MFSD8 (major facilitator superfamily domain containing 8)

2014-11-01  

Identity

HGNC
MFSD8
LOCATION
4q28.2
LOCUSID
256471
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
350870902022Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.8
352163862022A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.5
354571102022Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.4
350870902022Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.8
352163862022A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.5
354571102022Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.4
332267112021Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.1
332267112021Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.1
303823712019Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.19
310063242019MFSD8 gene mutations; evidence for phenotypic heterogeneity.13
303823712019Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.19
310063242019MFSD8 gene mutations; evidence for phenotypic heterogeneity.13
295142152018Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.29
301448152018A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.7
295142152018Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.29

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/favicon/js/template.js