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GON4L

Chr 1q22

gon-4 like

Aliases:
FLJ20203, GON-4, YARP
MANE:
ENST00000368331.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Li-Takada-Miyake syndrome

    0.52
  • neurodegenerative disease

    0.52
  • atrial fibrillation

    0.26
  • Abnormality of the skeletal system

    0.25
  • nervous system disorder

    0.23
  • gastric carcinoma

    0.20
  • ependymoma

    0.11
  • hemorrhage

    0.10
  • gastric ulcer

    0.10
  • gout

    0.08

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

Protein function (UniProt)

GON-4-like protein

Acts as a key transcription regulator of histones (PubMed:25339177, PubMed:40516528, PubMed:40516529). Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with GON4L and MIZF (PubMed:25339177). Together with CRAMP1, binds to the promoters of H1 genes (H1-2, H1-3, H1-4, H1-5 and H1-10/H1x), driving their transcription (PubMed:40516528, PubMed:40516529). Also acts as a transcription corepressor, as part of a complex with YY1, SIN3A and HDAC1 (By similarity). Required for B-cell lymphopoiesis (By similarity)

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.