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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SHROOM1
shroom family member 1
Chromosome 5 · 5q31.1
NCBI Gene: 134549Ensembl: ENSG00000164403.15HGNC: HGNC:24084UniProt: A6NN40
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
myosin II bindingactin filament bindingcell morphogenesisactin filament bundle assemblyAlzheimer diseaseParkinson diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

SHROOM1 is a member of the Apx/Shroom protein family that functions as a regulator of actin cytoskeleton organization and cell morphogenesis. At the molecular level, SHROOM1 contains the characteristic ASD2 domain and links membrane-bound proteins, such as melanoma cell adhesion molecule (MCAM), to the actin cytoskeleton 1. The protein is involved in myofibrillogenesis and sarcomere formation during muscle development, with expression regulated by calcium signaling and epigenetic mechanisms 2. Clinically, SHROOM1 variants have relevance to neural tube defects (NTDs), as the broader SHROOM gene family contributes to neural tube closure morphogenesis 3. Additionally, SHROOM1 hypermethylation has been identified in osteoarthritic cartilage, suggesting epigenetic dysregulation may link this gene to osteoarthritis pathology 4. Notably, SHROOM1 suppression enhances homology-directed DNA repair (HDR) efficiency in human and mouse cells and embryos 5, making SHROOM1 knockdown a potentially useful strategy for improving CRISPR/Cas9-mediated gene editing applications in generating animal models and cell lines for disease research.

Sources cited
1
hShroom1 interacts with MCAM and links membrane proteins to the actin cytoskeleton through the characteristic ASD2 domain
PMID: 19137261
2
SHROOM1 expression is regulated by calcium signaling and DNA methylation; involved in myofibrillogenesis and sarcomere formation
PMID: 29729476
3
SHROOM gene family members contribute to neural tube closure and neural tube defect etiology
PMID: 29423651
4
SHROOM1 is hypermethylated in osteoarthritic cartilage and linked to OA pathology
PMID: 26484395
5
SHROOM1 knockdown suppresses HDR and increases gene integration efficiency in human/mouse cells and embryos via CRISPR/Cas9
PMID: 32823670
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.32Weak
lysosomal storage diseaseOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.32Weak
Parkinson diseaseOpen Targets
0.32Weak
asthmaOpen Targets
0.03Suggestive
obesityOpen Targets
0.02Suggestive
urothelial carcinomaOpen Targets
0.01Suggestive
neural tube defectOpen Targets
0.01Suggestive
chronic interstitial cystitisOpen Targets
0.01Suggestive
Graves diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Dravet syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
congenital heart diseaseOpen Targets
0.00Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
gestational diabetesOpen Targets
0.00Suggestive
Turner syndromeOpen Targets
0.00Suggestive
osteoarthritisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MCAMProtein interaction71%ESPNShared pathway50%LIMD2Shared pathway50%LRATD1Shared pathway33%FRYShared pathway33%ESPNLShared pathway33%
Tissue Expression6 tissues
Liver
100%
Lung
8%
Ovary
5%
Brain
4%
Heart
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SHROOM1MCAMESPNLIMD2LRATD1FRYESPNL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2M3G4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.80–1.25]
RankingsWhere SHROOM1 stands among ~20K protein-coding genes
  • #14,259of 20,598
    Most Researched20
  • #13,239of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedSHROOM1
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Suppression of
PMID: 32823670
Int J Mol Sci · 2020
1.00
2
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.
PMID: 29423651
Hum Genet · 2018
0.89
3
Silver nanoparticles impair zebrafish skeletal and cardiac myofibrillogenesis and sarcomere formation.
PMID: 29729476
Aquat Toxicol · 2018
0.78
4
Identification of differentially methylated regions in new genes associated with knee osteoarthritis.
PMID: 26484395
Gene · 2016
0.67
5
A new standard nomenclature for proteins related to Apx and Shroom.
PMID: 16615870
BMC Cell Biol · 2006
0.56