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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011786.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DCAF12L2
         Other transcription factors

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   Search SABiosciences Chromatin IP Primers for DCAF12L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VW00

  • DCAF12L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DCAF12L2 Protein Expression
    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)
    About This Section
    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


    DCAF12L2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    DCAF12L2 for ontologies           About GeneDecksing


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

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DCAF12L2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for DCAF12L2 (ENSP000003531284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBX6ENSP000003844904STRING: ENSP00000384490
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DCAF12L2 (DC122)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See DCAF12L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DCAF12L2

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCAF12L2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DCAF12L2 gene from 2/5 species (see all 5)    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)
    About This Section
    Paralogs for DCAF12L2 gene
    DCAF12L12  DCAF122  
    2 SIMAP similar genes for DCAF12L2 using alignment to 1 protein entry:     DC122_HUMAN:
    DCAF12L1    DCAF12

    DCAF12L2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/91 SNPs in DCAF12L2 are shown (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


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

    (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)
    About This Section

    PubMed articles for DCAF12L2 gene integrated from 9 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 revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (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. (2006)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 340578 HGNC: 32950 AceView: LOC340578.1 Ensembl:ENSG00000198354 euGenes: HUgn340578
    ECgene: DCAF12L2 H-InvDB: DCAF12L2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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