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DAND5

Chr 19p13.13

DAN domain BMP antagonist family member 5

Aliases:
FLJ38607, CKTSF1B3, DANTE, GREM3, CER2
MANE:
ENST00000317060.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Laterality disorders and isomerism

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • heterotaxy, visceral, 13, autosomal

    0.38
  • Heterotaxy

    0.29
  • breast cancer

    0.08
  • Heterotaxia

    0.06
  • breast carcinoma

    0.06
  • atrial septal defect

    0.06
  • atrial septal defect 1

    0.06
  • Congenitally uncorrected transposition of the great arteries

    0.05
  • ciliary dyskinesia, primary, 52

    0.05
  • heterotaxy, visceral, 12, autosomal

    0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DAN domain family member 5

Antagonist of the extracellular signaling protein NODAL, which is required for correct left-right patterning during embryonic development (By similarity). Antagonist of BMP and TGF-beta signaling (PubMed:33587337). Independently of its role in left-right axis establishment, plays a role during heart development, possibly through the regulation of TGF-beta/Nodal signaling pathway (By similarity). Displays anti-angiogenic activity by inhibiting endothelial sprouting, migration, and proliferation. Once internalized by endothelial cells, may alter their redox and glycolytic balance (PubMed:33587337)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.