SMIM30 (small integral membrane protein 30)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 401397
Gene name Small integral membrane protein 30
Gene symbol SMIM30
Synonyms (NCBI Gene)
LINC00998MAVI1
Chromosome 7
Chromosome location 7q31.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 37656786
GO:0005739 Component Mitochondrion IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A4D0T7
Protein name Small integral membrane protein 30 (Microprotein in antiviral immunity 1)
Protein function Negatively regulates antiviral innate immune responses (PubMed:37656786). Disrupts the interaction of antiviral protein MAVS with innate immune receptor RIGI and inhibits MAVS aggregation, resulting in the repression of type I interferon signali
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15873 DUF4730 1 → 54 Family
Sequence
Sequence length 59
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (13)
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.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Glioblastoma Glioblastoma Pubtator 33268783 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 33268783 Inhibit
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder Mental Depression BEFREE 27940106
★★★★★
★☆☆☆☆
Found in Text Mining only