Gene Gene information from NCBI Gene database.
Entrez ID 8034
Gene name Solute carrier family 25 member 16
Gene symbol SLC25A16
Synonyms (NCBI Gene)
D10S105EGDAGDCHGT.1ML7hGPhML7
Chromosome 10
Chromosome location 10q21.3
Summary This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitoc
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs771745123 C>A,G Uncertain-significance, pathogenic Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs869312864 G>A Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
268
miRTarBase ID miRNA Experiments Reference
MIRT022969 hsa-miR-124-3p Microarray 18668037
MIRT672658 hsa-miR-6514-5p HITS-CLIP 22927820
MIRT672657 hsa-miR-143-3p HITS-CLIP 22927820
MIRT672656 hsa-miR-4770 HITS-CLIP 22927820
MIRT672655 hsa-miR-6088 HITS-CLIP 22927820
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139080 10986 ENSG00000122912
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16260
Protein name Solute carrier family 25 member 16 (Graves disease autoantigen) (GDA) (Graves disease carrier protein) (GDC) (Graves' didease protein) (hGP) (Mitochondrial solute carrier protein homolog)
Protein function May be involved in the transport of coenzyme A in the mitochondrial matrix (PubMed:11158296). Very little is known about the physiological function of this carrier (PubMed:11158296).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 32 125 Mitochondrial carrier protein Family
PF00153 Mito_carr 128 220 Mitochondrial carrier protein Family
PF00153 Mito_carr 237 332 Mitochondrial carrier protein Family
Sequence
Sequence length 332
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Coenzyme A biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebral visual impairment and intellectual disability Likely pathogenic rs869312864 RCV000210396
★★★★☆
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
autosomal recessive isolated fingernail dysplasia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Inherited isolated nail anomaly Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SECONDARY MALIGNANT NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Attention Deficit Disorder with Hyperactivity Associate 34226506
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Associate 34226506
★☆☆☆☆
Found in Text Mining only
Vision Disorders Associate 26350515
★☆☆☆☆
Found in Text Mining only