• Gene id: 54977

Gene Summary

• Gene Symbol: SLC25A38   Gene   UCSC   Ensembl
• Aliases: SIDBA2
• Gene name: solute carrier family 25 member 38
• Alternate names: mitochondrial glycine transporter, appoptosin, mitochondrial glycine transporter GlyC,
• Gene location: 3p22.1 (39383352: 39397350)     Exons: 10     NC_000003.12
• Gene summary(Entrez): This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, side
• OMIM: 610819

Protein Summary

• Protein general information: Q96DW6  
  • Name: Mitochondrial glycine transporter (Mitochondrial glycine transporter GlyC) (Solute carrier family 25 member 38)
  • Length: 304  
  • Mass: 33566
  • Tissue specificity: Preferentially expressed in erythroid cells. {ECO
• Sequence:

  MIQNSRPSLLQPQDVGDTVETLMLHPVIKAFLCGSISGTCSTLLFQPLDLLKTRLQTLQPSDHGSRRVGMLAVLL
  KVVRTESLLGLWKGMSPSIVRCVPGVGIYFGTLYSLKQYFLRGHPPTALESVMLGVGSRSVAGVCMSPITVIKTR
  YESGKYGYESIYAALRSIYHSEGHRGLFSGLTATLLRDAPFSGIYLMFYNQTKNIVPHDQVDATLIPITNFSCGI
  FAGILASLVTQPADVIKTHMQLYPLKFQWIGQAVTLIFKDYGLRGFFQGGIPRALRRTLMAAMAWTVYEEMMAKM
  GLKS

• Structural information:
  • Interpro: IPR030847  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000273158
• Other Databases: GeneCards:  SLC25A38  Malacards:  SLC25A38

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904983	glycine import into mitochondrion	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0015187	glycine transmembrane transporter activity	IBA	molecular function
GO:0030218	erythrocyte differentiation	IMP	biological process
GO:0006783	heme biosynthetic process	TAS	biological process
GO:1904983	glycine import into mitochondrion	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015187	glycine transmembrane transporter activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:1904983	glycine import into mitochondrion	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015187	glycine transmembrane transporter activity	IEA	molecular function

Diseases

Associated diseases	References
Sideroblastic anemia	KEGG:H00982
Sideroblastic anemia	KEGG:H00982
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881