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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HAND1
heart and neural crest derivatives expressed 1
Chromosome 5 · 5q33.2
NCBI Gene: 9421Ensembl: ENSG00000113196.4HGNC: HGNC:4807UniProt: O96004
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription cis-regulatory region bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificDNA-binding transcription repressor activity, RNA polymerase II-specifichair morphologyandrogenetic alopeciaalcohol drinkingLeft bundle branch block
✦AI Summary

HAND1 is a basic helix-loop-helix transcription factor essential for cardiac morphogenesis and multipotent progenitor specification. During development, HAND1 exhibits concentration-dependent functions: low expression levels direct mesodermal progenitors toward multipotent juxta-cardiac field progenitors capable of generating cardiomyocytes and epicardial cells, while high expression promotes extraembryonic mesoderm development 1. HAND1 is required for cavity morphogenesis in self-organizing cardioids through a WNT-BMP signaling axis 2. The protein binds non-canonical E-box DNA sequences and acts as a transcriptional regulator controlling cardiac-specific gene expression in both development and adulthood 3. Abnormal HAND1 expression drives pathological cardiac remodeling. Cardiomyocyte-specific HAND1 overexpression in mice causes dilated cardiomyopathy phenotypes with impaired contractility and calcium handling, accompanied by widespread reprogramming of enhancer-promoter chr5 connectivity 4. HAND1 upregulation occurs in human dilated cardiomyopathy hearts and is implicated as a causal driver of transcriptional dysregulation in heart failure 4. Additionally, HAND1 disruption in trophoblast cells significantly alters global gene expression, suggesting extra-embryonic contributions to congenital heart disease pathogenesis 5. Hand1 mutations cause developmental defects including ventricular septal defects and persistent truncus arteriosus with variable penetrance 6.

Sources cited
1
HAND1 exhibits concentration-dependent, fate-determining function in mesodermal progenitors; low levels direct differentiation to multipotent juxta-cardiac field progenitors, high levels promote extraembryonic mesoderm development
PMID: 40164946
2
HAND1 is required for cavity morphogenesis in human cardioids and is a transcription factor linked to developmental heart chamber defects
PMID: 34019794
3
Hand factors are essential transcription factors controlling cardiac morphological development and post-natal heart function across neural crest cells, endocardium, myocardium, and epicardium
PMID: 30288953
4
HAND1 is upregulated in human dilated cardiomyopathy and mouse failing hearts; cardiomyocyte-specific Hand1 overexpression causes dilated cardiac remodeling with impaired contractility/calcium handling through reprogramming of enhancer-promoter chromatin connectivity
PMID: 35400201
5
HAND1 knockdown significantly disrupts trophoblast gene expression, suggesting extra-embryonic tissue contributions to congenital heart disease pathogenesis
PMID: 36695714
6
Hand1 phosphoregulation and dimer partner choice influence cardiac neural crest development; mutations produce congenital heart defects including ventricular septal defects and persistent truncus arteriosus with variable penetrance
PMID: 31338559
Disease Associationsⓘ20
hair morphologyOpen Targets
0.33Weak
androgenetic alopeciaOpen Targets
0.32Weak
alcohol drinkingOpen Targets
0.32Weak
Left bundle branch blockOpen Targets
0.29Weak
hypoplastic left heart syndromeOpen Targets
0.19Weak
congenital heart diseaseOpen Targets
0.19Weak
response to xenobiotic stimulusOpen Targets
0.16Weak
joint diseaseOpen Targets
0.13Weak
gastric cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.05Suggestive
colon carcinomaOpen Targets
0.05Suggestive
left ventricular noncompactionOpen Targets
0.03Suggestive
dilated cardiomyopathyOpen Targets
0.03Suggestive
cholangiocarcinomaOpen Targets
0.03Suggestive
body weight gainOpen Targets
0.03Suggestive
trigeminal nerve diseaseOpen Targets
0.03Suggestive
ventricular septal defectOpen Targets
0.03Suggestive
colorectal adenocarcinomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXP4Protein interaction94%NKX2-5Protein interaction74%MICAL2Shared pathway17%SOX18Shared pathway16%SOX17Shared pathway14%MYL2Shared pathway12%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Liver
0%
Bone Marrow
0%
Brain
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
HAND1FOXP4NKX2-5MICAL2SOX18SOX17MYL2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O96004
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.66 [0.39–1.19]
RankingsWhere HAND1 stands among ~20K protein-coding genes
  • #8,685of 20,598
    Most Researched51
  • #12,463of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedHAND1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cardioids reveal self-organizing principles of human cardiogenesis.
PMID: 34019794
Cell · 2021
1.00
2
Rewiring of 3D Chromatin Topology Orchestrates Transcriptional Reprogramming and the Development of Human Dilated Cardiomyopathy.
PMID: 35400201
Circulation · 2022
0.90
3
Enhanced sensitivity and scalability with a Chip-Tip workflow enables deep single-cell proteomics.
PMID: 39820750
Nat Methods · 2025
0.80
4
HAND1 level controls the specification of multipotent cardiac and extraembryonic progenitors from human pluripotent stem cells.
PMID: 40164946
EMBO J · 2025
0.70
5
Partially Penetrant Cardiac Neural Crest Defects in Hand1 Phosphomutant Mice: Dimer Choice That Is Not So Critical.
PMID: 31338559
Pediatr Cardiol · 2019
0.60