• Gene id: 6520

Gene Summary

• Gene Symbol: SLC3A2   Gene   UCSC   Ensembl
• Aliases: 4F2, 4F2HC, 4T2HC, CD98, CD98HC, MDU1, NACAE
• Gene name: solute carrier family 3 member 2
• Alternate names: 4F2 cell-surface antigen heavy chain, CD98 heavy chain, antigen defined by monoclonal antibody 4F2, heavy chain, antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43, lymphocyte activation antigen 4F2 large subunit, monoclonal antibody 44D7,
• Gene location: 11q12.3 (62856108: 62888859)     Exons: 14     NC_000011.10
• Gene summary(Entrez): This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded tr
• OMIM: 606936

Protein Summary

• Protein general information: P08195  
  • Name: 4F2 cell surface antigen heavy chain (4F2hc) (4F2 heavy chain antigen) (Lymphocyte activation antigen 4F2 large subunit) (Solute carrier family 3 member 2) (CD antigen CD98)
  • Length: 630  
  • Mass: 67994
  • Tissue specificity: Expressed ubiquitously in all tissues tested with highest levels detected in kidney, placenta and testis and weakest level in thymus. During gestation, expression in the placenta was significantly stronger at full-term than at the mid-
• Sequence:

  MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSELGSHCVAQTGLELLASGDPLPSASQNAEMIETGSDCV
  TQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEPEKQPMNAASGAAMSLAGAEKNGLVKIKVAE
  DEAEAAAAAKFTGLSKEELLKVAGSPGWVRTRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALY
  RIGDLQAFQGHGAGNLAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKK
  SIRVILDLTPNYRGENSWFSTQVDTVATKVKDALEFWLQAGVDGFQVRDIENLKDASSFLAEWQNITKGFSEDRL
  LIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVTQYLNATGNRWCSWSLSQARLLTSFLPAQLL
  RLYQLMLFTLPGTPVFSYGDEIGLDAAALPGQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRR
  LSDQRSKERSLLHGDFHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQ
  PGREEGSPLELERLKLEPHEGLLLRFPYAA

• Structural information:
  • Interpro: IPR006047  IPR013780  IPR017853  IPR042280  IPR031984  
  • PDB: 2DH2 2DH3 6IRS 6IRT 6JMQ 6JMR
  • PDBsum: 2DH2 2DH3 6IRS 6IRT 6JMQ 6JMR
  • STRING: ENSP00000367123
• Other Databases: GeneCards:  SLC3A2  Malacards:  SLC3A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0015173	aromatic amino acid transmembrane transporter activity	IGI	molecular function
GO:0015175	neutral amino acid transmembrane transporter activity	IGI	molecular function
GO:0098713	leucine import across plasma membrane	IGI	biological process
GO:0015823	phenylalanine transport	IGI	biological process
GO:1990184	amino acid transport complex	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006865	amino acid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0043330	response to exogenous dsRNA	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:1902475	L-alpha-amino acid transmembrane transport	TAS	biological process
GO:0006865	amino acid transport	TAS	biological process
GO:0050900	leukocyte migration	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:0045296	cadherin binding	HDA	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903801	L-leucine import across plasma membrane	ISS	biological process
GO:0015827	tryptophan transport	ISS	biological process
GO:0006816	calcium ion transport	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006865	amino acid transport	TAS	biological process
GO:0009986	cell surface	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0015175	neutral amino acid transmembrane transporter activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005432	calcium:sodium antiporter activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04150	mTOR signaling pathway
hsa04974	Protein digestion and absorption
hsa04216	Ferroptosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray