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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SHD
Src homology 2 domain containing transforming protein D
Chromosome 19 · 19p13.3
NCBI Gene: 56961Ensembl: ENSG00000105251.12HGNC: HGNC:30633UniProt: Q96IW2
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphotyrosine residue bindingparalytic strabismusBarrett's esophagusataxia telangiectasianeoplasm
✦AI Summary

Insufficient information available. The provided PubMed abstracts do not contain relevant data about SHD (Src homology 2 domain containing transforming protein D) gene function. The abstracts primarily discuss clinical applications of the acronym 'SHD' in other contexts: surgical hip dislocation with impaction bone grafting for osteonecrosis 1, structural heart disease screening via deep learning 2, environmental metallo-β-lactamases 3, state health department program adaptation 4, structural heart disease emergencies 5, succinate dehydrogenase-deficient gastrointestinal stromal tumors 6, spastic hip dysplasia in cerebral palsy 7, and ventricular arrhythmias in structural heart disease 8. None of these abstracts address the molecular function, mechanism, disease relevance, or clinical significance of the SHD protein as an adapter molecule with Src homology 2 domain and phosphotyrosine-binding capabilities. To provide an accurate gene function summary grounded in peer-reviewed literature, PubMed abstracts specifically investigating this protein's role in cell signaling, protein interactions, or disease pathophysiology would be required.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
paralytic strabismusOpen Targets
0.12Weak
Barrett's esophagusOpen Targets
0.06Suggestive
ataxia telangiectasiaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
acute kidney injuryOpen Targets
0.02Suggestive
oligodendrogliomaOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
myotonic dystrophyOpen Targets
0.00Suggestive
visceral LeishmaniasisOpen Targets
0.00Suggestive
cardiovascular diseaseOpen Targets
0.00Suggestive
cerebral creatine deficiency syndromeOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DHRS2Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Liver
15%
Bone Marrow
10%
Heart
2%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SHDDHRS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96IW2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.74–1.30]
RankingsWhere SHD stands among ~20K protein-coding genes
  • #16,894of 20,598
    Most Researched11
  • #13,665of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedSHD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comparison of SHD-IBG and PVIBGT in ONFH including mechanical and pathological analysis of failure cases.
PMID: 38909104
Sci Rep · 2024
1.00
2
Ensemble Deep Learning Algorithm for Structural Heart Disease Screening Using Electrocardiographic Images: PRESENT SHD.
PMID: 40139886
J Am Coll Cardiol · 2025
0.90
3
Structural and biochemical characterization of the environmental MBLs MYO-1, ECV-1 and SHD-1.
PMID: 32464640
J Antimicrob Chemother · 2020
0.80
4
Program adaptation by health departments.
PMID: 36172214
Front Public Health · 2022
0.70
5
Structural Heart Disease Emergencies.
PMID: 32314662
J Intensive Care Med · 2021
0.60