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    DCAF8L2 DDB1 and CUL4 associated factor 8 like 2 [ Homo sapiens (human) ]

    Gene ID: 347442, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DCAF8L2provided by HGNC
    Official Full Name
    DDB1 and CUL4 associated factor 8 like 2provided by HGNC
    Primary source
    HGNC:HGNC:31811
    See related
    Ensembl:ENSG00000189186 AllianceGenome:HGNC:31811
    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
    WDR42C
    Summary
    Predicted to be located in nucleus. Predicted to be part of Cul4-RING E3 ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See DCAF8L2 in Genome Data Viewer
    Location:
    Xp21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (27468941..27749942)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (27059269..27340732)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (27608461..27768059)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PTP4A1 pseudogene 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:27480372-27481571 Neighboring gene NANOG hESC enhancer GRCh37_chrX:27488313-27488871 Neighboring gene protein phosphatase 4 regulatory subunit 3C Neighboring gene radixin pseudogene 2 Neighboring gene RDX pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:27818821-27819333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:27819334-27819845 Neighboring gene MAGE family member B18 pseudogene Neighboring gene MAGE family member B10 Neighboring gene MAGE family member B3 pseudogene

    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. CRL4-DCAF8L2 E3 ligase promotes ubiquitination and degradation of BARD1. Deng J, et al. Biochem Biophys Res Commun, 2022 Jun 30. PMID 35487060
    2. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    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

    Phenotypes

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    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

    • FLJ32742

    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
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    DDB1- and CUL4-associated factor 8-like protein 2
    Names
    WD repeat domain 42C
    WD repeat-containing protein 42C

    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_001353448.2 → NP_001340377.1  DDB1- and CUL4-associated factor 8-like protein 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AC006210, AC079902, AC107613
      Consensus CDS
      CCDS59162.1
      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_001353449.2 → NP_001340378.1  DDB1- and CUL4-associated factor 8-like protein 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AC006210, AC079902, AC107613
      Consensus CDS
      CCDS59162.1
      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. NM_001353450.2 → NP_001340379.1  DDB1- and CUL4-associated factor 8-like protein 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
      Source sequence(s)
      AC006210, AC079902, AC107613
      Consensus CDS
      CCDS59162.1
      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Related
      ENSP00000462745.1, ENST00000451261.7
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. NR_148432.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' end compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
      Source sequence(s)
      AC006210, AC079902
      Related
      ENST00000580017.1

    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
      27468941..27749942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452372.2 → XP_024308140.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_024452371.2 → XP_024308139.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_024452373.2 → XP_024308141.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_024452374.2 → XP_024308142.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_024452377.2 → XP_024308145.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    6. XM_024452376.2 → XP_024308144.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH9, J3KT06, P0C7V8
      Related
      ENSP00000479800.1, ENST00000545306.2
      Conserved Domains (2) summary
      sd00039
      Location:233 → 269
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:224 → 540
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      27059269..27340732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326997.1 → XP_054182972.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

    2. XM_054326996.1 → XP_054182971.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

    3. XM_054326998.1 → XP_054182973.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

    4. XM_054326999.1 → XP_054182974.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

    5. XM_054327001.1 → XP_054182976.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

    6. XM_054327000.1 → XP_054182975.1  DDB1- and CUL4-associated factor 8-like protein 2 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001136533.1: Suppressed sequence

      Description
      NM_001136533.1: This RefSeq was removed because currently there is no support for the 5' end of the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7V8.2 GenPept UniProtKB/Swiss-Prot:P0C7V8

    Gene LinkOut

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

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