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

Gene ID: 340578, updated on 28-Oct-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

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