Wdr62 WD repeat domain 62 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Wdr62provided by MGI
Official Full Name: WD repeat domain 62provided by MGI
Primary source: MGI:MGI:1923696
See related: Ensembl:ENSMUSG00000037020 AllianceGenome:MGI:1923696
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: b2b1508Clo; 2310038K02Rik
Summary: Predicted to be involved in several processes, including centriole replication; nervous system development; and positive regulation of neuroblast proliferation. Predicted to act upstream of or within mitotic spindle organization and neuronal stem cell population maintenance. Predicted to be located in cytosol; microtubule cytoskeleton; and nucleus. Predicted to be active in mitotic spindle. Is expressed in several structures, including brain; future brain; limb bud; nasal process; and trunk somite. Used to study primary autosomal recessive microcephaly 2 with or without cortical malformations. Human ortholog(s) of this gene implicated in intellectual disability; polymicrogyria; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 2 with or without cortical malformations. Orthologous to human WDR62 (WD repeat domain 62). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 134.7) and placenta adult (RPKM 7.0) See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 17.34 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (29939563..29980243, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (30240138..30281908, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice.
Title: WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice.
WDR62 regulates mouse oocyte meiotic maturation related to p-JNK and H3K9 trimethylation.
Title: WDR62 regulates mouse oocyte meiotic maturation related to p-JNK and H3K9 trimethylation.
WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis.
Title: WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis.
WDR62 is a novel participator in spindle migration and asymmetric cytokinesis during mouse oocyte meiotic maturation.
Title: WDR62 is a novel participator in spindle migration and asymmetric cytokinesis during mouse oocyte meiotic maturation.
The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.
Title: The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.
WDR62 is involved in spindle assembly by interacting with CEP170 in spermatogenesis
Title: WDR62 is involved in spindle assembly by interacting with CEP170 in spermatogenesis.
Study in mutant mice and human cerebral organoids showed that WDR62 deletion resulted in a reduction in the size of mouse brains and organoids due to the disruption of neural progenitor cells. WDR62 interacts with and promotes CEP170 localization to the basal body of primary cilium, where CEP170 recruits KIF2A to disassemble cilium.
Title: Modeling microcephaly with cerebral organoids reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly in neural progenitors.
Wdr62 is involved in meiotic initiation via activating JNK signaling, which displays a novel mechanism for regulating meiotic initiation, and mutation of WDR62 is one of the potential etiologies of premature ovarian insufficiency in humans.
Title: Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated with POI in humans.
Our findings demonstrate critical and diverse functions of WDR62 in neocortical development and provide insight into the mechanisms by which its disruption leads to a plethora of structural abnormalities.
Title: Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.
Aspm and Wdr62 interact genetically to control brain size, with mice lacking Wdr62, Aspm, or both showing gene dose-related centriole duplication defects that parallel the severity of the microcephaly and increased ectopic basal progenitors, suggesting premature delamination from the ventricular zone.
Title: Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Gene trapped (2)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_21491-21492:1032971416:1 (e-PCR)
- UniSTS:268560

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in centriole replication	ISO Inferred from Sequence Orthology more info
involved_in cerebral cortex development	ISO Inferred from Sequence Orthology more info
involved_in cerebral cortex development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within mitotic spindle organization	ISO Inferred from Sequence Orthology more info
involved_in neurogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuronal stem cell population maintenance	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuroblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron migration	ISO Inferred from Sequence Orthology more info
involved_in regulation of centrosome cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle pole	IEA Inferred from Electronic Annotation more info
located_in spindle pole	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: WD repeat-containing protein 62

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_001408660.1 → NP_001395589.1 WD repeat-containing protein 62 isoform 3

Status: VALIDATED

Source sequence(s)

AC149067
NM_001408661.1 → NP_001395590.1 WD repeat-containing protein 62 isoform 4

Status: VALIDATED

Source sequence(s)

AC149067
NM_001408662.1 → NP_001395591.1 WD repeat-containing protein 62 isoform 5

Status: VALIDATED

Source sequence(s)

AC149067
NM_001408663.1 → NP_001395592.1 WD repeat-containing protein 62 isoform 6

Status: VALIDATED

Source sequence(s)

AC149067
NM_001408664.1 → NP_001395593.1 WD repeat-containing protein 62 isoform 7

