HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
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.
WDR37
WD repeat domain 37
Chromosome 10 Β· 10p15.3
NCBI Gene: 22884Ensembl: ENSG00000047056.19HGNC: HGNC:31406UniProt: Q9Y2I8
48PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleuscytoplasmlymphocyte homeostasisneurooculocardiogenitourinary syndromeIntellectual disabilitycolobomaGlobal developmental delay
✦AI Summary

WDR37 encodes a WD40 repeat-containing protein that plays essential roles in multiple cellular processes and development. The protein is required for normal ER Ca2+ handling in lymphocytes and, together with PACS1, plays an essential role in stabilizing peripheral lymphocyte populations [UniProt]. WDR37 physically interacts with PACS1 and PACS2 proteins, forming a functionally conserved axis where these proteins are mutually required for proper expression and localization 1. The WDR37-PACS1-PACS2 axis appears critical for ocular development, as coloboma is a shared feature among disorders caused by mutations in these genes 2. De novo missense variants in WDR37's N-terminal region cause neurooculocardiogenitourinary syndrome (NOCGUS), a severe multisystemic disorder characterized by ocular anomalies, dysmorphic features, neurological impairment, and variable cardiac and genitourinary defects 3. Mechanistically, these missense variants may act through a dominant-negative mechanism, as evidenced by zebrafish studies showing that heterozygous missense mutations cause poor growth and lethality, while frameshift variants allow survival 3. Additionally, WDR37 has been implicated in cancer biology, potentially functioning as an E3 ubiquitin ligase with tumor-suppressive properties in pancreatic cancer 4.

Sources cited
1
WDR37 physically interacts with PACS1 and PACS2, and these proteins are mutually required for expression and localization
PMID: 38712144
2
Coloboma is a shared feature among disorders caused by mutations in the WDR37-PACS1-PACS2 axis, suggesting involvement in ocular development
PMID: 33369122
3
De novo missense variants in WDR37's N-terminal region cause NOCGUS syndrome with severe multisystemic features, potentially through dominant-negative mechanism
PMID: 31327510
4
WDR37 may function as an E3 ubiquitin ligase with tumor-suppressive properties in pancreatic cancer
PMID: 38304253
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
neurooculocardiogenitourinary syndromeOpen Targets
0.78Strong
Intellectual disabilityOpen Targets
0.56Moderate
colobomaOpen Targets
0.47Moderate
Global developmental delayOpen Targets
0.46Moderate
SeizureOpen Targets
0.46Moderate
Abnormality of the cardiovascular systemOpen Targets
0.46Moderate
Abnormality of the eyeOpen Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.46Moderate
disease of genitourinary systemOpen Targets
0.46Moderate
Hearing abnormalityOpen Targets
0.46Moderate
syndromic intellectual disabilityOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.45Moderate
isolated cerebellar hypoplasia/agenesisOpen Targets
0.39Weak
epilepsyOpen Targets
0.38Weak
developmental disabilityOpen Targets
0.38Weak
autismOpen Targets
0.37Weak
Corneal opacityOpen Targets
0.37Weak
MicrocorneaOpen Targets
0.37Weak
Peters anomalyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.33Weak
Neurooculocardiogenitourinary syndromeUniProt
Pathogenic Variants9
NM_014023.4(WDR37):c.373A>G (p.Thr125Ala)Pathogenic
not provided|Inborn genetic diseases|Neurooculocardiogenitourinary syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 125
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)Pathogenic
6 conditions|Neurooculocardiogenitourinary syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 130
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)Pathogenic
Neurooculocardiogenitourinary syndrome|6 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_014023.4(WDR37):c.406A>T (p.Ser136Cys)Likely pathogenic
not provided|Neurooculocardiogenitourinary syndrome
β˜…β˜…β˜†β˜†2021β†’ Residue 136
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)Pathogenic
not provided|6 conditions|Cerebellar vermis hypoplasia;Ventriculomegaly|Neurooculocardiogenitourinary syndrome|Congenital cerebellar hypoplasia|WDR37-related disorder
β˜…β˜…β˜†β˜†2019β†’ Residue 125
NM_014023.4(WDR37):c.778G>A (p.Asp260Asn)Likely pathogenic
Neurooculocardiogenitourinary syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 260
NM_014023.4(WDR37):c.659A>G (p.Asp220Gly)Likely pathogenic
Neurooculocardiogenitourinary syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 220
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)Likely pathogenic
Neurooculocardiogenitourinary syndrome|6 conditions
β˜…β˜†β˜†β˜†2019β†’ Residue 129
NM_014023.4(WDR37):c.727-27_727-24delLikely pathogenic
Neurooculocardiogenitourinary syndrome
β˜…β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
PACS2Protein interaction89%PACS1Protein interaction78%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
81%
Brain
67%
Lung
61%
Ovary
53%
Liver
53%
Gene Interaction Network
Click a node to explore
WDR37PACS2PACS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y2I8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.28 [0.19–0.42]
RankingsWhere WDR37 stands among ~20K protein-coding genes
  • #9,159of 20,598
    Most Researched48
  • #2,972of 5,498
    Most Pathogenic Variants9
  • #2,249of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedWDR37
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Chemotherapy-Induced Senescence Reprogramming Promotes Nasopharyngeal Carcinoma Metastasis by circRNA-Mediated PKR Activation.
PMID: 36683218
Adv Sci (Weinh) Β· 2023
1.00
2
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
PMID: 33369122
Am J Med Genet A Β· 2021
0.90
3
PACS-1 variant protein is aberrantly localized in
PMID: 38712144
bioRxiv Β· 2024
0.80
4
PACS-1 variant protein is aberrantly localized in Caenorhabditis elegans model of PACS1/PACS2 syndromes.
PMID: 39031646
Genetics Β· 2024
0.70
5
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in
PMID: 40869285
Int J Mol Sci Β· 2025
0.60