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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.
SH3PXD2B
SH3 and PX domains 2B
Chromosome 5 Β· 5q35.1
NCBI Gene: 285590Ensembl: ENSG00000174705.13HGNC: HGNC:29242UniProt: A1X283
74PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein localization to membranesuperoxide metabolic processheart developmenteye developmentFrank-Ter Haar syndromeDermato-cardio-skeletal syndrome, Borrone typeAbnormality of the skeletal systemandrogenetic alopecia
✦AI Summary

SH3PXD2B is an adapter protein that organizes invadopodia and podosome formation through its SH3 and PX domains. It functions as a scaffold that coordinates NADPH oxidase (NOX1/NOX3)-dependent reactive oxygen species (ROS) generation and localizes matrix metalloproteinases and phosphoinositide signaling to sites of extracellular matrix degradation 1. SH3PXD2B plays a crucial role in adipogenesis; knockdown studies demonstrate that SH3PXD2B is essential for proper adipocyte lipidation and differentiation, with loss-of-function reducing expression of key adipogenic regulators including DGAT2, LPL, ADIPOQ, PPARG, and SREBF1 2. Disease relevance is substantial. SH3PXD2B mutations cause Frank-Ter Haar syndrome, an autosomal-recessive disorder featuring skeletal abnormalities, cardiac defects, and ocular pathology 3, and contribute to a broader spectrum of collagen remodeling disorders alongside MMP14 and MMP2 mutations 1. Beyond rare genetic disease, SH3PXD2B is upregulated in multiple cancers. Elevated expression in hepatocellular carcinoma correlates with poor prognosis, advanced TNM stage, and enhanced invasion through invadopodia formation 4. Similarly, high SH3PXD2B expression in gastric cancer associates with poor prognosis and promotes cell proliferation and migration through immunosuppressive cell recruitment 5. SH3PXD2B has been identified in a novel fusion oncogene (SH3PXD2B::FER) in plexiform myofibroblastic tumor 6, suggesting broader oncogenic potential.

Sources cited
1
SH3PXD2B coordinates collagen remodeling through cooperation with MMP14 and MMP2; mutations cause Frank-Ter Haar syndrome with skeletal, cardiac, and ocular abnormalities
PMID: 31218820
2
SH3PXD2B knockdown significantly decreases adipocyte lipidation and alters expression of adipogenesis regulators DGAT2, LPL, ADIPOQ, PPARG, and SREBF1
PMID: 38991381
3
SH3PXD2B mutations on chromosome 5q35.1 cause Frank-Ter Haar syndrome; two novel compound heterozygous mutations identified
PMID: 28694206
4
SH3PXD2B is upregulated in hepatocellular carcinoma and its expression correlates with poor overall and recurrence-free survival; silencing inhibits invadopodia formation and invasion
PMID: 33906640
5
SH3PXD2B promotes gastric cancer progression through regulatory networks with FBN1 and ADAM15; high expression associates with poor prognosis and immune infiltration changes
PMID: 37211344
6
Novel SH3PXD2B::FER fusion gene identified in plexiform myofibroblastic tumor; FER kinase domain may enhance EGFR signaling
PMID: 39660974
Disease Associationsβ“˜21
Frank-Ter Haar syndromeOpen Targets
0.79Strong
Dermato-cardio-skeletal syndrome, Borrone typeOpen Targets
0.77Strong
Abnormality of the skeletal systemOpen Targets
0.45Moderate
androgenetic alopeciaOpen Targets
0.39Weak
genetic disorderOpen Targets
0.34Weak
HypocalcemiaOpen Targets
0.33Weak
response to xenobiotic stimulusOpen Targets
0.33Weak
poisoningOpen Targets
0.33Weak
skin diseaseOpen Targets
0.31Weak
jaw diseaseOpen Targets
0.28Weak
prostate carcinomaOpen Targets
0.25Weak
alcohol drinkingOpen Targets
0.25Weak
cataractOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.23Weak
infectious arthritisOpen Targets
0.18Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
colon carcinomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
Frank-Ter Haar syndromeUniProt
Pathogenic Variants17
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)Likely pathogenic
Frank-Ter Haar syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 43
NM_001017995.3(SH3PXD2B):c.2128C>T (p.Gln710Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 710
NM_001017995.3(SH3PXD2B):c.785+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001017995.3(SH3PXD2B):c.157-1G>ALikely pathogenic
Frank-Ter Haar syndrome
β˜…β˜†β˜†β˜†2025
NM_001017995.3(SH3PXD2B):c.310-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001017995.3(SH3PXD2B):c.668-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001017995.3(SH3PXD2B):c.591_592dup (p.Gln198fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 198
NM_001017995.3(SH3PXD2B):c.330del (p.Tyr111fs)Pathogenic
not provided|SH3PXD2B-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 111
NM_001017995.3(SH3PXD2B):c.567G>A (p.Trp189Ter)Likely pathogenic
Frank-Ter Haar syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 189
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs)Pathogenic
Frank-Ter Haar syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 324
NM_001017995.3(SH3PXD2B):c.846del (p.Leu283fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 283
NM_001017995.3(SH3PXD2B):c.396dup (p.Lys133fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 133
NM_001017995.3(SH3PXD2B):c.250C>T (p.Arg84Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 84
NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592delPathogenic
Frank-Ter Haar syndrome
β˜†β˜†β˜†β˜†2014
NM_001017995.3(SH3PXD2B):c.401+1G>APathogenic
Frank-Ter Haar syndrome
β˜†β˜†β˜†β˜†2014
NM_001017995.3(SH3PXD2B):c.76-2A>CPathogenic
Frank-Ter Haar syndrome
β˜†β˜†β˜†β˜†2010
NM_001017995.3(SH3PXD2B):c.147dup (p.Asp50Ter)Pathogenic
Frank-Ter Haar syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 50
View on ClinVar β†—
Related Genes
ADAM15Protein interaction89%MMP14Protein interaction86%CTTNProtein interaction79%HCLS1Protein interaction79%WASProtein interaction79%NOX1Protein interaction75%
Tissue Expression6 tissues
Ovary
100%
Lung
78%
Brain
41%
Heart
24%
Liver
11%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SH3PXD2BADAM15MMP14CTTNHCLS1WASNOX1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A1X283
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.50 [0.39–0.66]
RankingsWhere SH3PXD2B stands among ~20K protein-coding genes
  • #6,429of 20,598
    Most Researched74
  • #2,344of 5,498
    Most Pathogenic Variants17
  • #4,774of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedSH3PXD2B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol Β· 2024
1.00
2
Comprehensive bioinformatics and experimental analysis of SH3PXD2B reveals its carcinogenic effect in gastric carcinoma.
PMID: 37211344
Life Sci Β· 2023
0.90
3
Single nucleus RNA-sequencing integrated into risk variant colocalization discovers 17 cell-type-specific abdominal obesity genes for metabolic dysfunction-associated steatotic liver disease.
PMID: 38991381
EBioMedicine Β· 2024
0.80
4
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.
PMID: 28694206
Gene Β· 2017
0.70
5
Prognostic value of SH3PXD2B (Tks4) in human hepatocellular carcinoma: a combined multi-omics and experimental study.
PMID: 33906640
BMC Med Genomics Β· 2021
0.60