MFSD8

GENERAL INFORMATION

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Gene name

MFSD8

Gene description

Major facilitator superfamily domain containing 8

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Moderate cytoplasmic positivity was observed in most normal tissues. Cells in seminiferus ducts of testis, upper airway epithelium, adrenal gland and fallopian tube showed strong cytoplasmic staining. Renal tubules and parathyroid gland exhibited additional distinct membranous positivity. Liver was weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA044802
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

MFSD8 (HGNC Symbol)

Synonyms

CLN7, MGC33302

Description

Major facilitator superfamily domain containing 8 (HGNC Symbol)

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]

Chromosome

4

Cytoband

q28.2

Chromosome location (bp)

127917805 - 127965995

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164073 (version 78.38)

Entrez gene

256471

UniProt

Q8NHS3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NHS3

Antibodypedia

MFSD8 antibodies


PROTEIN BROWSER

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ENST00000296468
 
ENST00000513559
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MFSD8-001 ENSP00000296468
ENST00000296468
Q8NHS3
Show all »
Show » Show » 518 57.6 No >9
MFSD8-003 ENSP00000425000
ENST00000513559
E7ERQ4
Show all »
Show » Show » 473 52.3 No >9