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WDR62 Gene(Protein Coding)

WD Repeat Domain 62

GCID:
GC19P036054
GIFtS:
52
Genes Participants
UDN Logo

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
  • WD Repeat-Containing Protein 62 3
  • Truncated WDR62 3
  • EC 2.7.11.1 61
  • EC 2.7.7.38 61
  • 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 MAPKBP1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR62 Gene

Genomics for WDR62 Gene

Products:

  1. Regulatory Element

Regulatory Elements for WDR62 Gene

Enhancers for WDR62 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G036113 1.2 ENCODE 34.1 +60.4 60404 3.1 MLX CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF416 ZNF548 ZNF263 TMEM147-AS1 ZNF850 ZNF567 ZNF345 ZNF529 ZNF568 ZNF420 ZNF461 KMT2B RBM42
GH19G036052 1.2 ENCODE 32.5 -0.1 -77 3.9 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC MEF2D ZFP82 ZNF345 ZNF461 ZNF529 ZNF567 ZNF568 ZNF420 ZNF790-AS1 RBM42 LINC01534
GH19G036058 0.9 ENCODE 33.2 +4.6 4611 2.4 ATF1 ARID4B DMAP1 ZNF2 ZNF121 SP5 NFYC REST MIER2 KAT8 ZNF567 ZNF345 WDR62 TMEM147-AS1 ZNF790 ZNF829 HAUS5 ZNF529-AS1 ZNF568 ZNF420
GH19G036130 1.4 Ensembl ENCODE dbSUPER 21.1 +77.3 77331 3.0 NFIB YBX1 ZNF48 ZEB1 RARA GTF3C2 FOS RCOR1 EGR2 SMARCC1 KMT2B WDR62 ZNF345 TMEM147-AS1 LOC101927572 COX7A1 ZNF850 RBM42 HAUS5 SDHAF1
GH19G036035 0.9 ENCODE 32.1 -19.1 -19148 0.2 HDAC1 HDGF PKNOX1 ARNT ZBTB40 TCF12 GATA2 EGR1 ETV6 BCLAF1 WDR62 CLIP3 PIR59294
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WDR62 on UCSC Golden Path with GeneCards custom track

Promoters for WDR62 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109107 -381 2201 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC MEF2D

Transcription factor binding sites by QIAGEN in the WDR62 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for WDR62 Gene

Proteins for WDR62 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for WDR62 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for WDR62 Gene

O43379:
  • QCLVKSP
  • LPPSPLE

Post-translational modifications for WDR62 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WDR62 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for WDR62 Gene

Gene Families for WDR62 Gene

HGNC:

Protein Domains for WDR62 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WDR62 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for WDR62 Gene

Function for WDR62 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 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 Model Products

CRISPR Products

Inhibitory RNA Products

No data available for 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
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 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,IEA 20729831
GO:0005682 U5 snRNP IBA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 26297806
genes like me logo Genes that share ontologies with WDR62: view

Pathways & Interactions for WDR62 Gene

SuperPathways for WDR62 Gene

PathCards logo More details on SuperPathways for WDR62
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:0008380 RNA splicing IBA --
GO:0021987 cerebral cortex development IMP 20729831
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for WDR62 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for WDR62 Gene

(12) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(102) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for WDR62 Gene

WD repeat domain 62:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for WDR62 Gene
mRNA expression by BioGPS for WDR62 GenemRNA expression by GTEx 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, MaxQB, and MOPED for WDR62 Gene



Protein tissue co-expression partners for WDR62 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WDR62 Gene:

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(4.1)
  • Nervous system(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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
 Mammalia WDR62 34 35
  • 99.45 (n)
dog
(Canis familiaris)
 Mammalia WDR62 34 35
  • 85.58 (n)
cow
(Bos Taurus)
 Mammalia WDR62 34 35
  • 84.86 (n)
rat
(Rattus norvegicus)
 Mammalia Wdr62 34
  • 82.4 (n)
mouse
(Mus musculus)
 Mammalia Wdr62 34 16 35
  • 82.32 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia WDR62 35
  • 67 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia WDR62 35
  • 61 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia WDR62 35
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia wdr62 34
  • 51.58 (n)
zebrafish
(Danio rerio)
 Actinopterygii wdr62 34
  • 55.16 (n)
WDR62 35
  • 38 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG7337 35
  • 17 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea H24G06.1 35
  • 13 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 41 (a)
 OneToMany
Species where no ortholog for WDR62 was found in the sources mined by GeneCards:
  • 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
rs147875659 other, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] 36,084,678(+) TGGAC(A/G)AGCTG nc-transcript-variant, reference, missense
rs267607176 Pathogenic, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] 36,067,415(+) GTTCT(C/G)GTTCT nc-transcript-variant, reference, missense
rs387907082 Pathogenic, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] 36,081,512(+) CATTC(A/G)CTTCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs387907083 Pathogenic, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] 36,083,222(+) CAGGC(A/G)ACCGA intron-variant, nc-transcript-variant, reference, missense
rs387907084 Pathogenic, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317] 36,058,795(+) AGAAG(A/G)TGCTT nc-transcript-variant, 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

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

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

Disorders for WDR62 Gene

MalaCards: The human disease database

(12) 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 64
  2. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. (PMID: 20729831) Bilguvar K. … Gunel M. (Nature 2010) 2 3 4 64
  3. 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 64
  4. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A. … Reiter J.F. (Elife 2015) 3 4 64
  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 64

Products for WDR62 Gene

Sources for WDR62 Gene

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