Basic information
Entrez ID Official symbol Synonyms Description Location Type of protein External annotation
8741 TNFSF13 APRIL, CD256, TALL-2, TALL2, TNLG7B, TRDL-1, UNQ383/PRO715, ZTNF2 TNF superfamily member 13 17p13.1 protein-coding Genecard
Summary
uniprot_summary refseq_summary
Cytokine that binds to TNFRSF13B/TACI and to TNFRSF17/BCMA. Plays a role in the regulation of tumor cell growth. May be involved in monocyte/macrophage-mediated immunological processes. The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13.
Assessment table
Flase
Caregory Description Value Value range ( Low - High ) Comment
PLI The probability of being loss-of-function (LoF) intolerant 0.878 [0, ..., 1] Genes with high pLI scores (pLI ≥ 0.9) are extremely LoF intolerant, whereby genes with low pLI scores (pLI ≤ 0.1) are LoF tolerant. The score is calculated based on high-quality exome sequence data (ExAC) for 60,706 individuals of diverse ethnicities.
Haploinsufficiency (HI) score rank Predicted probability of exhibiting haploinsufficiency [100, ..., 1] High ranks (e.g. 0-10%) indicate a gene is more likely to exhibit haploinsufficiency, low ranks (e.g. 90-100%) indicate a gene is more likely to NOT exhibit haploinsufficiency (DECIPHER, PMID: 20976243). haploinsufficiency means a single functional copy of a gene is insufficient to maintain its normal function and is extremely intolerant of LoF variation.
Gene brain expressed Queried gene is expressed in brain tissues True [False, True] The gene expression data are extracted from GTEx v7 and BrainSpan. A gene with the expression value of (log 2 based (TPM+1)) at least 1 TPM/RPKM/FPKM in one or more tissues related to the brain is considered brain-expressed.
Protein brain expressed Queried protein is expressed in brain tissues[False, True] The protein expression data are extracted from ProteomicsDB (v2018.09). A protein with the expression value of (log based 10 (iBAQ intensity)) at least 0.5 in one or more tissues related to the brain is considered brain-expressed protein.
Carrying LoF DNMs Number of loss-of-function DNMs hit the queried gene 0
(Case)
[0, ..., 67] with average of 0.160 Loss of function (LoF) mutations include frameshift indels, nonsense (stop-gained) and splice-site mutations, which can result in the gene product having less or no function and can have deleterious consequences.
0
(Control)
[0, ..., 6] with average of 0.044
Carrying missense DNMs Number of missense DNMs hit the queried gene 0
(Case)
[0, ..., 55] with average of 0.846 Missense mutations can result in changes in protein sequences, but are commonly considered to have less deleterious impacts than LoF mutations.
0
(Control)
[0, ..., 21] with average of 0.300
FMRP binding targets FMRP inteacting parters False [False, True] FMRP loss of function causes Fragile X syndrome (FXS). The binding targets identified crosslinking immunoprecipitation (HITS-CLIP) in mouse brains (PMID:21784246). Many FMRP targets are among genes implicated in different neuropsychiatric diseases, such as autism, schizophrenia.
Postsynaptic density (PSD) Protein associates with postsynaptic membranes of excitatory synapses False [False, True] Abnormalities with PSD proteins are linked to various neuropsychiatric diseases including neurodevelopmental disorders.
Human essential genes - False [False, True] Genes are thought to be critical for human survival.