2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
neuron maturationnucleuscytoplasmmembranerefractive errorcarpal tunnel syndromeschizophreniaintelligence
Based on limited published evidence, SMIM45 encodes small integral membrane proteins involved in neuron maturation according to UniProt annotations. The gene contains two open reading frames with distinct evolutionary origins: a conserved 68-amino acid sequence traceable to early vertebrate evolution, and a human-specific 107-amino acid peptide (SMIM45-107aa) that emerged during primate evolution 1. Recent studies show SMIM45-107aa is highly expressed in hepatocellular carcinoma tissues and promotes HCC progression through MTDH-MGST1-pAKT pathway interactions 2. A derived peptide inhibitor demonstrates anticancer potential, suggesting therapeutic applications.
1
SMIM45 contains two ORFs with different evolutionary origins; the 107aa ORF is human-specific and may function in brain development
PMID: 386127332
SMIM45-107aa peptide promotes hepatocellular carcinoma progression via MTDH pathway and stabilizes MTDH protein
PMID: 41219895β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
refractive errorOpen Targets
carpal tunnel syndromeOpen Targets
schizophreniaOpen Targets
hepatocellular carcinomaOpen Targets
bipolar disorderOpen Targets
colorectal carcinomaOpen Targets
anorexia nervosaOpen Targets
attention deficit hyperactivity disorderOpen Targets
autism spectrum disorderOpen Targets
major depressive disorderOpen Targets
obsessive-compulsive disorderOpen Targets
Tourette syndromeOpen Targets
non-small cell lung carcinomaOpen Targets
glioblastoma multiformeOpen Targets
esophageal cancerOpen Targets
uterine leiomyosarcomaOpen Targets
gastric cancerOpen Targets
No pathogenic variants reported on ClinVar for this gene.