Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	339674
Gene name	Small integral membrane protein 45
Gene symbol	SMIM45
Synonyms (NCBI Gene)	BK250D10.8LINC00634
Chromosome	22
Chromosome location	22q13.2

7 Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IDA	36593289
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	36593289
GO:0005737	Component	Cytoplasm	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0042551	Process	Neuron maturation	IMP	36593289

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	A0A590UK83
Protein name	Small integral membrane protein 45
Protein function	Plays a role in the regulation of neuron maturation.
Family and domains
Tissue specificity	TISSUE SPECIFICITY: Highly expressed in brain. {ECO:0000269\|PubMed:36593289}.
Sequence
Sequence length
Interactions	View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	30636644	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32583748	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32583748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34880375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32583748	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with SMIM45 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for SMIM45.

Diseases Linked via Similar Genes Diseases curated for genes most similar to SMIM45 (see Related Genes above), that are NOT already directly curated for SMIM45 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to SMIM45.

SMIM45 (small integral membrane protein 45)

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