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TMEM260

Chr 14q22.3

transmembrane protein 260

Aliases:
FLJ20392
MANE:
ENST00000261556.11

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • CAKUT

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • structural heart defects and renal anomalies syndrome

    0.74
  • Ulbright-Hodes syndrome

    0.64
  • alcohol drinking

    0.35
  • Type I truncus arteriosus

    0.34
  • osteoarthritis, hip

    0.30
  • mastodynia

    0.29
  • arthropathy

    0.29
  • urolithiasis

    0.29
  • DNA methylation

    0.28
  • inflammatory bowel disease

    0.25

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

Protein function (UniProt)

Protein O-mannosyl-transferase TMEM260

O-mannosyl-transferase that transfers mannosyl residues to the hydroxyl group of serine or threonine residues of proteins (PubMed:37186866). Specifically glycosylates the IPT/TIG domain of target proteins, such as MET and MST1R/RON (PubMed:37186866). TMEM260-mediated O-mannosylated residues are composed of single mannose glycans that are not elongated or modified (PubMed:37186866)

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.