Gene Gene information from NCBI Gene database.
Entrez ID 114926
Gene name Small integral membrane protein 19
Gene symbol SMIM19
Synonyms (NCBI Gene)
C8orf40
Chromosome 8
Chromosome location 8p11.21
miRNA miRNA information provided by mirtarbase database.
55
miRTarBase ID miRNA Experiments Reference
MIRT706651 hsa-miR-6771-3p HITS-CLIP 21572407
MIRT707159 hsa-miR-4768-3p HITS-CLIP 21572407
MIRT706650 hsa-miR-1247-3p HITS-CLIP 21572407
MIRT706649 hsa-miR-6134 HITS-CLIP 21572407
MIRT707158 hsa-miR-4722-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96E16
Protein name Small integral membrane protein 19
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15117 UPF0697 10 107 Uncharacterised protein family UPF0697 Family
Sequence
Sequence length 107
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC BASAL GANGLIA CALCIFICATION 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations