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Gene : HAND1 Homo sapiens

Name  ? heart and neural crest derivatives expressed 1 Cytological Location  5q33.2
Brief Description  heart and neural crest derivatives expressed 1
Description  The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]
  • synonyms:
  • bHLHa27,
  • HGNC:4807,
  • bHLHa27,
  • uc003lvn.3,
  • HAND1,
  • OTTHUMG00000130193,
  • eHand,
  • Thing1,
  • eHand,
  • Thing1,
  • Hxt,
  • Hxt,
  • NM_004821,
  • AF061756
  • identifiers:
  • 9421,
  • ENSG00000113196,
  • HAND1

Genome feature

Region: gene ? Length: 3256  
Location: 5:154474972-154478227 reverse strand Cyto location: 5q33.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

0 Pathways

12 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results