• Gene id: 118980

Gene Summary

• Gene Symbol: SFXN2   Gene   UCSC   Ensembl
• Aliases: SLC56A2
• Gene name: sideroflexin 2
• Alternate names: sideroflexin-2,
• Gene location: 10q24.32 (102714517: 102743491)     Exons: 17     NC_000010.11
• OMIM: 606633

Protein Summary

• Protein general information: Q96NB2  
  • Name: Sideroflexin 2
  • Length: 322  
  • Mass: 36232
  • Tissue specificity: Widely expressed, highest levels in kidney, liver, and pancreas. {ECO
• Sequence:

  MEADLSGFNIDAPRWDQRTFLGRVKHFLNITDPRTVFVSERELDWAKVMVEKSRMGVVPPGTQVEQLLYAKKLYD
  SAFHPDTGEKMNVIGRMSFQLPGGMIITGFMLQFYRTMPAVIFWQWVNQSFNALVNYTNRNAASPTSVRQMALSY
  FTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVAAANCVNIPMMRQQELIKGICVKDRNENEIGHSRRAAAIGI
  TQVVISRITMSAPGMILLPVIMERLEKLHFMQKVKVLHAPLQVMLSGCFLIFMVPVACGLFPQKCELPVSYLEPK
  LQDTIKAKYGELEPYVYFNKGL

• Structural information:
  • Interpro: IPR004686  
  • STRING: ENSP00000358909
• Other Databases: GeneCards:  SFXN2  Malacards:  SFXN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990542	mitochondrial transmembrane transport	IBA	biological process
GO:0140300	serine import into mitochondrion	IBA	biological process
GO:0022889	serine transmembrane transporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:1990542	mitochondrial transmembrane transport	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015075	ion transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0031966	mitochondrial membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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
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