• Gene id: 388931

Gene Summary

• Gene Symbol: MFSD2B   Gene   UCSC   Ensembl
• Gene name: major facilitator superfamily domain containing 2B
• Alternate names: major facilitator superfamily domain-containing protein 2B, hMfsd2b,
• Gene location: 2p23.3 (24009021: 24026774)     Exons: 14     NC_000002.12

Protein Summary

• Protein general information: A6NFX1  
  • Name: Major facilitator superfamily domain containing protein 2B (hMfsd2b)
  • Length: 504  
  • Mass: 53743
• Sequence:

  MAAPPAPAAKGSPQPEPHAPEPGPGSAKRGREDSRAGRLSFCTKVCYGIGGVPNQIASSATAFYLQLFLLDIAQI
  PAAQVSLVLFGGKVSGAAADPVAGFFINRSQRTGSGRLMPWVLGCTPFIALAYFFLWFLPPFTSLRGLWYTTFYC
  LFQALATFFQVPYTALTMLLTPCPRERDSATAYRMTVEMAGTLMGATVHGLIVSGAHRPHRCEATATPGPVTVSP
  NAAHLYCIAAAVVVVTYPVCISLLCLGVKERPDPSAPASGPGLSFLAGLSLTTRHPPYLKLVISFLFISAAVQVE
  QSYLVLFCTHASQLHDHVQGLVLTVLVSAVLSTPLWEWVLQRFGKKTSAFGIFAMVPFAILLAAVPTAPVAYVVA
  FVSGVSIAVSLLLPWSMLPDVVDDFQLQHRHGPGLETIFYSSYVFFTKLSGACALGISTLSLEFSGYKAGVCKQA
  EEVVVTLKVLIGAVPTCMILAGLCILMVGSTPKTPSRDASSRLSLRRRTSYSLA

• Structural information:
  • Interpro: IPR039672  IPR036259  
  • STRING: ENSP00000385527
• Other Databases: GeneCards:  MFSD2B  Malacards:  MFSD2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046624	sphingolipid transporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0071702	organic substance transport	IBA	biological process
GO:0046624	sphingolipid transporter activity	IDA	molecular function
GO:0006869	lipid transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0008643	carbohydrate transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process

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