MFSD8 major facilitator superfamily domain containing 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFSD8provided by HGNC
Official Full Name: major facilitator superfamily domain containing 8provided by HGNC
Primary source: HGNC:HGNC:28486
See related: Ensembl:ENSG00000164073 MIM:611124; AllianceGenome:HGNC:28486
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CCMD; CLN7
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]
Expression: Ubiquitous expression in skin (RPKM 4.9), thyroid (RPKM 4.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q28.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (127917732..127965963, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (131220758..131270005, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (128838887..128887118, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Title: Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Title: Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Title: A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Title: Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.
Title: Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.
that MFSD8-associated lysosomal dysfunction may contribute to frontotemporal lobar degeneration pathology
Title: Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Here and for the first time, we reported on two previously variant late-infantile neuronal ceroid lipofuscinoses-associated variants in MFSD8 but in association with a form of cone-rod dystrophy known as non-syndromic macular dystrophy with central cone involvement.
Title: MFSD8 gene mutations; evidence for phenotypic heterogeneity.
We identified a novel homozygous mutation in MFSD8 gene.
Title: A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
Quantification revealed that the amounts of 12 different soluble lysosomal proteins were significantly reduced in Cln7 ko MEFs compared with wild-type controls. One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder
Title: Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease.
Title: Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Macular dystrophy with central cone involvement MedGen: C4015371 OMIM: 616170 GeneReviews: Not available	Compare labs
Neuronal ceroid lipofuscinosis 7 MedGen: C1838571 OMIM: 610951 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-50195 (e-PCR)
- UniSTS:59093

SHGC-16476 (e-PCR)
- UniSTS:59094

RH48272 (e-PCR)
- UniSTS:59872

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables fluoride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables iodide transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables iodide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in TORC1 signaling	IEA Inferred from Electronic Annotation more info
involved_in astrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in autophagosome maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome maturation	IEA Inferred from Electronic Annotation more info
involved_in cellular respiration	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in fluoride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glycolipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycolytic process	IEA Inferred from Electronic Annotation more info
involved_in glycoprotein metabolic process	IEA Inferred from Electronic Annotation more info
involved_in inclusion body assembly	IEA Inferred from Electronic Annotation more info
involved_in iodide transport	IEA Inferred from Electronic Annotation more info
involved_in lysosomal protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
involved_in maintenance of location	IEA Inferred from Electronic Annotation more info
involved_in microglia differentiation	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in motor behavior	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron development	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IEA Inferred from Electronic Annotation more info
involved_in reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of autophagy	IEA Inferred from Electronic Annotation more info
involved_in regulation of lysosomal protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: major facilitator superfamily domain-containing protein 8

Names: ceroid-lipofuscinosis, neuronal 7, late infantile

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008657.1 RefSeqGene

Range

5022..53180

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_833

mRNA and Protein(s)

NM_001363520.3 → NP_001350449.1 major facilitator superfamily domain-containing protein 8 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks two consecutive alternate exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC099340

Consensus CDS

CCDS87259.1

UniProtKB/TrEMBL

A0A286YEW8, A0A286YFI9

Related

ENSP00000492966.1, ENST00000641690.1

Conserved Domains (1) summary

cd06174
Location:39 → 436

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
NM_001363521.3 → NP_001350450.1 major facilitator superfamily domain-containing protein 8 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks three consecutive alternate exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC099340

Consensus CDS

CCDS87255.1

UniProtKB/TrEMBL

A0A286YFF1, A0A286YFI9

Related

ENSP00000493459.1, ENST00000641509.1

Conserved Domains (1) summary

cd06174
Location:39 → 398

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
NM_001371590.2 → NP_001358519.1 major facilitator superfamily domain-containing protein 8 isoform 4

Status: REVIEWED

Source sequence(s)

AC099340

Consensus CDS

CCDS93626.1

UniProtKB/TrEMBL

A0A286YF45, B7Z2P8

Related

ENSP00000492989.1, ENST00000641178.1

Conserved Domains (1) summary

cd17326
Location:1 → 462

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
NM_001371591.2 → NP_001358520.1 major facilitator superfamily domain-containing protein 8 isoform 5

Status: REVIEWED

Source sequence(s)

AC099340

UniProtKB/TrEMBL

B7Z2P8

Related

ENSP00000493260.1, ENST00000642042.1

Conserved Domains (1) summary

cd17326
Location:39 → 510

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
NM_001371592.2 → NP_001358521.1 major facilitator superfamily domain-containing protein 8 isoform 6

Status: REVIEWED

Source sequence(s)

AC099340

UniProtKB/TrEMBL

B7Z2P8

Conserved Domains (1) summary

cd17326
Location:39 → 509

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
NM_001371593.2 → NP_001358522.1 major facilitator superfamily domain-containing protein 8 isoform 7

Status: REVIEWED

Source sequence(s)

