HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HSH2D
hematopoietic SH2 domain containing
Chromosome 19 · 19p13.11
NCBI Gene: 84941Ensembl: ENSG00000196684.13HGNC: HGNC:24920UniProt: Q96JZ2
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein-macromolecule adaptor activityT cell activationcytoplasmpathological myopiageneralized anxiety disorderacute lymphoblastic leukemiacystic fibrosis
✦AI Summary

HSH2D (hematopoietic SH2 domain containing) is an adapter protein that modulates immune and apoptotic responses. It functions in CD28-mediated T cell activation through signaling pathways that regulate interleukin-2 promoter activation 1. HSH2D is involved in protein-macromolecule adaptor activity and affects tyrosine kinase signaling downstream of CD28 1. At the molecular level, HSH2D exhibits regional epigenetic variation in lung macrophages, with differential DNA methylation associated with metabolic differences between upper and lower lung lobes 2. The gene is dysregulated in multiple disease contexts: it is downregulated in T-cell acute lymphoblastic leukemia compared to B-cell ALL, and HSH2D expression is necessary for methotrexate resistance in T-ALL cells 1. HSH2D is upregulated in doxorubicin-resistant colon cancer cells and serves as a poor prognostic marker, correlating with interferon signaling genes involved in chemoresistance 3. Additionally, HSH2D is upregulated in ulcerative colitis relative to Crohn's disease and functions as a T-cell activator in inflammatory bowel disease 4. Clinically, HSH2D represents a potential therapeutic target for overcoming drug resistance in cancer and managing inflammatory conditions through modulation of T cell activation and immune processes 1.

Sources cited
1
HSH2D is a T-cell activator involved in CD28-mediated signaling and methotrexate resistance in T-cell acute lymphoblastic leukemia
PMID: 33000278
2
HSH2D exhibits differential DNA methylation in lung macrophages associated with regional metabolic differences
PMID: 31356157
3
HSH2D is upregulated in doxorubicin-resistant proliferative colon cancer cells and serves as a poor prognostic marker
PMID: 39405604
4
HSH2D is a T-cell activator upregulated in ulcerative colitis and involved in immune response
PMID: 22488912
5
Hsh2d expression is upregulated in macrophages with p38α deficiency in experimental colitis, involved in immune process regulation
PMID: 35430508
Disease Associationsⓘ20
pathological myopiaOpen Targets
0.28Weak
generalized anxiety disorderOpen Targets
0.11Weak
acute lymphoblastic leukemiaOpen Targets
0.07Suggestive
cystic fibrosisOpen Targets
0.07Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.06Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.06Suggestive
SepsisOpen Targets
0.06Suggestive
colitisOpen Targets
0.04Suggestive
hyper-IgM syndrome type 3Open Targets
0.04Suggestive
reticular dysgenesisOpen Targets
0.04Suggestive
BENTA diseaseOpen Targets
0.04Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.04Suggestive
autoimmune lymphoproliferative syndrome type 2BOpen Targets
0.04Suggestive
Autoimmune lymphoproliferative syndrome with recurrent viral infectionsOpen Targets
0.04Suggestive
immunodeficiency 118Open Targets
0.04Suggestive
combined immunodeficiency due to CTPS1 deficiencyOpen Targets
0.04Suggestive
immunodeficiency, common variable, 7Open Targets
0.04Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.03Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.03Suggestive
thrombocythemia 1Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SH2D2AShared pathway100%TREML2Shared pathway100%TNK2Protein interaction86%ANXA1Protein interaction84%FPR2Protein interaction84%GPR32Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
16%
Liver
4%
Heart
1%
Ovary
1%
Brain
0%
Gene Interaction Network
Click a node to explore
HSH2DSH2D2ATREML2TNK2ANXA1FPR2GPR32
PROTEIN STRUCTURE
Preparing viewer…
PDB2CS0 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.42–1.11]
RankingsWhere HSH2D stands among ~20K protein-coding genes
  • #12,997of 20,598
    Most Researched25
  • #11,358of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedHSH2D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DNA Methylation Changes in Regional Lung Macrophages Are Associated with Metabolic Differences.
PMID: 31356157
Immunohorizons · 2019
1.00
2
Identification of an immune-based mRNA-lncRNA signature for overall survival in cervical squamous cell carcinoma.
PMID: 33724869
Future Oncol · 2021
0.90
3
P38α deficiency in macrophages ameliorates murine experimental colitis by regulating inflammation and immune process.
PMID: 35430508
Pathol Res Pract · 2022
0.80
4
Doxorubicin resistance involves modulation of interferon signaling, transcriptional bursting, and gene co-expression patterns of U-ISGF3-related genes.
PMID: 39405604
Neoplasia · 2024
0.70
5
Bioinformatics analysis reveals transcriptome and microRNA signatures and drug repositioning targets for IBD and other autoimmune diseases.
PMID: 22488912
Inflamm Bowel Dis · 2012
0.60