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SPIN4

Chr Xq11.1

spindlin family member 4

Aliases:
FLJ44984, TDRD28
MANE:
ENST00000374884.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

  • Lui-Jee-Baron syndrome

    0.42
  • rheumatoid arthritis

    0.30
  • type 2 diabetes mellitus

    0.26
  • diabetes mellitus

    0.21
  • myocardial ischemia

    0.17
  • hypertensive disorder

    0.15
  • response to xenobiotic stimulus

    0.15
  • heart disorder

    0.15
  • depressive disorder

    0.15
  • obesity due to melanocortin 4 receptor deficiency

    0.11

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

Protein function (UniProt)

Spindlin-4

Binds to acetylated and methylated histones, including H3K4me3 and H4K20me3, probably acting as a histone reader that recognizes chromatin marks and mediates downstream cellular effects (PubMed:29061846, PubMed:36927955). Promotes canonical WNT signaling, and is involved in the down-regulation of cell proliferation (PubMed:36927955)

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.