Name

TMEM53 Gene

transmembrane protein 53

Involved in negative regulation of BMP signaling pathway; negative regulation of ossification; and regulation of nucleocytoplasmic transport. Located in nuclear membrane. Implicated in craniotubular dysplasia Ikegawa type. [provided by Alliance of Genome Resources, Mar 2025]

TMEM53 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for TMEM53 from the Pathway Commons Protein-Protein Interactions dataset.

Protein of unknown function DUF829, TMEM53 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protein of unknown function DUF829, TMEM53 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

TMEM53-related craniotubular dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the TMEM53-related craniotubular dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.