Homo sapiens Gene: MFSD8
Summary
InnateDB Gene IDBG-37596.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MFSD8
Gene Name major facilitator superfamily domain containing 8
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000164073
Encoded Proteins
major facilitator superfamily domain containing 8
major facilitator superfamily domain containing 8
major facilitator superfamily domain containing 8
Protein Structure
Entrez Gene
Summary 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. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:127917805-127965995
Strand Reverse strand
Band q28.2
Transcripts
ENST00000296468 ENSP00000296468
ENST00000503928
ENST00000515130
ENST00000513559 ENSP00000425000
ENST00000504126
ENST00000505284
ENST00000509826 ENSP00000421176
ENST00000508441
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0022857 transmembrane transporter activity
Biological Process
GO:0008219 cell death
GO:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8NHS3
TrEMBL B7Z205 E7ERQ4
UniProt Splice Variant
Entrez Gene 256471
UniGene Hs.480701 Hs.714983
RefSeq NM_152778 XM_005262893
HUGO HGNC:28486
OMIM 611124
CCDS CCDS3736
HPRD 14557
IMGT
EMBL AC099340 AK074564 AK294184 AK315596 BC029503 CH471056
GenPept AAH29503 BAC11062 BAG37968 BAH11691 EAX05195
ImmGen MFSD8 (murine)
RNA Seq Atlas 256471