Gene Gene information from NCBI Gene database.
Entrez ID 647087
Gene name Short transmembrane mitochondrial protein 1
Gene symbol STMP1
Synonyms (NCBI Gene)
C7orf73Mm47MtlbnPL-5283
Chromosome 7
Chromosome location 7q33
miRNA miRNA information provided by mirtarbase database.
64
miRTarBase ID miRNA Experiments Reference
MIRT624506 hsa-miR-3613-3p HITS-CLIP 23824327
MIRT624505 hsa-miR-4641 HITS-CLIP 23824327
MIRT624504 hsa-miR-4668-5p HITS-CLIP 23824327
MIRT526304 hsa-miR-186-5p PAR-CLIP 22012620
MIRT526303 hsa-miR-6507-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005741 Component Mitochondrial outer membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618755 41909 ENSG00000243317
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
E0CX11
Protein name Short transmembrane mitochondrial protein 1
Protein function Microprotein involved in mitochondrial respiratory chain complex III (ubiquinol-cytochrome c oxidoreductase) and complex IV (mitochondrial cytochrome c oxidase complex) assembly (PubMed:35450818). Required for the formation of mitochondrial supe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15054 DUF4535 4 44 Domain of unknown function (DUF4535) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in monocytes and dendritic cells. {ECO:0000269|PubMed:31836654}.
Sequence
Sequence length 47
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
MYELOPROLIFERATIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations