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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SH2D1B
SH2 domain containing 1B
Chromosome 1 · 1q23.3
NCBI Gene: 117157Ensembl: ENSG00000198574.7HGNC: HGNC:30416UniProt: O14796
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingleukocyte activation involved in immune responsepositive regulation of natural killer cell mediated immunitypositive regulation of innate immune responsemyopathyChronic mucocutaneous candidosisneoplasmWiskott-Aldrich syndrome
✦AI Summary

SH2D1B encodes EAT-2, a cytoplasmic adapter protein that regulates signaling through SLAM family receptors, particularly in natural killer (NK) cells. The protein plays a crucial role in NK cell-mediated cytotoxicity by controlling signal transduction through CD244/2B4 and SLAMF7 receptors, affecting downstream signaling pathways including PLCG1 and ERK activation 12. SH2D1B expression is critical for maintaining NK cell function, as transcriptional suppression by ZNF683 leads to NK cell exhaustion and impaired cytotoxic activity in multiple myeloma 1. In type 1 diabetes, SH2D1B-high NK cells activate the IFNγ/JAK1/STAT/CD38 pathway, potentially producing adenosine to limit autoimmunity 3. The gene shows clinical significance across multiple diseases: high SLAMF7/SH2D1B co-expression correlates with better survival in neuroblastoma patients 4, while altered methylation patterns affect autoimmune thyroiditis development 5. SH2D1B also serves as a biomarker for various conditions including colorectal cancer screening 6, Vogt-Koyanagi-Harada disease 7, and birdshot chorioretinopathy, where CD8bright CD244bright NK cells expressing SH2D1B rapidly decline upon clinical remission 2.

Sources cited
1
SH2D1B encodes EAT-2 adapter protein and ZNF683 suppression leads to NK cell exhaustion in multiple myeloma
PMID: 36245253
2
SH2D1B signaling through CD244 receptor and association with CD8bright CD244bright NK cells in birdshot chorioretinopathy
PMID: 39085199
3
SH2D1B-high NK cells activate IFNγ/JAK1/STAT/CD38 pathway in type 1 diabetes
PMID: 41764744
4
High SLAMF7/SH2D1B co-expression associated with better neuroblastoma patient survival
PMID: 35525858
5
SH2D1B methylation patterns in autoimmune thyroiditis
PMID: 39401997
6
SH2D1B as biomarker for colorectal cancer screening
PMID: 41373777
7
SH2D1B identified as immune hub gene in Vogt-Koyanagi-Harada disease
PMID: 35958546
Disease Associationsⓘ20
myopathyOpen Targets
0.32Weak
Chronic mucocutaneous candidosisOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
Wiskott-Aldrich syndromeOpen Targets
0.05Suggestive
hyper-IgM syndrome type 3Open Targets
0.04Suggestive
rheumatoid arthritisOpen Targets
0.03Suggestive
Duane retraction syndromeOpen Targets
0.02Suggestive
Ewing sarcomaOpen Targets
0.02Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.02Suggestive
allergic rhinitisOpen Targets
0.02Suggestive
chronic lymphocytic leukemiaOpen Targets
0.02Suggestive
Miyoshi myopathyOpen Targets
0.02Suggestive
tropical spastic paraparesisOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Vogt-Koyanagi-Harada diseaseOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
cytomegalovirus infectionOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD244Protein interaction99%CD84Protein interaction98%LY9Protein interaction94%SLAMF1Protein interaction94%SLAMF6Protein interaction94%SLAMF7Protein interaction88%
Tissue Expression6 tissues
Lung
100%
Brain
56%
Liver
33%
Bone Marrow
17%
Heart
3%
Ovary
1%
Gene Interaction Network
Click a node to explore
SH2D1BCD244CD84LY9SLAMF1SLAMF6SLAMF7
PROTEIN STRUCTURE
Preparing viewer…
PDB5KAZ · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.47–1.18]
RankingsWhere SH2D1B stands among ~20K protein-coding genes
  • #11,798of 20,598
    Most Researched31
  • #12,401of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedSH2D1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Macrophage-mediated anti-tumor immunity against high-risk neuroblastoma.
PMID: 35525858
Genes Immun · 2022
1.00
2
IFNγ/JAK/STAT1/CD38 pathway in SH2D1Bhigh NK cells: Implications for inflammation in type 1 diabetes.
PMID: 41764744
J Immunol · 2026
0.90
3
Single-cell transcriptome profiling reveals the key role of ZNF683 in natural killer cell exhaustion in multiple myeloma.
PMID: 36245253
Clin Transl Med · 2022
0.80
4
STAT4 and COL1A2 are potential diagnostic biomarkers and therapeutic targets for heart failure comorbided with depression.
PMID: 35367598
Brain Res Bull · 2022
0.70
5
Single-cell profiling identifies a CD8
PMID: 39085199
Nat Commun · 2024
0.60