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

Summary

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 autosomal recessive intellectual developmental disorder and hypogonadotropic hypogonadism 14 with or without anosmia. Orthologous to human WDR11 (WD repeat domain 11). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our study reveals a novel class of ciliopathy caused by WDR11 mutations and suggests that CHH/KS may be a part of the human ciliopathy spectrum.
Title: WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.

Submit: New GeneRIF Correction

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

NoName (e-PCR)
- UniSTS:235789

AW489876 (e-PCR)
- UniSTS:179657

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 intracellular protein transport	ISS Inferred from Sequence or Structural Similarity 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
involved_in vesicle tethering to Golgi	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
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 cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity 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
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity 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)

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

129193373..129237462

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...