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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WDR62
WD repeat domain 62
Chromosome 19 Β· 19q13.12
NCBI Gene: 284403Ensembl: ENSG00000075702.19HGNC: HGNC:24502UniProt: A0A7P0T9D9
110PubMed Papers
21Diseases
0Drugs
116Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
spindle poleprotein bindingcentrosomecentriole replicationautosomal recessive primary microcephalygenetic disorderIntellectual disabilitySkraban-Deardorff syndrome
✦AI Summary

WDR62 is a WD40-repeat scaffold protein essential for cerebral cortical development, functioning primarily in neural progenitor cell mitosis and centriole biogenesis. The protein localizes to spindle poles and centrosomes, where it regulates mitotic progression through interactions with Aurora A and components of the centriole duplication machinery 1. WDR62 controls neural stem cell mitosis and intermediate neural/glial progenitor specification, with its function intimately linked to c-Jun N-terminal kinase (JNK) signaling 23. Mechanistically, WDR62 maintains spindle stability and checkpoint control; its depletion causes spindle instability, mitotic arrest, and neural progenitor cell death, directly impairing brain size 1. The protein recruits JNK pathway components to regulate both neurogenesis and germ cell meiosis 3. Biallelic WDR62 mutations cause autosomal recessive primary microcephaly type 2 (MCPH2), characterized by severe congenital microcephaly, cortical malformations, pachygyria, and developmental delay 45. Beyond neurodevelopment, WDR62 mutations associate with primary ovarian insufficiency affecting meiosis 6, and elevated WDR62 expression correlates with poor prognosis in ovarian cancer through cell cycle dysregulation via JNK/MAPK8 signaling 7. WDR62 represents a therapeutic target for microcephaly, infertility, and potentially malignant diseases.

Sources cited
1
WDR62 regulates mitotic progression and spindle stability in neural progenitors; its loss causes spindle instability, mitotic arrest, cell death, and reduced brain size through interaction with Aurora A
PMID: 24875059
2
WDR62 is a spindle pole protein mutated in autosomal recessive primary microcephaly (MCPH2); mutations prevent proper spindle pole localization
PMID: 20890279
3
WDR62 regulates neural and glial progenitor specification during human pluripotent stem cell differentiation through JNK signaling
PMID: 28690640
4
WDR62 is a scaffold protein recruiting JNK signaling components to regulate neural stem cell mitosis and germ cell meiosis in neurological disorders and infertility
PMID: 33937237
5
WDR62 mutations cause MCPH2 with severe microcephaly, cortical malformations, pachygyria, and developmental delay
PMID: 30706430
6
WDR62 mutations are associated with primary ovarian insufficiency through effects on meiosis and folliculogenesis
PMID: 34794894
7
WDR62 is highly expressed in ovarian cancer; high expression correlates with poor prognosis and promotes cancer progression through cell cycle regulation via JNK/MAPK8 signaling
PMID: 40369663
Disease Associationsβ“˜21
autosomal recessive primary microcephalyOpen Targets
0.82Strong
genetic disorderOpen Targets
0.49Moderate
Intellectual disabilityOpen Targets
0.46Moderate
Skraban-Deardorff syndromeOpen Targets
0.36Weak
Abnormality of the nervous systemOpen Targets
0.34Weak
Abnormality of neuronal migrationOpen Targets
0.33Weak
Abnormal cerebral morphologyOpen Targets
0.32Weak
membranous glomerulonephritisOpen Targets
0.22Weak
atrial fibrillationOpen Targets
0.19Weak
microcephalyOpen Targets
0.12Weak
microcephaly 1, primary, autosomal recessiveOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
congenital heart diseaseOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
Microcephaly 2, primary, autosomal recessive, with or without cortical malformationsUniProt
Pathogenic Variants116
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|Primary microcephaly type 2|not provided|Autosomal recessive primary microcephaly
β˜…β˜…β˜†β˜†2026β†’ Residue 511
NM_001083961.2(WDR62):c.1234-1G>APathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β˜…β˜…β˜†β˜†2025
NM_001083961.2(WDR62):c.177+1G>CPathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_001083961.2(WDR62):c.3514+1G>APathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β˜…β˜…β˜†β˜†2025
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser)Likely pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 862
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter)Pathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β˜…β˜…β˜†β˜†2025β†’ Residue 647
NM_001083961.2(WDR62):c.1534C>T (p.Arg512Ter)Pathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β˜…β˜…β˜†β˜†2025β†’ Residue 512
NM_001083961.2(WDR62):c.2864_2867del (p.Asp955fs)Pathogenic
not provided|WDR62-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 955
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 799
NM_001083961.2(WDR62):c.3462+1G>APathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β˜…β˜…β˜†β˜†2024
NM_001083961.2(WDR62):c.2333+2T>CLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)Pathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β˜…β˜…β˜†β˜†2024β†’ Residue 1244
NM_001083961.2(WDR62):c.3304C>T (p.Gln1102Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1102
NM_001083961.2(WDR62):c.269+1G>TLikely pathogenic
Autosomal recessive primary microcephaly|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β˜…β˜…β˜†β˜†2024
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 438
NM_001083961.2(WDR62):c.2086del (p.Ser696fs)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 696
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β˜…β˜…β˜†β˜†2023β†’ Residue 1108
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)Pathogenic
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 918
NM_001083961.2(WDR62):c.4234dup (p.Leu1412fs)Likely pathogenic
not provided|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
β˜…β˜…β˜†β˜†2021β†’ Residue 1412
NM_001083961.2(WDR62):c.2520+5G>TPathogenic
not provided|Intellectual disability
β˜…β˜…β˜†β˜†2020
View on ClinVar β†—
Related Genes
MAPK9Protein interaction100%MAP2K7Protein interaction87%CEP170Protein interaction84%MCPH1Protein interaction82%ASPMProtein interaction82%STILProtein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
89%
Brain
25%
Lung
9%
Liver
9%
Ovary
6%
Gene Interaction Network
Click a node to explore
WDR62MAPK9MAP2K7CEP170MCPH1ASPMSTIL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O43379
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.59–0.81]
RankingsWhere WDR62 stands among ~20K protein-coding genes
  • #4,340of 20,598
    Most Researched110 Β· top quartile
  • #673of 5,498
    Most Pathogenic Variants116 Β· top quartile
  • #6,734of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedWDR62
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
1.00
2
Pathophysiological Significance of WDR62 and JNK Signaling in Human Diseases.
PMID: 33937237
Front Cell Dev Biol Β· 2021
0.90
3
Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size.
PMID: 24875059
Nat Commun Β· 2014
0.80
4
WDR62 Regulates Early Neural and Glial Progenitor Specification of Human Pluripotent Stem Cells.
PMID: 28690640
Stem Cells Int Β· 2017
0.70
5
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
PMID: 20890279
Nat Genet Β· 2010
0.60