Gene Gene information from NCBI Gene database.
Entrez ID 115650
Gene name TNF receptor superfamily member 13C
Gene symbol TNFRSF13C
Synonyms (NCBI Gene)
BAFF-RBAFFRBROMIXCD268CVID4prolixin
Chromosome 22
Chromosome location 22q13.2
Summary 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 SL
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs77874543 G>C,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
386
miRTarBase ID miRNA Experiments Reference
MIRT614718 hsa-miR-8485 HITS-CLIP 19536157
MIRT621747 hsa-miR-4433a-5p HITS-CLIP 19536157
MIRT376971 hsa-miR-6736-3p HITS-CLIP 19536157
MIRT714692 hsa-miR-4267 HITS-CLIP 19536157
MIRT714691 hsa-miR-1224-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NFKB1 Activation 20025535
RELA Activation 20025535
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0005886 Component Plasma membrane TAS
GO:0009897 Component External side of plasma membrane IBA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606269 17755 ENSG00000159958
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96RJ3
Protein name Tumor necrosis factor receptor superfamily member 13C (B-cell-activating factor receptor) (BAFF receptor) (BAFF-R) (BLyS receptor 3) (CD antigen CD268)
Protein function B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response.
PDB 1MPV , 1OQE , 1OSX , 2HFG , 3V56 , 4V46
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09256 BaffR-Tall_bind 16 45 BAFF-R, TALL-1 binding Domain
Tissue specificity 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.
Sequence
MRRGPRSLRGRDAPAPTPCVPAECFDLLVRHCVACGLLRTPRPKPAGASSPAPRTALQPQ
ESVGAGAGEAALPLPGLLFGAPALLGLALVLALVLVGLVSWRRRQRRLRGASSAEAPDGD
KDAPEPLDKVIILSPGISDATAPAWPPPGEDPGTTPPGHSVPVPATELGSTELVTTKTAG
PEQQ
Sequence length 184
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Intestinal immune network for IgA production
Human T-cell leukemia virus 1 infection
Primary immunodeficiency
  TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
167
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency, common variable, 4 Pathogenic; Likely pathogenic rs2518791065, rs2146589489 RCV000004713
RCV003132911
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Common Variable Immune Deficiency, Recessive Conflicting classifications of pathogenicity rs886057589 RCV000281136
Gastric cancer Benign; Likely benign rs201892760 RCV005913908
Immunodeficiency, common variable, 2 Conflicting classifications of pathogenicity rs150374940 RCV001197550
Sarcoma Benign; Likely benign rs529563231 RCV005897558
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 36308663
Arthritis Rheumatoid Stimulate 21515993
Arthritis Rheumatoid Associate 22127692, 33483588
Autoimmune Diseases Associate 19258594, 34075170, 36308663
Autoimmune Lymphoproliferative Syndrome Associate 31309545
Bloom Syndrome Associate 32073752
Borderline Personality Disorder Associate 33414392
Breast Neoplasms Associate 26317411
Bronchiolitis Obliterans Syndrome Associate 30447393
Burkitt Lymphoma Associate 36308663