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

Gene ID: 347442, updated on 5-Mar-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 part of Cul4-RING E3 ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
all
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Genomic context

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Location:
Xp21.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (27468941..27749942)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (27059269..27340732)
105.20220307 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)

Genotypes

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
  

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_2023_10

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

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