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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HAND2
heart and neural crest derivatives expressed 2
Chromosome 4 Β· 4q34.1
NCBI Gene: 9464Ensembl: ENSG00000164107.9HGNC: HGNC:4808UniProt: P61296
68PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA-binding transcription activator activity, RNA polymerase II-specificregulation of tissue remodelingminor groove of adenine-thymine-rich DNA bindingprotein-containing complexatrial fibrillationfamilial isolated dilated cardiomyopathydilated cardiomyopathy 1Aesophageal disease
✦AI Summary

HAND2 (heart and neural crest derivatives expressed 2) is a basic helix-loop-helix (bHLH) transcription factor essential for multiple developmental processes 1. The protein functions as a DNA-binding transcription factor that forms heterodimers with Twist1 and binds to E-box consensus sequences to regulate gene expression 1. HAND2 plays critical roles in cardiac morphogenesis, particularly right ventricle formation and aortic arch development, as well as limb development through regulation of sonic hedgehog signaling 1. The gene demonstrates significant dosage sensitivity, where overexpression causes developmental defects in limbs, craniofacial structures, and vertebrae, directly contributing to human congenital disorders like partial trisomy distal 4q 1. In neuroblastoma, HAND2 participates in core regulatory circuitries that define sympathetic noradrenergic cell identity alongside PHOX2B and GATA3 2. The protein also contributes to super-enhancer formation with MYCN and MEIS2, regulating neuroblastoma cell proliferation networks 3. In cardiac pathology, HAND2 overexpression as part of cardiac reprogramming (MGTH) improves heart failure with preserved ejection fraction by reducing fibrosis and improving diastolic function 4. Additionally, HAND2 expression can be disrupted by environmental toxins like bisphenol A, potentially contributing to developmental abnormalities 5.

Sources cited
1
HAND2 is a bHLH transcription factor that forms heterodimers with Twist1 and shows dosage sensitivity causing developmental defects when overexpressed
PMID: 25248475
2
HAND2 participates in core regulatory circuitries defining sympathetic noradrenergic identity in neuroblastoma with PHOX2B and GATA3
PMID: 28740262
3
HAND2 forms super-enhancer complexes with MYCN and MEIS2 to regulate neuroblastoma cell proliferation networks
PMID: 38864832
4
HAND2 overexpression in cardiac reprogramming improves heart failure with preserved ejection fraction by reducing fibrosis
PMID: 39673349
5
HAND2 expression can be disrupted by bisphenol A, potentially contributing to pathological effects
PMID: 32796699
Disease Associationsβ“˜20
atrial fibrillationOpen Targets
0.52Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
dilated cardiomyopathy 1AOpen Targets
0.34Weak
esophageal diseaseOpen Targets
0.33Weak
Inguinal herniaOpen Targets
0.32Weak
cardiac arrhythmiaOpen Targets
0.29Weak
uterine fibroidOpen Targets
0.29Weak
facial morphologyOpen Targets
0.25Weak
atrial flutterOpen Targets
0.25Weak
cataractOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.19Weak
liver diseaseOpen Targets
0.19Weak
congenital anomaly of cardiovascular systemOpen Targets
0.18Weak
musculoskeletal system diseaseOpen Targets
0.18Weak
sialadenitisOpen Targets
0.17Weak
HypocalcemiaOpen Targets
0.16Weak
exostosisOpen Targets
0.16Weak
HerniaOpen Targets
0.16Weak
rotator cuff tearOpen Targets
0.15Weak
Pathogenic Variants2
NM_021973.3(HAND2):c.199G>T (p.Glu67Ter)Pathogenic
Dilated cardiomyopathy 1A
β˜…β˜†β˜†β˜†2018β†’ Residue 67
NM_021973.3(HAND2):c.390C>A (p.Pro130=)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†β†’ Residue 130
View on ClinVar β†—
Related Genes
MYOCDProtein interaction100%RUNX2Protein interaction89%TCF4Protein interaction85%TCF3Protein interaction85%ISL1Protein interaction83%PHOX2BProtein interaction83%
Tissue Expression6 tissues
Heart
100%
Ovary
42%
Liver
18%
Lung
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HAND2MYOCDRUNX2TCF4TCF3ISL1PHOX2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P61296
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.60LoF Tolerant
pLIβ“˜
0.89Intermediate
Observed/Expected LoF0.19 [0.08–0.60]
RankingsWhere HAND2 stands among ~20K protein-coding genes
  • #6,903of 20,598
    Most Researched68
  • #4,385of 5,498
    Most Pathogenic Variants2
  • #4,128of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedHAND2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cardiac Reprogramming and Gata4 Overexpression Reduce Fibrosis and Improve Diastolic Dysfunction in Heart Failure With Preserved Ejection Fraction.
PMID: 39673349
Circulation Β· 2025
1.00
2
Potential Mechanisms of Bisphenol A (BPA) Contributing to Human Disease.
PMID: 32796699
Int J Mol Sci Β· 2020
0.90
3
The Hand2 gene dosage effect in developmental defects and human congenital disorders.
PMID: 25248475
Curr Top Dev Biol Β· 2014
0.80
4
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.
PMID: 28740262
Nat Genet Β· 2017
0.70
5
Super-enhancer-driven IRF2BP2 enhances ALK activity and promotes neuroblastoma cell proliferation.
PMID: 38864832
Neuro Oncol Β· 2024
0.60