• Gene id: 256471

Gene Summary

• Gene Symbol: MFSD8   Gene   UCSC   Ensembl
• Aliases: CCMD, CLN7
• Gene name: major facilitator superfamily domain containing 8
• Alternate names: major facilitator superfamily domain-containing protein 8, ceroid-lipofuscinosis, neuronal 7, late infantile,
• Gene location: 4q28.2 (127965987: 127917731)     Exons: 13     NC_000004.12
• Gene summary(Entrez): This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. Th
• OMIM: 611124

Protein Summary

• Protein general information: Q8NHS3  
  • Name: Major facilitator superfamily domain containing protein 8 (Ceroid lipofuscinosis neuronal protein 7)
  • Length: 518  
  • Mass: 57628
  • Tissue specificity: Expressed at very low levels in all tissues tested. {ECO
• Sequence:

  MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSF
  LGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVA
  VVRSYTAGATSLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNI
  ILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAW
  TQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIP
  NTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQ
  GVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000296468
• Other Databases: GeneCards:  MFSD8  Malacards:  MFSD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:1905165	regulation of lysosomal protein catabolic process	IEA	biological process
GO:0097352	autophagosome maturation	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0038202	TORC1 signaling	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010506	regulation of autophagy	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Neuronal ceroid lipofuscinosis	KEGG:H00149
Neuronal ceroid lipofuscinosis	KEGG:H00149
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq