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. [provided by RefSeq, Jan 2011] See more...

Aliases for WDR62 Gene

Aliases for WDR62 Gene

  • WD Repeat Domain 62 2 3 5
  • Microcephaly, Primary Autosomal Recessive 2 2 3
  • WD Repeat-Containing Protein 62 3 4
  • C19orf14 3 4
  • Chromosome 19 Open Reading Frame 14 2
  • Truncated WDR62 3
  • DKFZP434J046 2
  • EC 2.7.11.1 51
  • EC 2.7.7.38 51
  • FLJ33298 2
  • MCPH2 3
  • WDR62 5

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 cognitive disability. 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 Neuronal Migration Disorders. An important paralog of this gene is MAPKBP1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR62 Gene

Genomics for WDR62 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for WDR62 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR62 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR62

Top Transcription factor binding sites by QIAGEN in the WDR62 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • E47
  • LCR-F1
  • NF-Y
  • Pax-5
  • Sp1

Genomic Locations for WDR62 Gene

Genomic Locations for WDR62 Gene
chr19:36,054,881-36,111,145
(GRCh38/hg38)
Size:
56,265 bases
Orientation:
Plus strand
chr19:36,545,783-36,596,012
(GRCh37/hg19)
Size:
50,230 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:
    • Can form homodimers (via C-terminus) (PubMed:23341463). Interacts (via C-terminus) with MAPKBP1 (via C-terminus) (PubMed:23341463, PubMed:28089251). 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=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for WDR62 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR62 Gene

Selected DME Specific Peptides for WDR62 Gene

O43379:
  • QCLVKSP
  • LPPSPLE

Post-translational modifications for WDR62 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for WDR62 Gene

Gene Families for WDR62 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for WDR62 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat-containing protein 62 (WDR62_HUMAN)
genes like me logo Genes that share domains with WDR62: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for WDR62 Gene

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

Gene Ontology (GO) - Molecular Function for WDR62 Gene

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

Human Phenotype Ontology for WDR62 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WDR62 Gene

MGI Knock Outs for WDR62:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR62

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDR62 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDR62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IBA,IDA 20890278
GO:0005634 nucleus IBA,IDA 20729831
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 26297806
GO:0005814 centriole IEA --
genes like me logo Genes that share ontologies with WDR62: view

Pathways & Interactions for WDR62 Gene

PathCards logo

SuperPathways for WDR62 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007052 mitotic spindle organization IMP 24388750
GO:0007099 centriole replication IMP 26297806
GO:0007399 nervous system development IEA --
GO:0021987 cerebral cortex development IMP 20729831
GO:0022008 neurogenesis IBA,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

mRNA/cDNA for WDR62 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR62

Clone 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

Expression for WDR62 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for WDR62 Gene



Protein tissue co-expression partners for WDR62 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR62

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.

Evidence on tissue expression from TISSUES for WDR62 Gene

  • Muscle(4.3)
  • Nervous system(2.3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR62 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with WDR62: view

Orthologs for WDR62 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR62 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia WDR62 30 31
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia WDR62 30 31
  • 85.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia WDR62 30 31
  • 84.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Wdr62 30
  • 82.4 (n)
Mouse
(Mus musculus)
Mammalia Wdr62 30 17 31
  • 82.32 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia WDR62 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia WDR62 31
  • 61 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WDR62 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia wdr62 30
  • 51.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii wdr62 30
  • 55.16 (n)
WDR62 31
  • 38 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG7337 31
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea H24G06.1 31
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for WDR62 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for WDR62: view image

Paralogs for WDR62 Gene

(3) SIMAP similar genes for WDR62 Gene using alignment to 2 proteins:

  • WDR62_HUMAN
  • H7C3R4_HUMAN

Pseudogenes.org Pseudogenes for WDR62 Gene

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

Variants for WDR62 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR62 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
667587 Benign: not provided 36,066,971(+) G/A INTRON_VARIANT
667588 Benign: not provided 36,091,766(+) C/G INTRON_VARIANT
668295 Likely Benign: not provided 36,083,053(+) C/T INTRON_VARIANT
668982 Likely Benign: not provided 36,066,717(+) T/C INTRON_VARIANT
668983 Likely Benign: not provided 36,083,547(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for WDR62 Gene

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)

Additional Variant Information for WDR62 Gene

Human Gene Mutation Database (HGMD)
WDR62
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR62

SNP Genotyping and Copy Number Assay Products

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

Disorders for WDR62 Gene

MalaCards: The human disease database

(32) MalaCards diseases for WDR62 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, 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.
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 (Clinical genetics 2011) 2 3 4
  2. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. (PMID: 20729831) Bilgüvar K … Günel M (Nature 2010) 2 3 4
  3. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. (PMID: 20890278) Yu TW … Walsh CA (Nature genetics 2010) 2 3 4
  4. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. (PMID: 28089251) Macia MS … Benmerah A (American journal of human genetics 2017) 3 4
  5. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A … Reiter JF (eLife 2015) 3 4

Products for WDR62 Gene

Sources for WDR62 Gene