Human Gene DCAF12L2 (ENST00000360028.4) Description and Page Index
  Description: Homo sapiens DDB1 and CUL4 associated factor 12 like 2 (DCAF12L2), mRNA. (from RefSeq NM_001013628)
RefSeq Summary (NM_001013628): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript is intronless :: SRR1803612.100109.1, SRR1660809.50847.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000360028.4/ ENSP00000353128.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000360028.4
Gencode Gene: ENSG00000198354.7
Transcript (Including UTRs)
   Position: hg38 chrX:126,163,499-126,166,289 Size: 2,791 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg38 chrX:126,164,533-126,165,924 Size: 1,392 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionRNA Structure
Protein StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:126,163,499-126,166,289)mRNA (may differ from genome)Protein (463 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtPubMedStanford SOURCE
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: DC122_HUMAN
DESCRIPTION: RecName: Full=DDB1- and CUL4-associated factor 12-like protein 2; AltName: Full=WD repeat-containing protein 40C;
SIMILARITY: Belongs to the WD repeat DCAF12 family.
SIMILARITY: Contains 4 WD repeats.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.95 RPKM in Testis
Total median expression: 23.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -129.10365-0.354 Picture PostScript Text
3' UTR -248.901034-0.241 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q5VW00
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
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Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  KJ896082 - Synthetic construct Homo sapiens clone ccsbBroadEn_05476 DCAF12L2 gene, encodes complete protein.
AY726580 - Homo sapiens clone TESTIS-814 mRNA sequence.
BC136673 - Homo sapiens WD repeat domain 40C, mRNA (cDNA clone MGC:168286 IMAGE:9020663), complete cds.
BC136674 - Homo sapiens WD repeat domain 40C, mRNA (cDNA clone MGC:168287 IMAGE:9020664), complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RN42, DC122_HUMAN, NM_001013628, Q5VW00, uc004euk.1, uc004euk.2, uc004euk.3, uc004euk.4, uc004euk.5, WDR40C
UCSC ID: uc004euk.5
RefSeq Accession: NM_001013628
Protein: Q5VW00 (aka DC122_HUMAN)
CCDS: CCDS43991.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.