Status: VALIDATED

Source sequence(s)

AC149067
NM_001408665.1 → NP_001395594.1 WD repeat-containing protein 62 isoform 8

Status: VALIDATED

Source sequence(s)

AC149067
NM_001408666.1 → NP_001395595.1 WD repeat-containing protein 62 isoform 9

Status: VALIDATED

Source sequence(s)

AC149067
NM_001408667.1 → NP_001395596.1 WD repeat-containing protein 62 isoform 10

Status: VALIDATED

Source sequence(s)

AC149067
NM_001408668.1 → NP_001395597.1 WD repeat-containing protein 62 isoform 11

Status: VALIDATED

Source sequence(s)

AC149067
NM_146186.4 → NP_666298.4 WD repeat-containing protein 62 isoform 1

Status: VALIDATED

Source sequence(s)

AC149067, CD350442

Consensus CDS

CCDS52178.1

UniProtKB/Swiss-Prot

Q3U3T8, Q6PGG0, Q7TQE9

UniProtKB/TrEMBL

E9QK36

Related

ENSMUSP00000103825.2, ENSMUST00000108190.8

Conserved Domains (3) summary

sd00039
Location:537 → 578

7WD40; WD40 repeat [structural motif]

pfam15449
Location:1117 → 1403

Retinal; Retinal protein

cl29593
Location:364 → 742

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

NR_152437.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC149067

Related

ENSMUST00000145027.8
NR_176792.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC149067

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

29939563..29980243 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011250545.4 → XP_011248847.1 WD repeat-containing protein 62 isoform X10

UniProtKB/TrEMBL

E9QK36

Conserved Domains (3) summary

PHA03247
Location:1005 → 1511

PHA03247; large tegument protein UL36; Provisional

sd00039
Location:538 → 579

7WD40; WD40 repeat [structural motif]

cl29593
Location:365 → 743

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 ...
XM_011250543.4 → XP_011248845.1 WD repeat-containing protein 62 isoform X8

UniProtKB/TrEMBL

E9QK36

Conserved Domains (3) summary

PHA03247
Location:1009 → 1515

PHA03247; large tegument protein UL36; Provisional

sd00039
Location:538 → 579

7WD40; WD40 repeat [structural motif]

cl29593
Location:365 → 743

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 ...
XM_011250541.4 → XP_011248843.1 WD repeat-containing protein 62 isoform X2

UniProtKB/TrEMBL

E9QK36

Conserved Domains (2) summary

sd00039
Location:538 → 579

7WD40; WD40 repeat [structural motif]

cl29593
Location:365 → 743

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 ...
XM_006539877.5 → XP_006539940.1 WD repeat-containing protein 62 isoform X6

UniProtKB/TrEMBL

E9QK36

Conserved Domains (2) summary

sd00039
Location:538 → 579

7WD40; WD40 repeat [structural motif]

cl29593
Location:365 → 743

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 ...
XM_011250544.4 → XP_011248846.1 WD repeat-containing protein 62 isoform X9

UniProtKB/TrEMBL

E9QK36

Conserved Domains (2) summary

sd00039
Location:538 → 579

7WD40; WD40 repeat [structural motif]

cl29593
Location:365 → 743

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 ...
XM_011250542.4 → XP_011248844.1 WD repeat-containing protein 62 isoform X3

UniProtKB/TrEMBL

E9QK36

Conserved Domains (2) summary

sd00039
Location:538 → 579

7WD40; WD40 repeat [structural motif]

cl29593
Location:365 → 743

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 ...
XM_011250540.4 → XP_011248842.1 WD repeat-containing protein 62 isoform X1

UniProtKB/TrEMBL

E9QK36

Conserved Domains (3) summary

PHA03247
Location:1027 → 1533

PHA03247; large tegument protein UL36; Provisional

sd00039
Location:538 → 579

7WD40; WD40 repeat [structural motif]

cl29593
Location:365 → 743

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 ...
XM_030242457.1 → XP_030098317.1 WD repeat-containing protein 62 isoform X15

UniProtKB/TrEMBL

F6R9F0

Related

ENSMUSP00000116139.2, ENSMUST00000134570.8

Conserved Domains (2) summary

sd00039
Location:10 → 44

7WD40; WD40 repeat [structural motif]

cl29593
Location:4 → 256

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 ...