Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29957
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 24
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC25A24
Synonyms (NCBI Gene) Gene synonyms aliases
APC1, SCAMC-1, SCAMC1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005347 Function ATP transmembrane transporter activity IBA 21873635
GO:0005347 Function ATP transmembrane transporter activity IMP 22015608
GO:0005509 Function Calcium ion binding IDA 24332718
GO:0005739 Component Mitochondrion IDA 22015608, 29100093
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608744 20662 ENSG00000085491
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic aneurysm Aortic Aneurysm rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Eosinophilia Eosinophilia GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Dental caries Dental caries GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Mucinous Associate 34174878
Bone Diseases Developmental Associate 29100094
Breast Neoplasms Associate 18381931, 37277882
Carcinoma Intraductal Noninfiltrating Associate 18769130
Colorectal Neoplasms Associate 34174878
Conduct Disorder Associate 34561420
Craniosynostoses Associate 29100093
Hypertrichosis Associate 29100093
Metabolic Diseases Associate 29100094
Mitochondrial Diseases Associate 29100093