• Gene id: 114789

Gene Summary

• Gene Symbol: SLC25A25   Gene   UCSC   Ensembl
• Aliases: MCSC, PCSCL, SCAMC-2
• Gene name: solute carrier family 25 member 25
• Alternate names: calcium-binding mitochondrial carrier protein SCaMC-2, mitochondrial ATP-Mg/Pi carrier protein 3, mitochondrial Ca(2+)-dependent solute carrier protein 3, short calcium-binding mitochondrial carrier 2, small calcium-binding mitochondrial carrier 2, solute carr,
• Gene location: 9q34.11 (128068199: 128109257)     Exons: 13     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transp

Protein Summary

• Protein general information: Q6KCM7  
  • Name: Calcium binding mitochondrial carrier protein SCaMC 2 (Mitochondrial ATP Mg/Pi carrier protein 3) (Mitochondrial Ca(2+) dependent solute carrier protein 3) (Small calcium binding mitochondrial carrier protein 2) (Solute carrier family 25 member 25)
  • Length: 469  
  • Mass: 52663
  • Tissue specificity: Present in various cell lines (at protein level). Widely expressed. Expressed in fetal and adult liver, skeletal muscle, testis, ovary, hippocampus and caudate nucleus. Isoform 1 is present in all tissues tested. Isoform 2 expression i
• Sequence:

  MLCLCLYVPVIGEAQTEFQYFESKGLPAELKSIFKLSVFIPSQEFSTYRQWKQKIVQAGDKDLDGQLDFEEFVHY
  LQDHEKKLRLVFKSLDKKNDGRIDAQEIMQSLRDLGVKISEQQAEKILKSMDKNGTMTIDWNEWRDYHLLHPVEN
  IPEIILYWKHSTIFDVGENLTVPDEFTVEERQTGMWWRHLVAGGGAGAVSRTCTAPLDRLKVLMQVHASRSNNMG
  IVGGFTQMIREGGARSLWRGNGINVLKIAPESAIKFMAYEQIKRLVGSDQETLRIHERLVAGSLAGAIAQSSIYP
  MEVLKTRMALRKTGQYSGMLDCARRILAREGVAAFYKGYVPNMLGIIPYAGIDLAVYETLKNAWLQHYAVNSADP
  GVFVLLACGTMSSTCGQLASYPLALVRTRMQAQASIEGAPEVTMSSLFKHILRTEGAFGLYRGLAPNFMKVIPAV
  SISYVVYENLKITLGVQSR

• Structural information:
  • Protein Domains: (47..8-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (78..11-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (114..14-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR011992  IPR002048  IPR002167  IPR002067  IPR018108   IPR023395  
  • Prosite: PS50222 PS50920
  • STRING: ENSP00000362159
• Other Databases: GeneCards:  SLC25A25  Malacards:  SLC25A25

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005347	ATP transmembrane transporter activity	IBA	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0060612	adipose tissue development	IEA	biological process
GO:0046034	ATP metabolic process	IEA	biological process
GO:0045333	cellular respiration	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0032094	response to food	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0002021	response to dietary excess	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015867	ATP transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 24778562

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
24778562	Hypospadias			13 (5 controls, 8 cases)	Male infertility	Microarray