• Gene id: 292

Gene Summary

• Gene Symbol: SLC25A5   Gene   UCSC   Ensembl
• Aliases: 2F1, AAC2, ANT2, T2, T3
• Gene name: solute carrier family 25 member 5
• Alternate names: ADP/ATP translocase 2, ADP,ATP carrier protein, fibroblast isoform, adenine nucleotide translocator 2 (fibroblast), solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5,
• Gene location: Xq24 (7939519: 7938575)     Exons: 1     NC_000011.10
• Gene summary(Entrez): This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix i
• OMIM: 300150

SNPs

rs9852810

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.37027478G>A
NC_000003.11   g.37068969G>A
NG_007109.2   g.39129G>A|SEQ=[G/A]|GENE=MLH1

rs4647269

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.37016100C>T
NC_000003.11   g.37057591C>T
NG_007109.2   g.27751C>T|SEQ=[C/T]|GENE=MLH1

rs1800734

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.36993455G>A
NC_000003.12   g.36993455G>C
NC_000003.11   g.37034946G>A
NC_000003.11   g.37034946G>C
NG_007109.2   g.5106G>A
NG_007109.2   g.5106G>C
NM_000249.3   c.-93G>A
NM_000249.3   c.-93G>C
NM_001258274.2   c.-1188G>A
NM_001258274.2   c.-1188G>C
NM_0  

rs605059

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

Protein Summary

• Protein general information: P05141  
  • Name: ADP/ATP translocase 2 (ADP,ATP carrier protein 2) (ADP,ATP carrier protein, fibroblast isoform) (Adenine nucleotide translocator 2) (ANT 2) (Solute carrier family 25 member 5) [Cleaved into: ADP/ATP translocase 2, N terminally processed]
  • Length: 298  
  • Mass: 32852
• Sequence:

  MTDAAVSFAKDFLAGGVAAAISKTAVAPIERVKLLLQVQHASKQITADKQYKGIIDCVVRIPKEQGVLSFWRGNL
  ANVIRYFPTQALNFAFKDKYKQIFLGGVDKRTQFWLYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKAGA
  EREFRGLGDCLVKIYKSDGIKGLYQGFNVSVQGIIIYRAAYFGIYDTAKGMLPDPKNTHIVISWMIAQTVTAVAG
  LTSYPFDTVRRRMMMQSGRKGTDIMYTGTLDCWRKIARDEGGKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYT

• Structural information:
  • Interpro: IPR002113  IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • DIP: 33873
  • STRING: ENSP00000360671
• Other Databases: GeneCards:  SLC25A5  Malacards:  SLC25A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005471	ATP:ADP antiporter activity	IBA	molecular function
GO:0071817	MMXD complex	IDA	cellular component
GO:1901029	negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0015207	adenine transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0015853	adenine transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0015866	ADP transport	IEA	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005739	mitochondrion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0000295	adenine nucleotide transmembrane transporter activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051503	adenine nucleotide transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05166	Human T-cell leukemia virus 1 infection
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04217	Necroptosis
hsa05164	Influenza A
hsa04218	Cellular senescence

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray