Aliases for WDR62 Gene
Aliases for WDR62 Gene
External Ids for WDR62 Gene
- HGNC: 24502
- Entrez Gene: 284403
- Ensembl: ENSG00000075702
- OMIM: 613583
- UniProtKB: O43379
Previous HGNC Symbols for WDR62 Gene
- C19orf14
- MCPH2
Previous GeneCards Identifiers for WDR62 Gene
- GC19P041240
- GC19P036545
- GC19P033051
Summaries 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 Second-Degree Atrioventricular Block. 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).
Additional gene information for WDR62 Gene
- Monarch Initiative
- Search for WDR62 at DataMed
- Search for WDR62 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR62 Gene
Genomics for WDR62 Gene
GeneHancer (GH) Regulatory Elements for WDR62 Gene
Regulatory Element Products
Genomic Locations for WDR62 Gene
- chr19:36,054,881-36,105,111
- (GRCh38/hg38)
- Size:
- 50,231 bases
- Orientation:
- Plus strand
- chr19:36,545,783-36,596,012
- (GRCh37/hg19)
Genomic View for WDR62 Gene
- Cytogenetic band:
-
- 19q13.12 by Ensembl
- 19q13.12 by Entrez Gene
- 19q13.12 by HGNC


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
- 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=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for WDR62 Gene
Selected DME Specific Peptides for WDR62 Gene
- O43379:
-
- QCLVKSP
- LPPSPLE
Post-translational modifications for WDR62 Gene
Other Protein References for WDR62 Gene
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Assay Products
Domains & Families for WDR62 Gene
Gene Families for WDR62 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for WDR62 Gene
Suggested Antigen Peptide Sequences for WDR62 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IBA | -- |
GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for WDR62 Gene
- MGI mutant phenotypes for WDR62:
- inferred from 2 alleles
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miRNA for WDR62 Gene
- miRTarBase miRNAs that target WDR62
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No data available for Phenotypes From GWAS Catalog , 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}.
- Cytosol (4)
- Microtubule organizing center (3)
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 |
Pathways & Interactions for WDR62 Gene
Interacting Proteins 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 |
No data available for Pathways by source and SIGNOR curated interactions for WDR62 Gene
Transcripts for WDR62 Gene
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
-
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-
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for WDR62
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | ^ |
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SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - |
ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 |
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SP1: | - | ||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
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SP4: | |||||||||||||||||||||||||||
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SP7: | |||||||||||||||||||||||||||
SP8: |
Expression for WDR62 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Gonad
- Primordial Germ Cells Allantois
- Neural Tube (Nervous System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for WDR62 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WDR62 Gene
NURSA nuclear receptor signaling pathways regulating expression of WDR62 Gene:
WDR62SOURCE GeneReport for Unigene cluster for WDR62 Gene:
Hs.116244mRNA Expression by UniProt/SwissProt for WDR62 Gene:
O43379-WDR62_HUMANEvidence 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
- ectoderm
- mesoderm
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- chin
- cranial nerve
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- skull
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
- kidney
- pelvis
- ureter
- 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
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
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Orthologs for WDR62 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | WDR62 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | WDR62 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | WDR62 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Wdr62 33 |
|
||
mouse (Mus musculus) |
Mammalia | Wdr62 33 16 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | WDR62 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | WDR62 34 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | WDR62 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | wdr62 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | wdr62 33 |
|
||
WDR62 34 |
|
OneToOne | |||
fruit fly (Drosophila melanogaster) |
Insecta | CG7337 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | H24G06.1 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for WDR62 Gene
(3) SIMAP similar genes for WDR62 Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for WDR62 Gene
Variants for WDR62 Gene
SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1008328 | benign, not specified, Primary Microcephaly 2 With or Without Cortical Malformations, Primary autosomal recessive microcephaly 2 | 36,104,534(+) | A/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs1054040 | uncertain-significance, Primary autosomal recessive microcephaly 2 | 36,103,401(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
rs111294536 | likely-benign, uncertain-significance, not specified, Primary Microcephaly 2 With or Without Cortical Malformations | 36,103,640(+) | C/A/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs112789274 | uncertain-significance, Primary Microcephaly 2 With or Without Cortical Malformations | 36,084,753(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
rs11538454 | benign, likely-benign, not specified, Primary Microcephaly 2 With or Without Cortical Malformations, Primary autosomal recessive microcephaly 2 | 36,058,788(+) | C/A/G/T | coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant |
Additional Variant Information for WDR62 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR62 Gene
Disorders for WDR62 Gene

(9) MalaCards diseases for WDR62 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
|
|
second-degree atrioventricular block |
|
|
microcephaly |
|
|
pachygyria |
|
|
schizencephaly |
|
|
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.
Additional Disease Information for WDR62
No data available for Genatlas for WDR62 Gene
Publications for WDR62 Gene
- 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 58
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. (PMID: 20729831) Bilgüvar K … Günel M (Nature 2010) 2 3 4 58
- 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 58
- 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 58
- Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. (PMID: 26297806) Kodani A … Reiter JF (eLife 2015) 3 4 58
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- Overview of 80 available WDR62 gene related products
- orf clones - Search results for 80 available WDR62 gene related products
- Overview of 80 available WDR62 gene related products
- genomics-online: gRNA clones - Search results for 80 available WDR62 gene related products
- Overview of 80 available WDR62 gene related products
- genomics-online: primer clones - Search results for 80 available WDR62 gene related products
- Overview of 80 available WDR62 gene related products
- genomics-online: shRNA clones - Search results for 80 available WDR62 gene related products
- Overview of 80 available WDR62 gene related products
Sources for WDR62 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew