MFSD8 (major facilitator superfamily domain containing 8)

2014-11-01  

Identity

HGNC
LOCATION
4q28.2
LOCUSID
ALIAS
CCMD,CLN7

Other Information

Locus ID:

NCBI: 256471
MIM: 611124
HGNC: 28486
Ensembl: ENSG00000164073

Variants:

dbSNP: 256471
ClinVar: 256471
TCGA: ENSG00000164073
COSMIC: MFSD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164073ENST00000296468Q8NHS3
ENSG00000164073ENST00000509826A0A286YFH9
ENSG00000164073ENST00000513559E7ERQ4
ENSG00000164073ENST00000515130A0A286YEX1
ENSG00000164073ENST00000641025A0A286YF73
ENSG00000164073ENST00000641092A0A286YFM2
ENSG00000164073ENST00000641133A0A286YF00
ENSG00000164073ENST00000641134B7Z2B2
ENSG00000164073ENST00000641147A0A286YFB5
ENSG00000164073ENST00000641178A0A286YF45
ENSG00000164073ENST00000641186A0A286YFI8
ENSG00000164073ENST00000641228A0A286YFM2
ENSG00000164073ENST00000641243A0A286YFC6
ENSG00000164073ENST00000641264A0A286YER2
ENSG00000164073ENST00000641332A0A286YFC6
ENSG00000164073ENST00000641340A0A286YFH9
ENSG00000164073ENST00000641369A0A286YEW6
ENSG00000164073ENST00000641393A0A286YFB5
ENSG00000164073ENST00000641397A0A286YFK4
ENSG00000164073ENST00000641413A0A286YEY8
ENSG00000164073ENST00000641434Q8NHS3
ENSG00000164073ENST00000641447A0A286YFE6
ENSG00000164073ENST00000641464Q8NHS3
ENSG00000164073ENST00000641482A0A286YF73
ENSG00000164073ENST00000641503A0A286YFH3
ENSG00000164073ENST00000641508A0A286YFH9
ENSG00000164073ENST00000641509A0A286YFF1
ENSG00000164073ENST00000641538A0A286YEV9
ENSG00000164073ENST00000641558A0A286YF93
ENSG00000164073ENST00000641590A0A286YF72
ENSG00000164073ENST00000641658B7Z2B2
ENSG00000164073ENST00000641686Q8NHS3
ENSG00000164073ENST00000641690A0A286YEW8
ENSG00000164073ENST00000641695A0A286YFE7
ENSG00000164073ENST00000641742A0A286YFC6
ENSG00000164073ENST00000641743A0A286YF51
ENSG00000164073ENST00000641748Q8NHS3
ENSG00000164073ENST00000641753A0A286YFI9
ENSG00000164073ENST00000641774A0A286YEW7
ENSG00000164073ENST00000641776A0A286YFJ5
ENSG00000164073ENST00000641830A0A286YEW2
ENSG00000164073ENST00000641843A0A286YFG7
ENSG00000164073ENST00000641869A0A286YFM7
ENSG00000164073ENST00000641870A0A286YFC6
ENSG00000164073ENST00000641882A0A286YF82
ENSG00000164073ENST00000641928Q8NHS3
ENSG00000164073ENST00000641949A0A286YEV4
ENSG00000164073ENST00000642034A0A286YF72
ENSG00000164073ENST00000642042A0A286YFF5
ENSG00000164073ENST00000642078B7Z2B2

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192017632009Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.24
175649702007The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.0
188501192009A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.0
191775322009Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.0
192777322009Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.0
208264472010Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.0
244236452014Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.0
252275002015Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.0
252700502014Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.0
254397372015Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.0

Citation

Dessen P

MFSD8 (major facilitator superfamily domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68946/mfsd8