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Wdr11 WD repeat domain 11 [ Mus musculus (house mouse) ]

Gene ID: 207425, updated on 9-Aug-2024

Summary

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Official Symbol
Wdr11provided by MGI
Official Full Name
WD repeat domain 11provided by MGI
Primary source
MGI:MGI:1920230
See related
Ensembl:ENSMUSG00000042055 AllianceGenome:MGI:1920230
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Brwd2; mKIAA1351; 2900055P10Rik
Summary
Involved in several processes, including cilium assembly; heart development; and regulation of smoothened signaling pathway. Located in axoneme; ciliary basal body; and nucleus. Is expressed in several structures, including central nervous system; frontal bone primordium; metanephros; otic capsule; and submandibular gland primordium. Used to study Kallmann syndrome and ciliopathy. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism 14 with or without anosmia. Orthologous to human WDR11 (WD repeat domain 11). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 10.9), CNS E11.5 (RPKM 9.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Wdr11 in Genome Data Viewer
Location:
7 F3; 7 72.37 cM
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (129193373..129237462)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (129591694..129635738)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene phospholipid phosphatase 4 Neighboring gene STARR-seq mESC enhancer starr_20221 Neighboring gene STARR-seq mESC enhancer starr_20222 Neighboring gene STARR-seq mESC enhancer starr_20226 Neighboring gene predicted gene, 33027 Neighboring gene STARR-seq mESC enhancer starr_20231 Neighboring gene STARR-seq mESC enhancer starr_20232 Neighboring gene STARR-seq mESC enhancer starr_20233 Neighboring gene STARR-seq mESC enhancer starr_20234 Neighboring gene STARR-positive B cell enhancer mm9_chr7:136735231-136735532 Neighboring gene predicted gene, 33122 Neighboring gene predicted gene, 51499 Neighboring gene predicted gene, 39094

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. In vivo dissection of a clustered-CTCF domain boundary reveals developmental principles of regulatory insulation. Anania C, et al. Nat Genet, 2022 Jul. PMID 35817979, Free PMC Article
  2. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Kim HG, et al. Am J Hum Genet, 2010 Oct 8. PMID 20887964, Free PMC Article
  3. Proteomic analysis of mammalian primary cilia. Ishikawa H, et al. Curr Biol, 2012 Mar 6. PMID 22326026, Free PMC Article
  4. WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. Kim YJ, et al. EMBO Rep, 2018 Feb. PMID 29263200, Free PMC Article
  5. Development of an efficient screening system to identify novel bone metabolism-related genes using the exchangeable gene trap mutagenesis mouse models. Kurogi S, et al. Sci Rep, 2017 Jan 20. PMID 28106071, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC47139

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in head development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular protein transport ISO
Inferred from Sequence Orthology
more info
  
involved_in multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of smoothened signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle tethering to Golgi ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in microtubule cytoskeleton ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in trans-Golgi network ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
WD repeat-containing protein 11
Names
bromodomain and WD repeat domain containing 2
bromodomain and WD repeat-containing protein 2

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.

mRNA and Protein(s)

  1. NM_172255.3 → NP_758459.2  WD repeat-containing protein 11

    See identical proteins and their annotated locations for NP_758459.2

    Status: VALIDATED

    Source sequence(s)
    AC104753, AK043051, AK173155, AW489876, CK638976
    Consensus CDS
    CCDS40155.1
    UniProtKB/Swiss-Prot
    Q69ZL3, Q8C937, Q8K1X1
    UniProtKB/TrEMBL
    G5E8J3
    Related
    ENSMUSP00000081567.6, ENSMUST00000084519.7
    Conserved Domains (3) summary
    COG2319
    Location:474 → 832
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:713 → 746
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:484 → 819
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    129193373..129237462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030242306.2 → XP_030098166.1  WD repeat-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    Q69ZL3, Q8C937, Q8K1X1
    Conserved Domains (3) summary
    COG2319
    Location:474 → 832
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:713 → 746
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:8 → 168
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. XR_004934048.1 RNA Sequence

  2. XR_378226.5 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K1X1.1 GenPept UniProtKB/Swiss-Prot:Q8K1X1

Gene LinkOut

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