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DCAF12L2 Gene

protein-coding   GIFtS: 41
GCID: GC0XM125298

DDB1 And CUL4 Associated Factor 12-Like 2

(Previous name: WD repeat domain 40C)
(Previous symbol: WDR40C)
  Search for DCAF12L2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DDB1 And CUL4 Associated Factor 12-Like 21 2
WDR40C1 2 3
WD Repeat-Containing Protein 40C2 3
WD Repeat Domain 40C1
DDB1- And CUL4-Associated Factor 12-Like Protein 22

External Ids:    HGNC: 329501   Entrez Gene: 3405782   Ensembl: ENSG000001983547   UniProtKB: Q5VW003   

Export aliases for DCAF12L2 gene to outside databases

Previous GC identifers: GC0XM125127 GC0XM114677


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DCAF12L2 Gene:
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)

GeneCards Summary for DCAF12L2 Gene:
DCAF12L2 (DDB1 and CUL4 associated factor 12-like 2) is a protein-coding gene. An important paralog of this gene is DCAF12L1.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for DCAF12L2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DCAF12L2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq25   Ensembl cytogenetic band:  Xq25   HGNC cytogenetic band: Xq25

DCAF12L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCAF12L2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM125298:  view genomic region     (about GC identifiers)

Start:
125,297,482 bp from pter      End:
125,300,080 bp from pter
Size:
2,599 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DC122_HUMAN, Q5VW00 (See protein sequence)
Recommended Name: DDB1- and CUL4-associated factor 12-like protein 2  
Size: 463 amino acids; 50803 Da
Secondary accessions: B2RN42

Explore the universe of human proteins at neXtProt for DCAF12L2: NX_Q5VW00

Explore proteomics data for DCAF12L2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DCAF12L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001013650.1  
    ENSEMBL proteins: 
     ENSP00000353128   ENSP00000441489  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q5VW00

    ProtoNet protein and cluster: Q5VW00

    UniProtKB/Swiss-Prot: DC122_HUMAN, Q5VW00
    Similarity: Belongs to the WD repeat DCAF12 family
    Similarity: Contains 4 WD repeats


    Find genes that share domains with DCAF12L2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with DCAF12L2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DCAF12L2:
     Increased G1 DNA content 

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DCAF12L2
    Interactions:

        Search GeneGlobe Interaction Network for DCAF12L2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for DCAF12L2 (ENSP000003531284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBX6ENSP000003844904STRING: ENSP00000384490
    CCT4ENSP000003779584STRING: ENSP00000377958
    CCT3ENSP000003572444STRING: ENSP00000357244
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DCAF12L2 (DC122)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DCAF12L2 gene: 
    NM_001013628.2  

    Unigene Cluster for DCAF12L2:

    DDB1 and CUL4 associated factor 12-like 2
    Hs.181867  [show with all ESTs]
    Unigene Representative Sequence: NM_001013628
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360028(uc004euk.2) ENST00000538699
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    hsa-miR-2052 hsa-miR-9* hsa-miR-34b
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    Additional mRNA sequence: 

    AY726580.1 BC136673.1 BC136674.1 

    2 DOTS entries:

    DT.40259363  DT.40124153 

    1 AceView cDNA sequence:

    BM546996 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DCAF12L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATAATTCTG
    DCAF12L2 Expression
    About this image

    DCAF12L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DCAF12L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.181867
        Custom PCR Arrays for DCAF12L2
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DCAF12L2 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dcaf12l21 , 5 DDB1 and CUL4 associated factor 12-like 21, 5 80.06(n)1
    83.15(a)1
      X (23.85 cM)5
    2454031  NM_175539.31  NP_780748.11 
     443654585 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG33136
    --
    38(a)
    1 → many
    3R(7840665-7842753)


    ENSEMBL Gene Tree for DCAF12L2 (if available)
    TreeFam Gene Tree for DCAF12L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DCAF12L2 gene
    DCAF12L12  DCAF122  
    2 SIMAP similar genes for DCAF12L2 using alignment to 1 protein entry:     DC122_HUMAN:
    DCAF12L1    DCAF12

    Find genes that share paralogs with DCAF12L2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DCAF12L2 (see all 91)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105366101,2
    C--125252167(+) AACAC-/AAAT  
            
    AAAGA
    1 -- ds50010--------
    rs735488951,2
    C,F--125252344(+) TAAATG/AAAAAA 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs2014088141,2
    --125252366(+) TCAAC-/TTTTAA 1 -- ds50010--------
    rs113686031,2
    C--125252369(+) ACTTT-/AAAAAA 1 -- ds50010--------
    rs78871881,2
    C,F,A,H--125252417(+) ATAACG/ATATTC 1 -- ds500116Minor allele frequency- A:0.25NS EA NA WA 1985
    rs1849868151,2
    --125253033(+) CTATAA/CAAACA 1 -- ut310--------
    rs1894959951,2
    --125253328(+) AGGGTA/TTGTGA 1 -- ut310--------
    rs1821378581,2
    --125253520(+) GCACAC/TGTAAG 1 -- ut310--------
    rs59779331,2
    C--125253618(+) AGGTAA/CACCTG 1 -- ut312Minor allele frequency- C:0.00NA 4
    rs1396765191,2
    C--125253631(+) CACTTC/TGAGAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DCAF12L2 (125297482 - 125300080 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DCAF12L2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519795CNV Gain19592680
    nsv524503CNV Gain19592680

    Locus Specific Mutation Databases (LSDB): DCAF12L2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DCAF12L2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DCAF12L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    2. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PubMed id 16949367)1 Jin J.... Walter J.C. (Mol. Cell 2006)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 340578 HGNC: 32950 AceView: LOC340578.1 Ensembl:ENSG00000198354 euGenes: HUgn340578
    ECgene: DCAF12L2 H-InvDB: DCAF12L2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DCAF12L2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DCAF12L2 gene:
    Search GeneIP for patents involving DCAF12L2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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