Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
113444
Gene name Gene Name - the full gene name approved by the HGNC.
Small integral membrane protein 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMIM12
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf212
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023086 hsa-miR-124-3p Microarray 18668037
MIRT048730 hsa-miR-96-5p CLASH 23622248
MIRT038325 hsa-miR-130b-5p CLASH 23622248
MIRT482871 hsa-miR-4640-3p HITS-CLIP 23313552
MIRT482870 hsa-miR-1250-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q96EX1
Protein name Small integral membrane protein 12
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15990 UPF0767 1 87 UPF0767 family Family
Sequence
Sequence length 92
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Narcolepsy Narcolepsy N/A N/A GWAS