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    FBXW12 F-box and WD repeat domain containing 12 [ Homo sapiens (human) ]

    Gene ID: 285231, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FBXW12provided by HGNC
    Official Full Name
    F-box and WD repeat domain containing 12provided by HGNC
    Primary source
    HGNC:HGNC:20729
    See related
    Ensembl:ENSG00000164049 MIM:609075; AllianceGenome:HGNC:20729
    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
    FBW12; FBXO12; FBXO35
    Summary
    Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See FBXW12 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48372219..48394725)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48400304..48422793)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48413709..48436190)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14325 Neighboring gene FCF1 pseudogene 2 Neighboring gene NME/NM23 nucleoside diphosphate kinase 6 Neighboring gene serine peptidase inhibitor Kazal type 8 (putative) Neighboring gene microRNA 2115 Neighboring gene MPRA-validated peak4639 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48399605-48400105 Neighboring gene RNA, 7SL, cytoplasmic 321, pseudogene Neighboring gene plexin B1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48471449-48472442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:48473797-48474996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48476193-48477035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14330 Neighboring gene coiled-coil domain containing 51 Neighboring gene translation machinery associated 7 homolog

    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. FBXW12, a novel F box protein-encoding gene, is deleted or methylated in some cases of epithelial ovarian cancer. De La Chesnaye E, et al. Int J Clin Exp Pathol, 2015. PMID 26617728, Free PMC Article
    2. cDNA cloning and expression analysis of a novel human F-box domain containing gene. Zeng L, et al. Mol Biol Rep, 2004 Mar. PMID 15040455
    3. The Human IL-22 Receptor Is Regulated through the Action of the Novel E3 Ligase Subunit FBXW12, Which Functions as an Epithelial Growth Suppressor. Franz J, et al. J Immunol Res, 2015. PMID 26171402, Free PMC Article
    4. TAK1 Is a Novel Target in Hepatocellular Carcinoma and Contributes to Sorafenib Resistance. Xia S, et al. Cell Mol Gastroenterol Hepatol, 2021. PMID 33962073, Free PMC Article
    5. Systematic analysis and nomenclature of mammalian F-box proteins. Jin J, et al. Genes Dev, 2004 Nov 1. PMID 15520277, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FBXW12 gene is deleted in approximately ten percent of the epithelial ovarian cancer cases studied; such deletions comprised either the FBXW12 promoter or the mRNA-encoding region.
      Title: FBXW12, a novel F box protein-encoding gene, is deleted or methylated in some cases of epithelial ovarian cancer.
    2. FBXW12 functions as an E3 ligase constituent to ubiquitinate and degrade IL-22R and that therapeutic FBXW12 inhibition may enhance IL-22 signaling and bolster mucosal host defense and infection containment.
      Title: The Human IL-22 Receptor Is Regulated through the Action of the Novel E3 Ligase Subunit FBXW12, Which Functions as an Epithelial Growth Suppressor.
    3. FBXO35 gene had a ubiquitously low expression pattern in most human adult tissues. FBXO35 gene was found located in chromosome 3p21.
      Title: cDNA cloning and expression analysis of a novel human F-box domain containing gene.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC120385, MGC120386, MGC120387

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    F-box/WD repeat-containing protein 12
    Names
    F-box and WD-40 domain protein 12
    F-box and WD-40 domain-containing protein 12
    F-box only protein 35
    F-box- and WD40-repeat-containing protein

    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_001159927.1 → NP_001153399.1  F-box/WD repeat-containing protein 12 isoform 2

      See identical proteins and their annotated locations for NP_001153399.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to isoform 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC104448, AY247969, BC101304
      Consensus CDS
      CCDS54578.1
      UniProtKB/Swiss-Prot
      Q6X9E4
      Related
      ENSP00000414683.1, ENST00000415155.5
      Conserved Domains (1) summary
      pfam12937
      Location:4 → 46
      F-box-like; F-box-like

    2. NM_001159929.1 → NP_001153401.1  F-box/WD repeat-containing protein 12 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC104448, AY247969, BC101305
      Consensus CDS
      CCDS54577.1
      UniProtKB/Swiss-Prot
      Q6X9E4
      Related
      ENSP00000406139.1, ENST00000445170.5

    3. NM_207102.2 → NP_996985.2  F-box/WD repeat-containing protein 12 isoform 1

      See identical proteins and their annotated locations for NP_996985.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC104448, AY247969
      Consensus CDS
      CCDS2764.1
      UniProtKB/Swiss-Prot
      E9PG36, Q494Y9, Q494Z0, Q6X9E4
      Related
      ENSP00000296438.5, ENST00000296438.9
      Conserved Domains (1) summary
      pfam12937
      Location:4 → 48
      F-box-like; F-box-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      48372219..48394725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      48400304..48422793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6X9E4.2 GenPept UniProtKB/Swiss-Prot:Q6X9E4

    Gene LinkOut

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

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