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Aliases for WDR62 Gene

Aliases for WDR62 Gene

  • WD Repeat Domain 62 2 3
  • C19orf14 3 4 6
  • Microcephaly, Primary Autosomal Recessive 2 2 3
  • MCPH2 3 6
  • Chromosome 19 Open Reading Frame 14 2
  • WD Repeat-Containing Protein 62 3
  • EC 2.7.11.1 63
  • EC 2.7.7.38 63

External Ids for WDR62 Gene

Previous HGNC Symbols for WDR62 Gene

  • C19orf14
  • MCPH2

Previous GeneCards Identifiers for WDR62 Gene

  • GC19P041240
  • GC19P036545
  • GC19P033051

Summaries for WDR62 Gene

Entrez Gene Summary for WDR62 Gene

  • This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

GeneCards Summary for WDR62 Gene

WDR62 (WD Repeat Domain 62) is a Protein Coding gene. Diseases associated with WDR62 include microcephaly 2, primary, autosomal recessive, with or without cortical malformations and microcephaly, cortical malformations, and mental retardation. An important paralog of this gene is MAPKBP1.

UniProtKB/Swiss-Prot for WDR62 Gene

  • Required for cerebral cortical development. Plays a role in neuronal proliferation and migration.

Gene Wiki entry for WDR62 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR62 Gene

Genomics for WDR62 Gene

Regulatory Elements for WDR62 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for WDR62 Gene

Start:
36,054,881 bp from pter
End:
36,105,110 bp from pter
Size:
50,230 bases
Orientation:
Plus strand

Genomic View for WDR62 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for WDR62 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR62 Gene

Proteins for WDR62 Gene

  • Protein details for WDR62 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43379-WDR62_HUMAN
    Recommended name:
    WD repeat-containing protein 62
    Protein Accession:
    O43379
    Secondary Accessions:
    • Q63HP9
    • Q659D7
    • Q8NBF7
    • Q96AD9

    Protein attributes for WDR62 Gene

    Size:
    1518 amino acids
    Molecular mass:
    165954 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC27979.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH17261.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for WDR62 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR62 Gene

Proteomics data for WDR62 Gene at MOPED

Selected DME Specific Peptides for WDR62 Gene

Post-translational modifications for WDR62 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WDR62 Gene

Domains for WDR62 Gene

Gene Families for WDR62 Gene

HGNC:
  • WDR :WD repeat domain containing

Suggested Antigen Peptide Sequences for WDR62 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43379

UniProtKB/Swiss-Prot:

WDR62_HUMAN :
  • O43379
Similarity:
  • Contains 15 WD repeats.
genes like me logo Genes that share domains with WDR62: view

Function for WDR62 Gene

Molecular function for WDR62 Gene

UniProtKB/Swiss-Prot Function:
Required for cerebral cortical development. Plays a role in neuronal proliferation and migration.

Enzyme Numbers (IUBMB) for WDR62 Gene

Gene Ontology (GO) - Molecular Function for WDR62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with WDR62: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WDR62

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for WDR62 Gene

Localization for WDR62 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR62 Gene

Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WDR62 Gene COMPARTMENTS Subcellular localization image for WDR62 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for WDR62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 20890278
GO:0005634 nucleus IDA 20729831
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with WDR62: view

Pathways for WDR62 Gene

SuperPathways for WDR62 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021987 cerebral cortex development IMP 20729831
GO:0022008 neurogenesis IMP 20890278
genes like me logo Genes that share ontologies with WDR62: view

No data available for Pathways by source for WDR62 Gene

Transcripts for WDR62 Gene

Unigene Clusters for WDR62 Gene

WD repeat domain 62:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WDR62

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WDR62 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8: -

ExUns: 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for WDR62 Gene

GeneLoc Exon Structure for
WDR62
ECgene alternative splicing isoforms for
WDR62

Expression for WDR62 Gene

mRNA expression in normal human tissues for WDR62 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WDR62 Gene

This gene is overexpressed in Testis (24.5), Heart - Left Ventricle (4.5), and Muscle - Skeletal (4.0).

