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Aliases for TNFRSF13C Gene

Aliases for TNFRSF13C Gene

  • Tumor Necrosis Factor Receptor Superfamily, Member 13C 2 3
  • BAFFR 3 4 6
  • B-Cell-Activating Factor Receptor 3 4
  • BLyS Receptor 3 3 4
  • BAFF Receptor 3 4
  • BAFF-R 3 4
  • CVID4 3 6
  • Tumor Necrosis Factor Receptor Superfamily Member 13C 3
  • B Cell-Activating Factor Receptor 3
  • CD268 Antigen 4
  • Prolixin 3
  • BROMIX 3
  • CD268 3
  • BR3 4

External Ids for TNFRSF13C Gene

Summaries for TNFRSF13C Gene

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 immunodeficiency, common variable, 4 and tnfrsf13c-related common variable immune deficiency. Among its related pathways are NF-KappaB Family Pathway and Akt Signaling.

UniProtKB/Swiss-Prot for TNFRSF13C Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNFRSF13C Gene

Genomics for TNFRSF13C Gene

Genomic Location for TNFRSF13C Gene

Start:
41,925,032 bp from pter
End:
41,926,818 bp from pter
Size:
1,787 bases
Orientation:
Minus strand

Genomic View for TNFRSF13C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TNFRSF13C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFRSF13C Gene

Regulatory Elements for TNFRSF13C Gene

Proteins for TNFRSF13C Gene

  • Protein details for TNFRSF13C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RJ3-TR13C_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 13C
    Protein Accession:
    Q96RJ3
    Secondary Accessions:

    Protein attributes for TNFRSF13C Gene

    Size:
    184 amino acids
    Molecular mass:
    18864 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TNFRSF13C Gene

    Alternative splice isoforms for TNFRSF13C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFRSF13C Gene

Proteomics data for TNFRSF13C Gene at MOPED

Post-translational modifications for TNFRSF13C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNFRSF13C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TNFRSF13C Gene

Domains for TNFRSF13C Gene

Gene Families for TNFRSF13C Gene

HGNC:
  • CD :CD molecules
  • TNFRSF :Tumor necrosis factor receptor superfamily
IUPHAR :

Protein Domains for TNFRSF13C Gene

UniProtKB/Swiss-Prot:

TR13C_HUMAN
Similarity:
  • Contains 1 TNFR-Cys repeat.:
    • Q96RJ3
genes like me logo Genes that share domains with TNFRSF13C: view

Function for TNFRSF13C Gene

Molecular function for TNFRSF13C Gene

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

Phenotypes for TNFRSF13C Gene

genes like me logo Genes that share phenotypes with TNFRSF13C: view

Animal Models for TNFRSF13C Gene

MGI Knock Outs for TNFRSF13C:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targeting and HOMER Transcription for TNFRSF13C Gene

Localization for TNFRSF13C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF13C Gene

Membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNFRSF13C Gene COMPARTMENTS Subcellular localization image for TNFRSF13C gene
Compartment Confidence
mitochondrion 3
plasma membrane 3
nucleus 2
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for TNFRSF13C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TNFRSF13C: view

Pathways for TNFRSF13C Gene

genes like me logo Genes that share pathways with TNFRSF13C: view

Gene Ontology (GO) - Biological Process for TNFRSF13C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001782 B cell homeostasis IEA --
GO:0002636 positive regulation of germinal center formation IEA --
GO:0030890 positive regulation of B cell proliferation IEA --
GO:0031295 T cell costimulation IEA --
GO:0031296 B cell costimulation IEA --
genes like me logo Genes that share ontologies with TNFRSF13C: view

Compounds for TNFRSF13C Gene

(1) IUPHAR Ligand for TNFRSF13C Gene

Ligand Type Action Affinity Pubmed IDs
BAFF None None

(3) Novoseek inferred chemical compound relationships for TNFRSF13C Gene

Compound -log(P) Hits PubMed IDs
bcma 98.6 80
blys 96.8 39
calcium 1.14 7
genes like me logo Genes that share compounds with TNFRSF13C: view

Transcripts for TNFRSF13C Gene

mRNA/cDNA for TNFRSF13C Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TNFRSF13C Gene

Tumor necrosis factor receptor superfamily, member 13C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF13C Gene

