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Aliases for WDR62 Gene

Aliases for WDR62 Gene

  • WD Repeat Domain 62 2 3 5
  • Microcephaly, Primary Autosomal Recessive 2 2 3
  • C19orf14 3 4
  • Chromosome 19 Open Reading Frame 14 2
  • Truncated WDR62 3
  • EC 2.7.11.1 63
  • EC 2.7.7.38 63
  • MCPH2 3

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 autosomal recessive primary microcephaly. An important paralog of this gene is CFAP52.

UniProtKB/Swiss-Prot for WDR62 Gene

  • Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).

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

Promoters for WDR62 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WDR62 on UCSC Golden Path with GeneCards custom track

Genomic Location for WDR62 Gene

Chromosome:
19
Start:
36,054,881 bp from pter
End:
36,105,111 bp from pter
Size:
50,231 bases
Orientation:
Plus strand

Genomic View for WDR62 Gene

Genes around WDR62 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR62 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Interacts with CDK5RAP2, CEP152, CEP63 and KIAA0753 (PubMed:26297806). CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:26297806).
    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 & Families for WDR62 Gene

Gene Families for WDR62 Gene

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 :
  • Contains 15 WD repeats.
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 (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).

Enzyme Numbers (IUBMB) for WDR62 Gene

Human Phenotype Ontology for WDR62 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR62 Gene

Localization for WDR62 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR62 Gene

Nucleus. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis. Colocalizes with CDK5RAP2, CEP152 and WDR62 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. {ECO:0000269 PubMed:20890278, ECO:0000269 PubMed:26297806}.

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

Pathways & Interactions 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:0022008 neurogenesis IMP 20890278
genes like me logo Genes that share ontologies with WDR62: view

No data available for Pathways by source and SIGNOR curated interactions for WDR62 Gene

Drugs & Compounds for WDR62 Gene

No Compound Related Data Available

Transcripts for WDR62 Gene

Unigene Clusters for WDR62 Gene

WD repeat domain 62:
Representative Sequences:

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 (x24.5), Heart - Left Ventricle (x4.5), and Muscle - Skeletal (x4.0).

Protein differential expression in normal tissues from HIPED for WDR62 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with WDR62: view

Protein tissue co-expression partners for WDR62 Gene

- Elite partner

Primer Products

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

(3) 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
rs2285745 - 36,099,427(+) TGGCT(C/T)GGCCT reference, missense
rs17851503 - 36,103,951(+) CTGGC(A/G)GCACT reference, missense
rs1008328 - 36,104,534(+) CTGTT(A/C)CAGGG reference, missense
rs12327568 - 36,067,994(+) GGAGA(A/G)GTGGA reference, missense
rs2074435 - 36,103,757(+) CCTGC(A/T)GCCCC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv833815 CNV Loss 17160897

Variation tolerance for WDR62 Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.70% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(13) MalaCards diseases for WDR62 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search WDR62 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for WDR62

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WDR62
genes like me logo Genes that share disorders with WDR62: view

No data available for Genatlas for WDR62 Gene

Publications for WDR62 Gene

  1. 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 67
  2. 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
  3. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. (PMID: 20729831) Bilguvar K. … Gunel M. (Nature 2010) 2 3
  4. 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
  5. Variants in CUL4B are associated with cerebral malformations. (PMID: 25385192) Vulto-van Silfhout A.T. … de Brouwer A.P. (Hum. Mutat. 2015) 3

Products for WDR62 Gene

Sources for WDR62 Gene

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