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    TNFRSF12A TNF receptor superfamily member 12A [ Homo sapiens (human) ]

    Gene ID: 51330, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TNFRSF12Aprovided by HGNC
    Official Full Name
    TNF receptor superfamily member 12Aprovided by HGNC
    Primary source
    HGNC:HGNC:18152
    See related
    Ensembl:ENSG00000006327 MIM:605914; AllianceGenome:HGNC:18152
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FN14; CD266; TWEAKR
    Summary
    Involved in positive regulation of extrinsic apoptotic signaling pathway and regulation of wound healing. Predicted to be located in cell surface and ruffle. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in gall bladder (RPKM 21.3), liver (RPKM 18.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3020368..3022383)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3046940..3048955)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3070369..3072384)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3064184-3064351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3065208-3065772 Neighboring gene claudin 9 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3066992-3067588 Neighboring gene claudin 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3067589-3068185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3068783-3069378 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:3070698-3071897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3073371-3074015 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3074016-3074659 Neighboring gene host cell factor C1 regulator 1 Neighboring gene THO complex subunit 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3076940-3077746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3079359-3080163 Neighboring gene BICD family like cargo adaptor 2 Neighboring gene uncharacterized LOC100128770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10293

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Activation of fibroblast growth factor-inducible 14 in the early phase of childhood IgA nephropathy. Tezuka Y, et al. PLoS One, 2021. PMID 34597335, Free PMC Article
    2. Elevated fibroblast growth factor-inducible 14 expression transforms proneural-like gliomas into more aggressive and lethal brain cancer. Connolly NP, et al. Glia, 2021 Sep. PMID 33991013, Free PMC Article
    3. Decreased expression of TNFRSF12A in thyroid gland cancer predicts poor prognosis: A study based on TCGA data. Wu ZH, et al. Medicine (Baltimore), 2020 Aug 21. PMID 32846846, Free PMC Article
    4. TWEAK/Fn14 Interaction Confers Aggressive Properties to Cutaneous Squamous Cell Carcinoma. Hu G, et al. J Invest Dermatol, 2019 Apr. PMID 30414907
    5. The TNF receptor family member Fn14 is highly expressed in recurrent glioblastoma and in GBM patient-derived xenografts with acquired temozolomide resistance. Hersh DS, et al. Neuro Oncol, 2018 Sep 3. PMID 29897522, Free PMC Article

    See all (137) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Il1r2 and Tnfrsf12a in transcranial magnetic stimulation effect of ischemic stroke via bioinformatics analysis.
      Title: Il1r2 and Tnfrsf12a in transcranial magnetic stimulation effect of ischemic stroke via bioinformatics analysis.
    2. TWEAK and Fn14 are overexpressed in immune-mediated necrotizing myopathy: implications for muscle damage and repair.
      Title: TWEAK and Fn14 are overexpressed in immune-mediated necrotizing myopathy: implications for muscle damage and repair.
    3. Alpha-Ketoglutarate Regulates Tnfrsf12a/Fn14 Expression via Histone Modification and Prevents Cancer-Induced Cachexia.
      Title: Alpha-Ketoglutarate Regulates Tnfrsf12a/Fn14 Expression via Histone Modification and Prevents Cancer-Induced Cachexia.
    4. Relief of Extracellular Matrix Deposition Repression by Downregulation of IRF1-Mediated TWEAK/Fn14 Signaling in Keloids.
      Title: Relief of Extracellular Matrix Deposition Repression by Downregulation of IRF1-Mediated TWEAK/Fn14 Signaling in Keloids.
    5. TWEAK/Fn14 signaling may function as a reactive compensatory mechanism against extracellular matrix accumulation in keloid fibroblasts.
      Title: TWEAK/Fn14 signaling may function as a reactive compensatory mechanism against extracellular matrix accumulation in keloid fibroblasts.
    6. Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer.
      Title: Clinical significance and diagnostic value of QPCT, SCEL and TNFRSF12A in papillary thyroid cancer.
    7. TWEAK-Fn14 Axis Induces Calcium-Associated Autophagy and Cell Death To Control Mycobacterial Survival in Macrophages.
      Title: TWEAK-Fn14 Axis Induces Calcium-Associated Autophagy and Cell Death To Control Mycobacterial Survival in Macrophages.
    8. The TWEAK/Fn14/CD163 axis-implications for metabolic disease.
      Title: The TWEAK/Fn14/CD163 axis-implications for metabolic disease.
    9. BMP2-induction of FN14 promotes protumorigenic signaling in gynecologic cancer cells.
      Title: BMP2-induction of FN14 promotes protumorigenic signaling in gynecologic cancer cells.
    10. Elevated fibroblast growth factor-inducible 14 expression transforms proneural-like gliomas into more aggressive and lethal brain cancer.
      Title: Elevated fibroblast growth factor-inducible 14 expression transforms proneural-like gliomas into more aggressive and lethal brain cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (119)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of extrinsic apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of wound healing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    tumor necrosis factor receptor superfamily member 12A
    Names
    FGF-inducible 14
    fibroblast growth factor-inducible immediate-early response protein 14
    tweak-receptor
    type I transmembrane protein Fn14

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_016639.3 → NP_057723.1  tumor necrosis factor receptor superfamily member 12A precursor

      See identical proteins and their annotated locations for NP_057723.1

      Status: VALIDATED

      Source sequence(s)
      BC002718
      Consensus CDS
      CCDS10489.1
      UniProtKB/Swiss-Prot
      D3DUA6, Q9HCS0, Q9NP84
      Related
      ENSP00000326737.5, ENST00000326577.9
      Conserved Domains (2) summary
      cd13413
      Location:36 → 104
      TNFRSF12A; CRD2 [structural motif]
      pfam12191
      Location:23 → 129
      stn_TNFRSF12A; tumor necrosis factor receptor stn_TNFRSF12A_TNFR domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      3020368..3022383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      3046940..3048955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NP84.1 GenPept UniProtKB/Swiss-Prot:Q9NP84

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Tools
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