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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SASH3
SAM and SH3 domain containing 3
Chromosome X Β· Xq26.1
NCBI Gene: 54440Ensembl: ENSG00000122122.10HGNC: HGNC:15975UniProt: O75995
13PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of immunoglobulin productionpositive regulation of adaptive immune responsepositive regulation of B cell proliferationregulation of intracellular signal transductionimmunodeficiency 102X-Linked Combined Immunodeficiency DiseasesImmunodeficiencycancer
✦AI Summary

SASH3 (SAM and SH3 domain containing 3) is an X-linked adaptor protein that plays a critical role in lymphocyte signaling and immune system function 1. The protein functions as a signaling scaffold in T-cell receptor (TCR) signaling cascades, essential for proper T-cell proliferation, survival, and cell cycle progression 1. SASH3 contains sterile alpha motif (SAM) and Src homology-3 (SH3) domains that facilitate the organization of signaling complexes in lymphocytes 12. Mechanistically, SASH3 deficiency leads to impaired thymocyte survival, decreased T-cell proliferation, increased T-cell apoptosis, and defective cell cycle progression in response to mitogens 1. Disease relevance is significant, as deleterious SASH3 variants cause X-linked combined immunodeficiency with immune dysregulation, characterized by recurrent infections, autoimmune cytopenias, and Evans syndrome 13. Patients exhibit CD4+ T-cell lymphopenia, neutropenia, and B-cell/NK-cell deficiencies 1. Clinical significance includes the recent identification of SASH3 deficiency as a novel inborn error of immunity, with lentivirus-mediated gene therapy showing promise for correcting protein expression and cellular function in deficient cells 14.

Sources cited
1
SASH3 is an X-linked adaptor protein essential for T-cell signaling, proliferation, and survival
PMID: 33876203
2
SASH3 variants cause X-linked combined immunodeficiency with immune dysregulation
PMID: 33876203
3
SASH3 contains SAM and SH3 domains and functions as a signaling scaffold protein
PMID: 33710696
4
SASH3 deficiency can cause Evans syndrome with autoimmune cytopenias
PMID: 37646304
5
SASH3 deficiency is a newly identified inborn error of immunity with impaired TCR signaling
PMID: 35080321
Disease Associationsβ“˜21
immunodeficiency 102Open Targets
0.70Strong
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.38Weak
ImmunodeficiencyOpen Targets
0.12Weak
cancerOpen Targets
0.08Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
autoimmune diseaseOpen Targets
0.06Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.06Suggestive
activated PI3K-delta syndromeOpen Targets
0.06Suggestive
gamma chain deficiencyOpen Targets
0.05Suggestive
ICF syndromeOpen Targets
0.05Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.05Suggestive
Severe combined immunodeficiency due to adenosine deaminase deficiencyOpen Targets
0.05Suggestive
hyper-IgE recurrent infection syndrome 5, autosomal recessiveOpen Targets
0.05Suggestive
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiencyOpen Targets
0.05Suggestive
common variable immunodeficiencyOpen Targets
0.05Suggestive
immunodeficiency 105Open Targets
0.05Suggestive
immunodeficiency 18Open Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
Immunodeficiency 102UniProt
Pathogenic Variants4
NM_018990.4(SASH3):c.505C>T (p.Gln169Ter)Likely pathogenic
Immunodeficiency 102
β˜…β˜†β˜†β˜†2024β†’ Residue 169
NM_018990.4(SASH3):c.733C>T (p.Arg245Ter)Pathogenic
Immunodeficiency 102
β˜…β˜†β˜†β˜†2023β†’ Residue 245
NM_018990.4(SASH3):c.1039C>T (p.Arg347Cys)Pathogenic
Immunodeficiency 102
β˜†β˜†β˜†β˜†2022β†’ Residue 347
NM_018990.4(SASH3):c.862C>T (p.Arg288Ter)Pathogenic
Immunodeficiency 102
β˜†β˜†β˜†β˜†2022β†’ Residue 288
View on ClinVar β†—
Related Genes
CD53Protein interaction72%LAPTM5Protein interaction72%ARHGAP30Protein interaction71%RASAL3Protein interaction60%TNFRSF4Shared pathway25%SAMD5Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
32%
Liver
5%
Heart
3%
Brain
3%
Ovary
2%
Gene Interaction Network
Click a node to explore
SASH3CD53LAPTM5ARHGAP30RASAL3TNFRSF4SAMD5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75995
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.50Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.27 [0.15–0.50]
RankingsWhere SASH3 stands among ~20K protein-coding genes
  • #16,289of 20,598
    Most Researched13
  • #3,876of 5,498
    Most Pathogenic Variants4
  • #3,054of 17,882
    Most Constrained (LOEUF)0.50 Β· top quartile
Genes detectedSASH3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
PMID: 35753512
J Allergy Clin Immunol Β· 2022
1.00
2
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
PMID: 33876203
Blood Β· 2021
0.90
3
Integrated analysis of single-cell RNA-seq and bulk RNA-seq unravels the heterogeneity of cancer-associated fibroblasts in TNBC.
PMID: 37963845
Aging (Albany NY) Β· 2023
0.80
4
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
PMID: 37646304
Br J Haematol Β· 2023
0.70
5
The emerging and diverse roles of the SLy/SASH1-protein family in health and disease-Overview of three multifunctional proteins.
PMID: 33710696
FASEB J Β· 2021
0.60