Homo sapiens Gene: MFSD8

Summary
InnateDB Gene IDBG-37596.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol MFSD8
Gene Name major facilitator superfamily domain containing 8
Synonyms CLN7
Species Homo sapiens
Ensembl Gene ENSG00000164073
Encoded Proteins
IDBP-37598 major facilitator superfamily domain containing 8
IDBP-482812 major facilitator superfamily domain containing 8
IDBP-484030 major facilitator superfamily domain containing 8
IDBP-595412 major facilitator superfamily domain containing 8
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: 128838960-128887150
Strand Reverse strand
Band q28.2
Transcripts
ENST00000296468  ENSP00000296468
ENST00000503928 
ENST00000515130 
ENST00000513559  ENSP00000425000
ENST00000504126 
ENST00000505284 
ENST00000509826  ENSP00000421176
ENST00000508441 
ENST00000541133  ENSP00000439616
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
 
Gene Ontology
Accession GO Term
Molecular Function
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 to membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000025759 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000044058 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
hsa04142  Lysosome
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8NHS3 
TrEMBL B7Z205 B7Z2B2 E7ERQ4
UniProt Splice Variant
Entrez Gene 256471 
UniGene Hs.480701 Hs.714983
RefSeq NM_152778 
HUGO 28486 
OMIM 611124
CCDS CCDS3736 
HPRD 14557
IMGT
EMBL AC099340 AK074564 AK294184 AK294527 AK315596 BC029503 CH471056
GenPept AAH29503  BAC11062  BAG37968  BAH11691  BAH11798  EAX05195 
ImmGen MFSD8 (murine) 
RNA Seq Atlas 256471