No ASD Table

Relevant External Links for TNFRSF13C Gene

GeneLoc Exon Structure for
TNFRSF13C
ECgene alternative splicing isoforms for
TNFRSF13C

Expression for TNFRSF13C Gene

mRNA expression in normal human tissues for TNFRSF13C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNFRSF13C Gene

This gene is overexpressed in Spleen (11.5) and Small Intestine - Terminal Ileum (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TNFRSF13C Gene

SOURCE GeneReport for Unigene cluster for TNFRSF13C Gene Hs.344088

mRNA Expression by UniProt/SwissProt for TNFRSF13C Gene

Q96RJ3-TR13C_HUMAN
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
genes like me logo Genes that share expressions with TNFRSF13C: view

Orthologs for TNFRSF13C Gene

This gene was present in the common ancestor of mammals.

Orthologs for TNFRSF13C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF13C 36
  • 98.56 (n)
  • 97.84 (a)
TNFRSF13C 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TNFRSF13C 37
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNFRSF13C 37
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnfrsf13c 36
  • 66.67 (n)
  • 52.35 (a)
Tnfrsf13c 16
Tnfrsf13c 37
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnfrsf13c 36
  • 66.08 (n)
  • 51.18 (a)
Species with no ortholog for TNFRSF13C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TNFRSF13C Gene

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

Paralogs for TNFRSF13C Gene

No data available for Paralogs for TNFRSF13C Gene

Variants for TNFRSF13C Gene

Sequence variations from dbSNP and Humsavar for TNFRSF13C Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs5996087 -- 41,925,587(+) TACTC(A/G)GTCAC intron-variant
rs5996088 -- 41,927,909(+) GCTCA(C/T)GTCAT upstream-variant-2KB
rs7287242 -- 41,926,844(+) GGAAG(C/G)GGGGG upstream-variant-2KB
rs7287486 -- 41,926,850(+) GGGGG(G/T)CGGGG upstream-variant-2KB
rs7287494 -- 41,926,853(+) GGGCG(A/G)GGGGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TNFRSF13C Gene

Variant ID Type Subtype PubMed ID
nsv508736 CNV Insertion 20534489
dgv4979n71 CNV Loss 21882294
dgv4980n71 CNV Loss 21882294

Relevant External Links for TNFRSF13C Gene

HapMap Linkage Disequilibrium report
TNFRSF13C
Human Gene Mutation Database (HGMD)
TNFRSF13C

Disorders for TNFRSF13C Gene

(1) OMIM Diseases for TNFRSF13C Gene (606269)

UniProtKB/Swiss-Prot

TR13C_HUMAN
  • 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. {ECO:0000269 PubMed:19666484}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TNFRSF13C Gene

(15) Novoseek inferred disease relationships for TNFRSF13C Gene

Disease -log(P) Hits PubMed IDs
antibody deficiency syndrome 81.1 1
common variable immunodeficiency 73.3 3
autoimmune diseases 66.6 5
necrosis 61.5 15
lupus erythematosus systemic 60.8 2

Relevant External Links for TNFRSF13C

GeneTests
TNFRSF13C
GeneReviews
TNFRSF13C
Genetic Association Database (GAD)
TNFRSF13C
Human Genome Epidemiology (HuGE) Navigator
TNFRSF13C
genes like me logo Genes that share disorders with TNFRSF13C: view

Publications for TNFRSF13C Gene

  1. Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. (PMID: 16160919) Losi C.G. … Plebani A. (J. Clin. Immunol. 2005) 3 4 23 49
  2. Crystal structure of the BAFF-BAFF-R complex and its implications for receptor activation. (PMID: 12715002) Kim H.M. … Lee J.-O. (Nat. Struct. Biol. 2003) 3 4 23
  3. Ligand-receptor binding revealed by the TNF family member TALL-1. (PMID: 12721620) Liu Y. … Zhang G. (Nature 2003) 3 4 23
  4. BAFF/BLyS receptor 3 comprises a minimal TNF receptor-like module that encodes a highly focused ligand-binding site. (PMID: 12755599) Gordon N.C. … Starovasnik M.A. (Biochemistry 2003) 3 4 23
  5. BAFF-R, a newly identified TNF receptor that specifically interacts with BAFF. (PMID: 11509692) Thompson J.S. … Ambrose C. (Science 2001) 2 3 4

Products for TNFRSF13C Gene

Sources for TNFRSF13C Gene

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