Human Gene WDR7 (uc002lgk.1)
  Description: Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.
RefSeq Summary (NM_015285): 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) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr18:54,318,616-54,697,036 Size: 378,421 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr18:54,339,747-54,694,438 Size: 354,692 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:54,318,616-54,697,036)mRNA (may differ from genome)Protein (1490 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR7_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 7; AltName: Full=Rabconnectin-3 beta; AltName: Full=TGF-beta resistance-associated protein TRAG;
SIMILARITY: Contains 9 WD repeats.
SEQUENCE CAUTION: Sequence=BAA25467.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): WDR7
CDC HuGE Published Literature: WDR7
Positive Disease Associations: Albumins , Alcoholism , Echocardiography , Hematocrit , Hemoglobins , Multiple Sclerosis , multiple sclerosis (age of onset)
Related Studies:
  1. Albumins
    , , . [PubMed 0]
  2. Alcoholism
    Alexis C Edwards et al. Psychiatric genetics 2012, Genome-wide association study of comorbid depressive syndrome and alcohol dependence., Psychiatric genetics. [PubMed 22064162]
    These results underscore the complex genomic influences on psychiatric phenotypes and suggest that a comorbid phenotype is partially influenced by genetic variants that do not affect AD alone.
  3. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: WDR7
Diseases sorted by gene-association score: retinitis pigmentosa 4, autosomal dominant or recessive (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.67 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 163.09 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -70.84211-0.336 Picture PostScript Text
3' UTR -725.772598-0.279 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
IPR011047 - Quinonprotein_ADH-like
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

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

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9Y4E6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0002244 hematopoietic progenitor cell differentiation

Cellular Component:
GO:0005737 cytoplasm
GO:0008021 synaptic vesicle


-  Descriptions from all associated GenBank mRNAs
  AK057141 - Homo sapiens cDNA FLJ32579 fis, clone SPLEN2000267, highly similar to Rattus norvegicus TGF-beta resistance-associated protein (TRAG) mRNA.
AB011113 - Homo sapiens KIAA0541 mRNA for KIAA0541 protein.
BC150282 - Homo sapiens WD repeat domain 7, mRNA (cDNA clone MGC:166898 IMAGE:9007268), complete cds.
KJ902327 - Synthetic construct Homo sapiens clone ccsbBroadEn_11721 WDR7 gene, encodes complete protein.
AB384493 - Synthetic construct DNA, clone: pF1KA0541, Homo sapiens WDR7 gene for WD repeat protein 7, complete cds, without stop codon, in Flexi system.
AF188125 - Homo sapiens TGF-beta resistance-associated protein TRAG (TRAG) mRNA, partial cds.
AY099325 - Homo sapiens rabconnectin-3 beta mRNA, complete cds.
BC131558 - Homo sapiens WD repeat domain 7, mRNA (cDNA clone MGC:148099 IMAGE:40108655), complete cds.
BC050352 - Homo sapiens WD repeat domain 7, mRNA (cDNA clone IMAGE:5265024), partial cds.
JD424006 - Sequence 405030 from Patent EP1572962.
JD251045 - Sequence 232069 from Patent EP1572962.
JD093203 - Sequence 74227 from Patent EP1572962.
JD473981 - Sequence 455005 from Patent EP1572962.
JD139717 - Sequence 120741 from Patent EP1572962.
JD183118 - Sequence 164142 from Patent EP1572962.
JD082112 - Sequence 63136 from Patent EP1572962.
JD368228 - Sequence 349252 from Patent EP1572962.
JD061154 - Sequence 42178 from Patent EP1572962.
JD162267 - Sequence 143291 from Patent EP1572962.
JD331929 - Sequence 312953 from Patent EP1572962.
JD099636 - Sequence 80660 from Patent EP1572962.
JD419968 - Sequence 400992 from Patent EP1572962.
JD316373 - Sequence 297397 from Patent EP1572962.
JD102648 - Sequence 83672 from Patent EP1572962.
JD418531 - Sequence 399555 from Patent EP1572962.
JD510480 - Sequence 491504 from Patent EP1572962.
JD243797 - Sequence 224821 from Patent EP1572962.
JD239223 - Sequence 220247 from Patent EP1572962.
JD046938 - Sequence 27962 from Patent EP1572962.
JD507724 - Sequence 488748 from Patent EP1572962.
JD389302 - Sequence 370326 from Patent EP1572962.
JD382564 - Sequence 363588 from Patent EP1572962.
JD296961 - Sequence 277985 from Patent EP1572962.
JD053677 - Sequence 34701 from Patent EP1572962.
JD553574 - Sequence 534598 from Patent EP1572962.
JD244880 - Sequence 225904 from Patent EP1572962.
JD350238 - Sequence 331262 from Patent EP1572962.
JD180838 - Sequence 161862 from Patent EP1572962.
JD305605 - Sequence 286629 from Patent EP1572962.
JD328907 - Sequence 309931 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A7E2C8, KIAA0541, NM_015285, NP_056100, Q86UX5, Q86VP2, Q96PS7, Q9Y4E6, TRAG, WDR7_HUMAN
UCSC ID: uc002lgk.1
RefSeq Accession: NM_015285
Protein: Q9Y4E6 (aka WDR7_HUMAN)
CCDS: CCDS11962.1, CCDS11963.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015285.2
exon count: 28CDS single in 3' UTR: no RNA size: 7282
ORF size: 4473CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 9129.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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