cM)5
    579161  NM_021349.11  NP_067324.11 
     611267555 
    chicken
    (Gallus gallus)
    Aves TNFRSF13B1 tumor necrosis factor receptor superfamily, member more 56.09(n)
    43.04(a)
      770275  NM_001097537.1  NP_001091006.1 
    lizard
    (Anolis carolinensis)
    Reptilia TNFRSF13B6
    tumor necrosis factor receptor superfamily, member...
    38(a)
    1 ↔ 1
    GL343385.1(755384-758680)


    ENSEMBL Gene Tree for TNFRSF13B (if available)
    TreeFam Gene Tree for TNFRSF13B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TNFRSF13B gene
    1 SIMAP similar gene for TNFRSF13B using alignment to 3 protein entries:     TR13B_HUMAN (see all proteins):
    TACI

    TNFRSF13B for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for TNFRSF13B (see all 9)
    PGOHUM00000236910 PGOHUM00000236946 PGOHUM00000237124 PGOHUM00000237288 PGOHUM00000237301


    (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 TNFRSF13B (see all 944)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs345574121,2,,4
    C,FImmunoglobulin A deficiency 2 (IGAD2)4 pathogenic116841129(-) ACTTCT/CGTGAG 2 /R /C mis14Minor allele frequency- C:0.00NA EU 5859
    VAR_0240294
    Immunodeficiency, common variable, 2 (CVID2)4--see VAR_0240292 R H mis40--------
    VAR_0240284
    Immunodeficiency, common variable, 2 (CVID2)4--see VAR_0240282 A G mis40--------
    rs80722931,2
    C,F,Hnon-pathogenic116844822(+) ACCCCT/CGTCCA 2 /T syn121Minor allele frequency- C:0.17NS NA WA CSA EA EU 7696
    rs1048946491,2
    C,Fpathogenic116832606(-) GCCCCG/ATCAAA 2 /H /R mis12Minor allele frequency- A:0.00NA EU 5825
    rs725538831,2
    C,Fpathogenic116832669(-) GGTGGC/AGGTGG 2 /E /A mis12Minor allele frequency- A:0.00NA EU 5597
    rs1048946501,2
    Cpathogenic116841008(-) AGGCTA/CAGAAG 2 * S stg10--------
    rs560637291,2
    C,Fprobable-non-pathogenic116832024(+) TGCTCA/GCAGGG 2 A V mis12Minor allele frequency- G:0.02NA EU 4156
    rs1500680361,2
    Cunknown116831713(+) TCTCCTCA/-TATCT 1 -- cds11Minor allele frequency- -:0.50CSA 2
    rs1418033351,2
    C--16602879(+) TTTTA-/TTATT 
     TTTATTT
    TTATT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for TNFRSF13B (16832849 - 16875432 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TNFRSF13B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662060CNV Deletion23128226
    esv2666300CNV Deletion23128226
    nsv524738CNV Loss19592680
    nsv833379CNV Gain17160897
    nsv907726CNV Gain21882294
    esv275147CNV Gain+Loss21479260
    nsv155OTHER Inversion15895083
    nsv499114OTHER Inversion21111241

    Human Gene Mutation Database (HGMD): TNFRSF13B
    Locus Specific Mutation Databases (LSDB): TNFRSF13B

    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604907   
    OMIM disorders: 609529  240500  
    UniProtKB/Swiss-Prot: TR13B_HUMAN, O14836
  • Immunodeficiency, common variable, 2 (CVID2) [MIM:240500]: 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
  • Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]: Selective deficiency of immunoglobulin A (IGAD) is
    the most common form of primary immunodeficiency, with an incidence of approximately 1 in 600 individuals in the
    western world. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or decreased antibody
    response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with IGAD also suffer
    from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune
    disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some individuals
    with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and CVID
    have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID.
    These observations suggest that some cases of IGAD and CVID may have a common etiology. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for TNFRSF13B (see all 37):    
    About MalaCards
    tnfrsf13b-related common variable immune deficiency    immunoglobulin a deficiency 2    immunodeficiency, common variable, 2    common variable immune deficiency
    common variable immunodeficiency    immunoglobulin alpha deficiency    smith magenis syndrome    immunodeficiency, common variable, 9
    hypersensitivity reaction type ii disease    waldenstrom macroglobulinemia    macroglobulinemia    intracranial aneurysm
    bronchiectasis    agammaglobulinemia    follicular lymphoma    myeloma
    rheumatic disease    primary biliary cirrhosis    multiple myeloma    diarrhea

