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Aliases for TNFRSF13C Gene

Aliases for TNFRSF13C Gene

  • Tumor Necrosis Factor Receptor Superfamily Member 13C 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily, Member 13C 2 3
  • B-Cell-Activating Factor Receptor 3 4
  • BLyS Receptor 3 3 4
  • BAFF Receptor 3 4
  • BAFF-R 3 4
  • BAFFR 3 4
  • B Cell-Activating Factor Receptor 3
  • CD268 Antigen 4
  • Prolixin 3
  • BROMIX 3
  • CD268 3
  • CVID4 3
  • BR3 4

External Ids for TNFRSF13C Gene

Previous GeneCards Identifiers for TNFRSF13C Gene

  • GC22M038935
  • GC22M040564
  • GC22M040645
  • GC22M042321
  • GC22M025286

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 Common Variable Immunodeficiency. Among its related pathways are HTLV-I infection and TNF Signaling (sino).

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

Regulatory Elements for TNFRSF13C Gene

Enhancers for TNFRSF13C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TNFRSF13C on UCSC Golden Path with GeneCards custom track

Promoters for TNFRSF13C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TNFRSF13C on UCSC Golden Path with GeneCards custom track

Genomic Location for TNFRSF13C Gene

Chromosome:
22
Start:
41,922,023 bp from pter
End:
41,926,818 bp from pter
Size:
4,796 bases
Orientation:
Minus strand

Genomic View for TNFRSF13C Gene

Genes around TNFRSF13C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF13C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF13C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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:

Antibody Products

  • R&D Systems Antibodies for TNFRSF13C (BAFF R/TNFRSF13C)

No data available for DME Specific Peptides for TNFRSF13C Gene

Domains & Families for TNFRSF13C Gene

Protein Domains for TNFRSF13C Gene

Suggested Antigen Peptide Sequences for TNFRSF13C Gene

Graphical View of Domain Structure for InterPro Entry

Q96RJ3

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for TNFRSF13C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFRSF13C Gene

MGI Knock Outs for TNFRSF13C:

Animal Model Products

CRISPR Products

miRNA for TNFRSF13C Gene

miRTarBase miRNAs that target TNFRSF13C

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
plasma membrane 5
mitochondrion 3
nucleus 3
cytosol 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for TNFRSF13C Gene

Pathways & Interactions for TNFRSF13C Gene

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

SIGNOR curated interactions for TNFRSF13C Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TNFRSF13C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001782 B cell homeostasis IEA --
GO:0002250 adaptive immune response IEA --
GO:0030890 positive regulation of B cell proliferation IEA --
GO:0031296 B cell costimulation IEA --
GO:0042102 positive regulation of T cell proliferation IEA --
genes like me logo Genes that share ontologies with TNFRSF13C: view

Drugs & Compounds for TNFRSF13C Gene

(3) Drugs for TNFRSF13C Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
BAFF Pharma 0
LYMPHORAD Pharma 0

(2) Additional Compounds for TNFRSF13C Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 (x11.5) and Small Intestine - Terminal Ileum (x6.2).

Protein differential expression in normal tissues from HIPED for TNFRSF13C Gene

This gene is overexpressed in Blymphocyte (62.0) and Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB 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 expression patterns with TNFRSF13C: view

Protein tissue co-expression partners for TNFRSF13C Gene

- Elite partner

Primer Products

Orthologs for TNFRSF13C Gene

This gene was present in the common ancestor of mammals.

Orthologs for TNFRSF13C Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Tnfrsf13c 35
  • 66.67 (n)
  • 52.35 (a)
Tnfrsf13c 16
Tnfrsf13c 36
  • 54 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF13C 35
  • 98.56 (n)
  • 97.84 (a)
TNFRSF13C 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnfrsf13c 35
  • 66.08 (n)
  • 51.18 (a)
cow
(Bos Taurus)
Mammalia TNFRSF13C 36
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNFRSF13C 36
  • 67 (a)
OneToOne
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
VAR_063888 -
VAR_063890 -
rs7287486 -- 41,926,850(+) GGGGG(G/T)CGGGG upstream-variant-2KB
rs7287494 -- 41,926,853(+) GGGCG(A/G)GGGGA upstream-variant-2KB
rs77874543 -- 41,926,712(+) CGGCC(C/G)GGACG reference, missense

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

Variation tolerance for TNFRSF13C Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.17; 51.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TNFRSF13C Gene

Human Gene Mutation Database (HGMD)
TNFRSF13C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFRSF13C Gene

Disorders for TNFRSF13C Gene

MalaCards: The human disease database

(13) MalaCards diseases for TNFRSF13C Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 4
  • cvid4
common variable immunodeficiency
  • acquired agammaglobulinemia
tnfrsf13c-related common variable immune deficiency
  • immunodeficiency, common variable, 4
primary agammaglobulinemia
  • hypogammaglobulinemia
b cell deficiency
  • b cell deficiencies
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for TNFRSF13C

Genetic Association Database (GAD)
TNFRSF13C
Human Genome Epidemiology (HuGE) Navigator
TNFRSF13C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNFRSF13C
genes like me logo Genes that share disorders with TNFRSF13C: view

No data available for Genatlas for TNFRSF13C Gene

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 48 67
  2. Characterization of the 5'-flanking region and regulation of transcription of human BAFF-R gene. (PMID: 20025535) Yuan H. … Ju S. (DNA Cell Biol. 2010) 3 23
  3. Expression of BAFF-R and TACI in reactive lymphoid tissues and B-cell lymphomas. (PMID: 19207947) Wada K. … Yamakawa M. (Histopathology 2009) 3 23
  4. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. (PMID: 19666484) Warnatz K. … Eibel H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  5. TNF receptor-associated factor 1 is a positive regulator of the NF- kappaB alternative pathway. (PMID: 19698991) Lavorgna A. … Leonardi A. (Mol. Immunol. 2009) 3 23

Products for TNFRSF13C Gene

Sources for TNFRSF13C Gene

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