• Gene id: 83733

Gene Summary

• Gene Symbol: SLC25A18   Gene   UCSC   Ensembl
• Aliases: GC2
• Gene name: solute carrier family 25 member 18
• Alternate names: mitochondrial glutamate carrier 2, glutamate/H(+) symporter 2, solute carrier family 25 (glutamate carrier), member 18, solute carrier family 25 (mitochondrial carrier), member 18,
• Gene location: 22q11.21 (35044906: 35083382)     Exons: 8     NC_000014.9
• OMIM: 609303

Protein Summary

• Protein general information: Q9H1K4  
  • Name: Mitochondrial glutamate carrier 2 (GC 2) (Glutamate/H(+) symporter 2) (Solute carrier family 25 member 18)
  • Length: 315  
  • Mass: 33849
• Sequence:

  MTHQDLSITAKLINGGVAGLVGVTCVFPIDLAKTRLQNQHGKAMYKGMIDCLMKTARAEGFFGMYRGAAVNLTLV
  TPEKAIKLAANDFFRRLLMEDGMQRNLKMEMLAGCGAGMCQVVVTCPMEMLKIQLQDAGRLAVHHQGSASAPSTS
  RSYTTGSASTHRRPSATLIAWELLRTQGLAGLYRGLGATLLRDIPFSIIYFPLFANLNNLGFNELAGKASFAHSF
  VSGCVAGSIAAVAVTPLDVLKTRIQTLKKGLGEDMYSGITDCARKLWIQEGPSAFMKGAGCRALVIAPLFGIAQG
  VYFIGIGERILKCFD

• Structural information:
  • Interpro: IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000329033
• Other Databases: GeneCards:  SLC25A18  Malacards:  SLC25A18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043490	malate-aspartate shuttle	IBA	biological process
GO:0015813	L-glutamate transmembrane transport	IBA	biological process
GO:0015810	aspartate transmembrane transport	IBA	biological process
GO:0015183	L-aspartate transmembrane transporter activity	IBA	molecular function
GO:0005313	L-glutamate transmembrane transporter activity	IBA	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006811	ion transport	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:0070778	L-aspartate transmembrane transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq