Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9421
MIM: 602406
HGNC: 4807
Ensembl: ENSG00000113196
Variants:
dbSNP: 9421
ClinVar: 9421
TCGA: ENSG00000113196
COSMIC: HAND1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000113196 | ENST00000231121 | O96004 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signaling pathways regulating pluripotency of stem cells | KEGG | hsa04550 |
| Signaling pathways regulating pluripotency of stem cells | KEGG | ko04550 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38551686 | 2024 | Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease. | 0 |
| 38551686 | 2024 | Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease. | 0 |
| 36695714 | 2023 | HAND1 knockdown disrupts trophoblast global gene expression. | 3 |
| 36695714 | 2023 | HAND1 knockdown disrupts trophoblast global gene expression. | 3 |
| 34391879 | 2022 | Human HAND1 inhibits the conversion of cholesterol to steroids in trophoblasts. | 6 |
| 34391879 | 2022 | Human HAND1 inhibits the conversion of cholesterol to steroids in trophoblasts. | 6 |
| 33451979 | 2021 | HAND1 and BARX1 Act as Transcriptional and Anatomic Determinants of Malignancy in Gastrointestinal Stromal Tumor. | 11 |
| 34297940 | 2021 | Expression dynamics of HAND1/2 in in vitro human cardiomyocyte differentiation. | 5 |
| 33451979 | 2021 | HAND1 and BARX1 Act as Transcriptional and Anatomic Determinants of Malignancy in Gastrointestinal Stromal Tumor. | 11 |
| 34297940 | 2021 | Expression dynamics of HAND1/2 in in vitro human cardiomyocyte differentiation. | 5 |
| 27942761 | 2017 | HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot. | 4 |
| 28112363 | 2017 | HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle. | 7 |
| 27942761 | 2017 | HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot. | 4 |
| 28112363 | 2017 | HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle. | 7 |
| 26581070 | 2016 | HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy. | 9 |
Citation
Dessen P
HAND1 (heart and neural crest derivatives expressed 1)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/54976/hand1-(heart-and-neural-crest-derivatives-expressed-1)
