• Gene id: 126321

Gene Summary

• Gene Symbol: MFSD12   Gene   UCSC   Ensembl
• Aliases: C19orf28, PP3501
• Gene name: major facilitator superfamily domain containing 12
• Alternate names: major facilitator superfamily domain-containing protein 12,
• Gene location: 19p13.3 (3557591: 3538269)     Exons: 12     NC_000019.10
• OMIM: 615289

Protein Summary

• Protein general information: Q6NUT3  
  • Name: Major facilitator superfamily domain containing protein 12
  • Length: 480  
  • Mass: 52075
• Sequence:

  MGPGPPAAGAAPSPRPLSLVARLSYAVGHFLNDLCASMWFTYLLLYLHSVRAYSSRGAGLLLLLGQVADGLCTPL
  VGYEADRAASCCARYGPRKAWHLVGTVCVLLSFPFIFSPCLGCGAATPEWAALLYYGPFIVIFQFGWASTQISHL
  SLIPELVTNDHEKVELTALRYAFTVVANITVYGAAWLLLHLQGSSRVEPTQDISISDQLGGQDVPVFRNLSLLVV
  GVGAVFSLLFHLGTRERRRPHAEEPGEHTPLLAPATAQPLLLWKHWLREPAFYQVGILYMTTRLIVNLSQTYMAM
  YLTYSLHLPKKFIATIPLVMYLSGFLSSFLMKPINKCIGRNMTYFSGLLVILAFAAWVALAEGLGVAVYAAAVLL
  GAGCATILVTSLAMTADLIGPHTNSGAFVYGSMSFLDKVANGLAVMAIQSLHPCPSELCCRACVSFYHWAMVAVT
  GGVGVAAALCLCSLLLWPTRLRRWDRDARP

• Structural information:
  • Interpro: IPR039672  IPR036259  
  • STRING: ENSP00000347583
• Other Databases: GeneCards:  MFSD12  Malacards:  MFSD12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005770	late endosome	IDA	cellular component
GO:0071702	organic substance transport	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	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:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0048022	negative regulation of melanin biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005765	lysosomal membrane	HDA	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
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