Gene Gene information from NCBI Gene database.
Entrez ID 54868
Gene name Solute carrier family 38 member 12
Gene symbol SLC38A12
Synonyms (NCBI Gene)
TMEM104
Chromosome 17
Chromosome location 17q25.1
miRNA miRNA information provided by mirtarbase database.
242
miRTarBase ID miRNA Experiments Reference
MIRT022835 hsa-miR-124-3p Microarray 18668037
MIRT022835 hsa-miR-124-3p PAR-CLIP 20371350
MIRT234598 hsa-miR-3154 PAR-CLIP 20371350
MIRT565340 hsa-miR-3622a-5p PAR-CLIP 20371350
MIRT565339 hsa-miR-936 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005575 Component Cellular_component ND
GO:0008150 Process Biological_process ND
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.
Q8NE00
Protein name Transmembrane protein 104
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 13 78 Transmembrane amino acid transporter protein Family
PF01490 Aa_trans 128 490 Transmembrane amino acid transporter protein Family
Sequence
Sequence length 496
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations