HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMIM45
small integral membrane protein 45
Chromosome 22 Β· 22q13.2
NCBI Gene: 339674Ensembl: ENSG00000205704.10HGNC: HGNC:27930UniProt: A0A590UK83
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
neuron maturationnucleuscytoplasmmembranerefractive errorcarpal tunnel syndromeschizophreniaintelligence
✦AI Summary

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.

Sources cited
1
SMIM45 contains two ORFs with different evolutionary origins; the 107aa ORF is human-specific and may function in brain development
PMID: 38612733
2
SMIM45-107aa peptide promotes hepatocellular carcinoma progression via MTDH pathway and stabilizes MTDH protein
PMID: 41219895
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
refractive errorOpen Targets
0.06Suggestive
carpal tunnel syndromeOpen Targets
0.05Suggestive
schizophreniaOpen Targets
0.04Suggestive
intelligenceOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
bipolar disorderOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
anorexia nervosaOpen Targets
0.02Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
autism spectrum disorderOpen Targets
0.02Suggestive
major depressive disorderOpen Targets
0.02Suggestive
obsessive-compulsive disorderOpen Targets
0.02Suggestive
Tourette syndromeOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
esophageal cancerOpen Targets
0.00Suggestive
uterine leiomyosarcomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LGI4Shared pathway33%SRRM4Shared pathway17%B4GALT6Shared pathway14%CLN5Shared pathway11%B4GALT5Shared pathway10%ACTL6BShared pathway6%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
2%
Ovary
0%
Liver
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SMIM45LGI4SRRM4B4GALT6CLN5B4GALT5ACTL6B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A0A590UK83
View on AlphaFold β†—
RankingsWhere SMIM45 stands among ~20K protein-coding genes
  • #18,211of 20,598
    Most Researched6
Genes detectedSMIM45
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Evolution of a Human-Specific De Novo Open Reading Frame and Its Linked Transcriptional Silencer.
PMID: 38612733
Int J Mol Sci Β· 2024
1.00
2
-A novel peptide SMIM45-107aa promotes HCC progression via MTDH pathways and its anticancer peptide derivative.
PMID: 41219895
J Transl Med Β· 2025
0.50