Protein differential expression in normal tissues for WDR62 Gene

This gene is overexpressed in Testis (34.0), Ovary (21.4), and Plasma (13.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for WDR62 Gene

SOURCE GeneReport for Unigene cluster for WDR62 Gene Hs.116244

mRNA Expression by UniProt/SwissProt for WDR62 Gene

O43379-WDR62_HUMAN
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.
genes like me logo Genes that share expressions with WDR62: view

Expression partners for WDR62 Gene

In Situ Assay Products

Orthologs for WDR62 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR62 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WDR62 35
  • 84.86 (n)
  • 81.52 (a)
WDR62 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR62 35
  • 85.58 (n)
  • 83.84 (a)
WDR62 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr62 35
  • 82.32 (n)
  • 79.95 (a)
Wdr62 16
Wdr62 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WDR62 35
  • 99.45 (n)
  • 98.88 (a)
WDR62 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr62 35
  • 82.4 (n)
  • 79.06 (a)
oppossum
(Monodelphis domestica)
Mammalia WDR62 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR62 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR62 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr62 35
  • 51.58 (n)
  • 46.03 (a)
zebrafish
(Danio rerio)
Actinopterygii wdr62 35
  • 55.16 (n)
  • 47.45 (a)
WDR62 36
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7337 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H24G06.1 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for WDR62:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WDR62 Gene

ENSEMBL:
Gene Tree for WDR62 (if available)
TreeFam:
Gene Tree for WDR62 (if available)

Paralogs for WDR62 Gene

Paralogs for WDR62 Gene

Selected SIMAP similar genes for WDR62 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for WDR62 Gene

genes like me logo Genes that share paralogs with WDR62: view

Variants for WDR62 Gene

Sequence variations from dbSNP and Humsavar for WDR62 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs721542 -- 36,074,020(+) AAGAC(A/G)gggca intron-variant
rs723701 -- 36,084,452(+) GCCTG(A/C)TGAGG intron-variant
rs757223 -- 36,083,896(+) AGTGC(C/T)GATTT intron-variant
rs1008328 Benign, - 36,104,534(+) CTGTT(A/C)CAGGG reference, missense
rs1016992 -- 36,083,382(+) AACAG(A/C)TCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WDR62 Gene

Variant ID Type Subtype PubMed ID
nsv833815 CNV Loss 17160897

Relevant External Links for WDR62 Gene

HapMap Linkage Disequilibrium report
WDR62
Human Gene Mutation Database (HGMD)
WDR62

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR62 Gene

Disorders for WDR62 Gene

(1) OMIM Diseases for WDR62 Gene (613583)

UniProtKB/Swiss-Prot

WDR62_HUMAN
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]: A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures. {ECO:0000269 PubMed:20729831, ECO:0000269 PubMed:20890278, ECO:0000269 PubMed:20890279, ECO:0000269 PubMed:21496009}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for WDR62 Gene

genes like me logo Genes that share disorders with WDR62: view

No data available for Novoseek inferred disease relationships , Genatlas and External Links for WDR62 Gene

Publications for WDR62 Gene

  1. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. (PMID: 20729831) Bilguvar K. … Gunel M. (Nature 2010) 2 3 4
  2. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. (PMID: 20890278) Yu T.W. … Walsh C.A. (Nat. Genet. 2010) 2 3 4
  3. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. (PMID: 21496009) Bhat V. … Kumar A. (Clin. Genet. 2011) 2 3 4
  4. WDR62 is associated with the spindle pole and is mutated in human microcephaly. (PMID: 20890279) Nicholas A.K. … Woods C.G. (Nat. Genet. 2010) 3 4
  5. A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation. (PMID: 19910486) Wasserman T. … Aronheim A. (Mol. Biol. Cell 2010) 2 3

Products for WDR62 Gene

Sources for WDR62 Gene

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