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    DCAF12L2 DDB1 and CUL4 associated factor 12 like 2 [ Homo sapiens (human) ]

    Gene ID: 340578, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DCAF12L2provided by HGNC
    Official Full Name
    DDB1 and CUL4 associated factor 12 like 2provided by HGNC
    Primary source
    HGNC:HGNC:32950
    See related
    Ensembl:ENSG00000198354 AllianceGenome:HGNC:32950
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WDR40C
    Summary
    This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]
    Orthologs
    all
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    Genomic context

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    See DCAF12L2 in Genome Data Viewer
    Location:
    Xq25
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (126163499..126166289, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (124476206..124478996, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (125297482..125300272, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905212 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:124522665-124523229 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:124525724-124526468 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:124527213-124527957 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:124527958-124528701 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:124913288-124914246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:124960324-124960824 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:125243268-125243822 Neighboring gene uncharacterized LOC101928495 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:125299194-125299694 Neighboring gene uncharacterized LOC107985648 Neighboring gene MT-CO1 pseudogene 53

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. Jin J, et al. Mol Cell, 2006 Sep 1. PMID 16949367
    2. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article
    3. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461, Free PMC Article
    4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functionally characterizes other DDB1- and CUL4-associated factors, including the DCAF12 factor which most closely resembles the product of this gene.
      Title: A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1.
    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)

    Genotypes

    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

    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DDB1- and CUL4-associated factor 12-like protein 2
    Names
    WD repeat-containing protein 40C

    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.

    Genomic

    1. NG_021265.1 RefSeqGene

      Range
      4809..7599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001013628.3 → NP_001013650.1  DDB1- and CUL4-associated factor 12-like protein 2

      See identical proteins and their annotated locations for NP_001013650.1

      Status: REVIEWED

      Source sequence(s)
      AL445072, AY726580, BC136674
      Consensus CDS
      CCDS43991.1
      UniProtKB/Swiss-Prot
      B2RN42, Q5VW00
      Related
      ENSP00000353128.2, ENST00000360028.4
      Conserved Domains (2) summary
      COG2319
      Location:152 → 417
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:100 → 145
      7WD40; WD40 repeat [structural motif]

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      126163499..126166289 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      124476206..124478996 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VW00.1 GenPept UniProtKB/Swiss-Prot:Q5VW00

    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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