Gene Gene information from NCBI Gene database.
Entrez ID 55186
Gene name Solute carrier family 25 member 36
Gene symbol SLC25A36
Synonyms (NCBI Gene)
HHF8PNC2
Chromosome 3
Chromosome location 3q23
miRNA miRNA information provided by mirtarbase database.
1164
miRTarBase ID miRNA Experiments Reference
MIRT022564 hsa-miR-124-3p Microarray 18668037
MIRT046573 hsa-miR-222-3p CLASH 23622248
MIRT161171 hsa-miR-6768-3p HITS-CLIP 23824327
MIRT161166 hsa-miR-4753-5p HITS-CLIP 23824327
MIRT354710 hsa-miR-8066 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 25320081
GO:0005739 Component Mitochondrion IEA
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
616149 25554 ENSG00000114120
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96CQ1
Protein name Solute carrier family 25 member 36
Protein function Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Selectively transports cytosine, guanosine, inosine and uridine (deoxy)nucleoside mono-, di-, and triphosphates by antiport mechanism. Catalyzes un
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 2 113 Mitochondrial carrier protein Family
PF00153 Mito_carr 114 208 Mitochondrial carrier protein Family
PF00153 Mito_carr 222 311 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed at moderate level. Expressed most strongly in pancreas (PubMed:34971397). {ECO:0000269|PubMed:17210862, ECO:0000269|PubMed:34971397}.
Sequence
Sequence length 311
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Hyperinsulinemic hypoglycemia, familial, 8 Pathogenic rs1348479617, rs1027790661 RCV003152413
RCV003152414
★★★★☆
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Squamous Cell Stimulate 18618715
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 34576089
★☆☆☆☆
Found in Text Mining only
Growth Disorders Associate 34576089
★☆☆☆☆
Found in Text Mining only
Hyperinsulinism Associate 34576089
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Associate 34576089
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Associate 34576089
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Inhibit 34576089
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Associate 34576089
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Associate 18618715
★☆☆☆☆
Found in Text Mining only