    2 diseases from the University of Copenhagen DISEASES database for TNFRSF13B:
    Common variable immunodeficiency     Immunoglobulin alpha deficiency

    TNFRSF13B for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for TNFRSF13B gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    common variable immunodeficiency 85.3 18 16630947 (2), 16007087 (2), 16007086 (2), 16899196 (1) (see all 8)
    antibody deficiency syndrome 78.8 1 17171762 (1)
    iga deficiency 64.6 3 16007086 (2), 16899196 (1)
    autoimmune diseases 49.4 1 16187941 (1)
    autoimmunity 48 1 17171762 (1)
    necrosis 45.9 12 19494827 (2), 16899196 (1), 18064389 (1), 10956646 (1) (see all 8)
    myeloma 41.9 6 18046446 (3), 15827134 (2), 17550853 (1)
    immunodeficiency 38.2 2 19494827 (1), 16264328 (1)
    leukemia lymphocytic chronic 33.8 1 19291294 (1)
    lymphoma non-hodgkins 23.5 1 19291294 (1)

    GeneTests: TNFRSF13B
    GeneReviews: TNFRSF13B
    Genetic Association Database (GAD): TNFRSF13B
    Human Genome Epidemiology (HuGE) Navigator: TNFRSF13B (17 documents)

    Export disorders for TNFRSF13B 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 TNFRSF13B gene, integrated from 10 sources (see all 138):
    (articles sorted by number of sources associating them with TNFRSF13B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily. (PubMed id 9311921)1, 2, 3 von Buelow G.-U. and Bram R.J. (Science 1997)
    2. Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. (PubMed id 19629655)1, 4, 9 Mohammadi J....HammarstrAPm L. (J. Clin. Immunol. 2009)
    3. An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene. (PubMed id 19494827)1, 4, 9 Sazzini M....Luiselli D. (Genes Immun. 2009)
    4. Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency. (PubMed id 19392801)1, 4, 9 LA^pez-MejA-as R....NA_A+ez C. (Tissue Antigens 2009)
    5. Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. (PubMed id 20156508)1, 4, 9 Dong X....Abraham R.S. (Hum. Immunol. 2010)
    6. TACI is mutant in common variable immunodeficiency and IgA deficiency. (PubMed id 16007086)1, 2, 9 Castigli E.... Geha R.S. (Nat. Genet. 2005)
    7. Tumor necrosis factor (TNF) receptor superfamily member TACI is a high affinity receptor for TNF family members APRIL and BLyS. (PubMed id 10956646)1, 2, 9 Wu Y.... Baker K.P. (J. Biol. Chem. 2000)
    8. Lymphocyte characteristics in children with common variable immunodeficiency. (PubMed id 20006554)1, 4, 9 van de Ven A.A....van Montfrans J.M. (Clin. Immunol. 2010)
    9. Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese. (PubMed id 22558069)1, 4 Osman W....Nakamura Y. (PLoS ONE 2012)
    10. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PubMed id 20139978)1, 4 Kamatani Y....Kamatani N. (Nat. Genet. 2010)

    (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: 23495 HGNC: 18153 AceView: TNFRSF13B Ensembl:ENSG00000240505 euGenes: HUgn23495
    ECgene: TNFRSF13B Kegg: 23495 H-InvDB: TNFRSF13B

    (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 TNFRSF13B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TNFRSF13B Genetics and Cytogenetics in Oncology and Haematology
    TNFRSF13Bbasehttp://bioinf.uta.fi/TNFRSF13Bbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TNFRSF13B[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TNFRSF13B gene:
    Search GeneIP for patents involving TNFRSF13B

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



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