Heart- and Neural Crest Derivatives-Expressed 2

Alternative Names

  • HAND2
  • HLH Transcription Factor HAND2
  • Deciduum, Heart, Autonomic Nervous System, Neural Crest-Derived
  • DHAND2
  • DHAND
Back to search Result
OMIM Number

602407

NCBI Gene ID

9464

Uniprot ID

P61296

Length

5,261 bases

No. of Exons

2

No. of isoforms

2

Protein Name

Heart- and neural crest derivatives-expressed protein 2

Molecular Mass

23666 Da

Amino Acid Count

217

Genomic Location

chr4:173,524,969-173,530,229

Gene Map Locus
4q34.1

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, this transcription factor plays an important role in limb and branchial arch development.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_021973.3:c.605G>TLebanonchr4:173527326Likely PathogenicTetralogy of Fallot; Coarctation of AortaNG_046954.1:g.7902G>T; NM_021973.3:c.605G>T; NP_068808.1:p.Gly202Val
© CAGS 2024. All rights reserved.