Gene Gene information from NCBI Gene database.
Entrez ID 29957
Gene name Solute carrier family 25 member 24
Gene symbol SLC25A24
Synonyms (NCBI Gene)
APC1SCAMC-1SCAMC1
Chromosome 1
Chromosome location 1p13.3
Summary This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1553253989 C>T Pathogenic Coding sequence variant, missense variant
rs1553253990 G>A Pathogenic Coding sequence variant, missense variant
rs1571285932 C>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
375
miRTarBase ID miRNA Experiments Reference
MIRT001592 hsa-let-7b-5p pSILAC 18668040
MIRT001592 hsa-let-7b-5p Proteomics;Other 18668040
MIRT641921 hsa-miR-4275 HITS-CLIP 23824327
MIRT641920 hsa-miR-374a-5p HITS-CLIP 23824327
MIRT641919 hsa-miR-374b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000295 Function Adenine nucleotide transmembrane transporter activity IDA 15123600
GO:0005347 Function ATP transmembrane transporter activity IBA
GO:0005347 Function ATP transmembrane transporter activity IMP 22015608
GO:0005509 Function Calcium ion binding EXP 24332718
GO:0005509 Function Calcium ion binding IDA 24332718
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608744 20662 ENSG00000085491
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NUK1
Protein name Mitochondrial adenyl nucleotide antiporter SLC25A24 (Mitochondrial ATP-Mg/Pi carrier protein 1) (Mitochondrial Ca(2+)-dependent solute carrier protein 1) (Short calcium-binding mitochondrial carrier protein 1) (SCaMC-1) (Solute carrier family 25 member 24
Protein function Electroneutral antiporter that mediates the transport of adenyl nucleotides through the inner mitochondrial membrane. Originally identified as an ATP-magnesium/inorganic phosphate antiporter, it also acts as a broad specificity adenyl nucleotide
PDB 4N5X , 4ZCU , 4ZCV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 22 85 EF-hand domain pair Domain
PF13499 EF-hand_7 88 152 EF-hand domain pair Domain
PF00153 Mito_carr 190 283 Mitochondrial carrier protein Family
PF00153 Mito_carr 284 376 Mitochondrial carrier protein Family
PF00153 Mito_carr 382 475 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested. Highly expressed in testis, expressed at intermediate level in small intestine and pancreas, and weakly expressed in kidney, spleen, liver, skeletal muscle and heart. {ECO:0000269|PubMed:15054102, ECO:0
Sequence
Sequence length 477
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
Bilateral tonic-clonic seizure Likely pathogenic rs1571285932 RCV000853499
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dementia Likely pathogenic rs1571285932 RCV000853499
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fontaine progeroid syndrome Pathogenic rs1553253990, rs1553253989 RCV000508644
RCV000508607
★★★★☆
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal dermatoglyphic pattern Abnormal dermatoglyphic pattern HPO_DG
★☆☆☆☆
Found in Text Mining only
Acrocephaly Acrocephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 30511962
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases Developmental Bone disease Pubtator 29100094 Associate
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21246238
★☆☆☆☆
Found in Text Mining only