Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
115650
Gene name Gene Name - the full gene name approved by the HGNC.
TNF receptor superfamily member 13C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNFRSF13C
Synonyms (NCBI Gene) Gene synonyms aliases
BAFF-R, BAFFR, BROMIX, CD268, CVID4, prolixin
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
Summary Summary of gene provided in NCBI Entrez 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 SL
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
NFKB1 Activation 20025535
RELA Activation 20025535
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606269 17755 ENSG00000159958
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Common variable immunodeficiency immunodeficiency, common variable, 4 N/A N/A ClinVar, GenCC
Common Variable Immunodeficiency immunodeficiency, common variable, 2, common variable immunodeficiency, Common Variable Immune Deficiency, Recessive N/A N/A ClinVar, GenCC
Associations from Text Mining Disease 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