• Gene id: 284403

Gene Summary

• Gene Symbol: WDR62   Gene   UCSC   Ensembl
• Aliases: C19orf14, MCPH2
• Gene name: WD repeat domain 62
• Alternate names: WD repeat-containing protein 62, microcephaly, primary autosomal recessive 2, truncated WDR62,
• Gene location: 19q13.12 (36054880: 36111144)     Exons: 17     NC_000019.10
• Gene summary(Entrez): This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provid
• OMIM: 613583

Protein Summary

• Protein general information: O43379  
  • Name: WD repeat containing protein 62
  • Length: 1518  
  • Mass: 165954
  • Tissue specificity: Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells. {ECO
• Sequence:

  MAAVGSGGYARNDAGEKLPSVMAGVPARRGQSSPPPAPPICLRRRTRLSTASEETVQNRVSLEKVLGITAQNSSG
  LTCDPGTGHVAYLAGCVVVILDPKENKQQHIFNTARKSLSALAFSPDGKYIVTGENGHRPAVRIWDVEEKNQVAE
  MLGHKYGVACVAFSPNMKHIVSMGYQHDMVLNVWDWKKDIVVASNKVSCRVIALSFSEDSSYFVTVGNRHVRFWF
  LEVSTETKVTSTVPLVGRSGILGELHNNIFCGVACGRGRMAGSTFCVSYSGLLCQFNEKRVLEKWINLKVSLSSC
  LCVSQELIFCGCTDGIVRIFQAHSLHYLANLPKPHYLGVDVAQGLEPSFLFHRKAEAVYPDTVALTFDPIHQWLS
  CVYKDHSIYIWDVKDINRVGKVWSELFHSSYVWNVEVYPEFEDQRACLPSGSFLTCSSDNTIRFWNLDSSPDSHW
  QKNIFSNTLLKVVYVENDIQHLQDMSHFPDRGSENGTPMDVKAGVRVMQVSPDGQHLASGDRSGNLRIHELHFMD
  ELVKVEAHDAEVLCLEYSKPETGLTLLASASRDRLIHVLNVEKNYNLEQTLDDHSSSITAIKFAGNRDIQMISCG
  ADKSIYFRSAQQGSDGLHFVRTHHVAEKTTLYDMDIDITQKYVAVACQDRNVRVYNTVNGKQKKCYKGSQGDEGS
  LLKVHVDPSGTFLATSCSDKSISVIDFYSGECIAKMFGHSEIITSMKFTYDCHHLITVSGDSCVFIWHLGPEITN
  CMKQHLLEIDHRQQQQHTNDKKRSGHPRQDTYVSTPSEIHSLSPGEQTEDDLEEECEPEEMLKTPSKDSLDPDPR
  CLLTNGKLPLWAKRLLGDDDVADGLAFHAKRSYQPHGRWAERAGQEPLKTILDAQDLDCYFTPMKPESLENSILD
  SLEPQSLASLLSESESPQEAGRGHPSFLPQQKESSEASELILYSLEAEVTVTGTDSQYCRKEVEAGPGDQQGDSY
  LRVSSDSPKDQSPPEDSGESEADLECSFAAIHSPAPPPDPAPRFATSLPHFPGCAGPTEDELSLPEGPSVPSSSL
  PQTPEQEKFLRHHFETLTESPCRALGDVEASEAEDHFFNPRLSISTQFLSSLQKASRFTHTFPPRATQCLVKSPE
  VKLMDRGGSQPRAGTGYASPDRTHVLAAGKAEETLEAWRPPPPCLTSLASCVPASSVLPTDRNLPTPTSAPTPGL
  AQGVHAPSTCSYMEATASSRARISRSISLGDSEGPIVATLAQPLRRPSSVGELASLGQELQAITTATTPSLDSEG
  QEPALRSWGNHEARANLRLTLSSACDGLLQPPVDTQPGVTVPAVSFPAPSPVEESALRLHGSAFRPSLPAPESPG
  LPAHPSNPQLPEARPGIPGGTASLLEPTSGALGLLQGSPARWSEPWVPVEALPPSPLELSRVGNILHRLQTTFQE
  ALDLYRVLVSSGQVDTGQQQARTELVSTFLWIHSQLEAECLVGTSVAPAQALPSPGPPSPPTLYPLASPDLQALL
  EHYSELLVQAVRRKARGH

• Structural information:
  • Interpro: IPR024977  IPR011047  IPR015943  IPR001680  IPR017986   IPR036322  
  • Prosite: PS50082 PS50294
  • DIP: 56792
  • STRING: ENSP00000384792
• Other Databases: GeneCards:  WDR62  Malacards:  WDR62

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022008	neurogenesis	IBA	biological process
GO:0007052	mitotic spindle organization	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000922	spindle pole	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0007099	centriole replication	IMP	biological process
GO:0022008	neurogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0021987	cerebral cortex development	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007052	mitotic spindle organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005814	centriole	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Primary autosomal recessive microcephaly 2 with or without cortical malformations	PMID:21496009
Primary autosomal recessive microcephaly	PMID:25303973
Intellectual disability	PMID:24479948
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray