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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SH3D21
SH3 domain containing 21
Chromosome 1 · 1p34.3
NCBI Gene: 79729Ensembl: ENSG00000214193.12HGNC: HGNC:26236UniProt: A4FU49
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein-macromolecule adaptor activityactin filament organizationcell migrationneurodegenerative diseaseAbnormality of the skeletal systemtype 2 diabetes mellitusjoint disease
✦AI Summary

SH3D21 (SH3 domain containing 21) is a protein adapter involved in actin cytoskeleton organization and cell migration. Structurally, it contains an SH3 domain that mediates protein-macromolecule interactions 1. In hepatocellular carcinoma, SH3D21 expression is upregulated and promotes cancer progression by activating the PI3K/AKT/mTOR signaling pathway, enhancing cell proliferation, invasion, and migration while facilitating an immunosuppressive tumor microenvironment 2. SH3D21 also functions as a sensitizer for gemcitabine therapy in pancreatic cancer, suggesting its involvement in drug efficacy pathways 3. In oral cancer and potentially malignant disorders, SH3D21 is among key genes implicated in actin cytoskeleton reorganization associated with increased invasiveness, with ROC curve analysis demonstrating its potential as an early biomarker 1. Differential methylation of SH3D21 genomic regions correlates with outpatient surgeries in carriers of Val122Ile TTR mutation 4. Notably, SH3D21 knockout mice exhibit normal male fertility, indicating the gene is dispensable for reproductive function 5. These findings identify SH3D21 as a cancer-associated adapter protein with potential clinical significance as a diagnostic biomarker and therapeutic target in solid tumors, though its precise mechanistic role in normal physiology remains incompletely characterized.

Sources cited
1
SH3D21 is implicated in actin cytoskeleton organization in oral cancer and potentially malignant disorders; identified as potential early biomarker
PMID: 40818124
2
SH3D21 is upregulated in hepatocellular carcinoma and promotes progression by activating PI3K/AKT/mTOR pathway; serves as prognostic biomarker
PMID: 40179068
3
SH3D21 acts as a gemcitabine sensitizer in pancreatic cancer cells identified through CRISPR/Cas9 screening
PMID: 31844142
4
Differential methylation in SH3D21 region associates with outpatient surgeries in Val122Ile TTR mutation carriers
PMID: 33428857
5
SH3D21 knockout mice exhibit normal male fertility, indicating gene is dispensable for reproductive function
PMID: 38835510
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.16Weak
joint diseaseOpen Targets
0.14Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.05Suggestive
facial painOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.04Suggestive
anorexia nervosaOpen Targets
0.03Suggestive
bipolar disorderOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
obsessive-compulsive disorderOpen Targets
0.03Suggestive
schizophreniaOpen Targets
0.03Suggestive
neurotic disorderOpen Targets
0.03Suggestive
HypervolemiaOpen Targets
0.02Suggestive
bone fractureOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
autism spectrum disorderOpen Targets
0.02Suggestive
major depressive episodeOpen Targets
0.02Suggestive
Tourette syndromeOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AVL9Shared pathway50%FSCN3Shared pathway50%SH3KBP1Shared pathway50%CD248Shared pathway50%SCYL3Shared pathway50%TMSB15CShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
65%
Bone Marrow
51%
Heart
30%
Liver
15%
Brain
8%
Gene Interaction Network
Click a node to explore
SH3D21AVL9FSCN3SH3KBP1CD248SCYL3TMSB15C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A4FU49
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.85–1.22]
RankingsWhere SH3D21 stands among ~20K protein-coding genes
  • #15,989of 20,598
    Most Researched14
  • #12,857of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedSH3D21
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
PMID: 35094659
Adipocyte · 2022
1.00
2
Epigenomic Profiles of African-American
PMID: 33428857
Circ Genom Precis Med · 2021
0.83
3
Identification of actin cytoskeleton organization genes in oral cancer and oral potentially malignant disorders using oral tissue RNA-seq database.
PMID: 40818124
Med Oral Patol Oral Cir Bucal · 2025
0.67
4
Integrating bulk and single-cell RNA sequencing reveals SH3D21 promotes hepatocellular carcinoma progression by activating the PI3K/AKT/mTOR pathway.
PMID: 40179068
PLoS One · 2025
0.50
5
Gene-deficient mouse model established by CRISPR/Cas9 system reveals 15 reproductive organ-enriched genes dispensable for male fertility.
PMID: 38835510
Front Cell Dev Biol · 2024
0.33