• Gene id: 146167

Gene Summary

• Gene Symbol: SLC38A8   Gene   UCSC   Ensembl
• Aliases: FVH2
• Gene name: solute carrier family 38 member 8
• Alternate names: putative sodium-coupled neutral amino acid transporter 8,
• Gene location: 16q23.3 (84043371: 84009666)     Exons: 12     NC_000016.10
• Gene summary(Entrez): This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino a
• OMIM: 610859

Protein Summary

• Protein general information: A6NNN8  
  • Name: Putative sodium coupled neutral amino acid transporter 8 (Solute carrier family 38 member 8)
  • Length: 435  
  • Mass: 46731
  • Tissue specificity: Expressed in fetal and adult brain, and spinal cord. In the brain, it is localized in the cell body and axon of the majority of neuronal cells and in a subset of glial cells. Found throughout the neuronal retina, with higher expression
• Sequence:

  MEGQTPGSRGLPEKPHPATAAATLSSMGAVFILMKSALGAGLLNFPWAFSKAGGVVPAFLVELVSLVFLISGLVI
  LGYAAAVSGQATYQGVVRGLCGPAIGKLCEACFLLNLLMISVAFLRVIGDQLEKLCDSLLSGTPPAPQPWYADQR
  FTLPLLSVLVILPLSAPREIAFQKYTSILGTLAACYLALVITVQYYLWPQGLVRESHPSLSPASWTSVFSVFPTI
  CFGFQCHEAAVSIYCSMRKRSLSHWALVSVLSLLACCLIYSLTGVYGFLTFGTEVSADVLMSYPGNDMVIIVARV
  LFAVSIVTVYPIVLFLGRSVMQDFWRRSCLGGWGPSALADPSGLWVRMPLTILWVTVTLAMALFMPDLSEIVSII
  GGISSFFIFIFPGLCLICAMGVEPIGPRVKCCLEVWGVVSVLVGTFIFGQSTAAAVWEMF

• Structural information:
  • Interpro: IPR013057  
  • STRING: ENSP00000299709
• Other Databases: GeneCards:  SLC38A8  Malacards:  SLC38A8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003333	amino acid transmembrane transport	IBA	biological process
GO:0015171	amino acid transmembrane transporter activity	IBA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Foveal hypoplasia	KEGG:H01256
Foveal hypoplasia	KEGG:H01256
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