AC099340

Consensus CDS

CCDS93628.1

UniProtKB/TrEMBL

A0A286YFI8, A0A286YFI9

Related

ENSP00000493347.1, ENST00000641186.1

Conserved Domains (1) summary

cd17326
Location:39 → 469

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
NM_001371594.2 → NP_001358523.1 major facilitator superfamily domain-containing protein 8 isoform 8

Status: REVIEWED

Source sequence(s)

AC099340

UniProtKB/TrEMBL

A0A286YFI9

Conserved Domains (1) summary

cd17326
Location:39 → 458

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
NM_001371595.1 → NP_001358524.1 major facilitator superfamily domain-containing protein 8 isoform 9

Status: REVIEWED

Source sequence(s)

AC099340

Consensus CDS

CCDS93623.1

UniProtKB/TrEMBL

B7Z2P8, E7ERQ4

Related

ENSP00000425000.2, ENST00000513559.6

Conserved Domains (1) summary

cd17326
Location:1 → 413

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
NM_001371596.2 → NP_001358525.1 major facilitator superfamily domain-containing protein 8 isoform 1

Status: REVIEWED

Source sequence(s)

AC099340

Consensus CDS

CCDS3736.1

UniProtKB/Swiss-Prot

B2RDM1, B7Z205, Q8N2P3, Q8NHS3

UniProtKB/TrEMBL

B7Z2P8

Related

ENSP00000493218.2, ENST00000641686.2

Conserved Domains (1) summary

cd17326
Location:39 → 507

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
NM_001410765.1 → NP_001397694.1 major facilitator superfamily domain-containing protein 8 isoform 10

Status: REVIEWED

Source sequence(s)

AC099340

Consensus CDS

CCDS93622.1

UniProtKB/TrEMBL

A0A286YFB5

Related

ENSP00000493133.1, ENST00000641147.1
NM_001410766.1 → NP_001397695.1 major facilitator superfamily domain-containing protein 8 isoform 11

Status: REVIEWED

Source sequence(s)

AC099340

Consensus CDS

CCDS93627.1

UniProtKB/TrEMBL

A0A286YF72

Related

ENSP00000493132.1, ENST00000641590.1
NM_152778.4 → NP_689991.1 major facilitator superfamily domain-containing protein 8 isoform 1

See identical proteins and their annotated locations for NP_689991.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript.

Source sequence(s)

AA242881, BC029503, BI553701, BQ015234, CB956202, CN310788, CX873070, DA481070

Consensus CDS

CCDS3736.1

UniProtKB/Swiss-Prot

B2RDM1, B7Z205, Q8N2P3, Q8NHS3

UniProtKB/TrEMBL

B7Z2P8

Related

ENSP00000296468.3, ENST00000296468.8

Conserved Domains (1) summary

cd17326
Location:39 → 507

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

127917732..127965963 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024453982.2 → XP_024309750.1 major facilitator superfamily domain-containing protein 8 isoform X1

UniProtKB/TrEMBL

A0A286YFI9

Conserved Domains (1) summary

cd06174
Location:1 → 420

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
XM_047449993.1 → XP_047305949.1 major facilitator superfamily domain-containing protein 8 isoform X3
XM_047449992.1 → XP_047305948.1 major facilitator superfamily domain-containing protein 8 isoform X2

UniProtKB/TrEMBL

E7ERQ4

Conserved Domains (1) summary

cd17326
Location:1 → 413

MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
XM_047449998.1 → XP_047305954.1 major facilitator superfamily domain-containing protein 8 isoform X9
XM_047449995.1 → XP_047305951.1 major facilitator superfamily domain-containing protein 8 isoform X7

UniProtKB/TrEMBL

A0A286YEX1

Related

ENSP00000493056.1, ENST00000515130.6
XM_017007989.2 → XP_016863478.1 major facilitator superfamily domain-containing protein 8 isoform X6

UniProtKB/TrEMBL

A0A286YFK4, A0A286YFM2

Related

ENSP00000493194.1, ENST00000641228.1
XM_047449994.1 → XP_047305950.1 major facilitator superfamily domain-containing protein 8 isoform X5
XM_005262898.4 → XP_005262955.1 major facilitator superfamily domain-containing protein 8 isoform X4

UniProtKB/TrEMBL

A0A286YF73, B7Z280

Related

ENSP00000493277.1, ENST00000641482.1

Conserved Domains (2) summary

cd06174
Location:39 → 186

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:42 → 186

MFS_1; Major Facilitator Superfamily
XM_047449999.1 → XP_047305955.1 major facilitator superfamily domain-containing protein 8 isoform X10

UniProtKB/TrEMBL

B7Z2B2

Related

ENSP00000492925.1, ENST00000641134.1
XM_047449997.1 → XP_047305953.1 major facilitator superfamily domain-containing protein 8 isoform X8

UniProtKB/TrEMBL

A0A286YFC6

Related

ENSP00000493083.1, ENST00000641243.1

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

131220758..131270005 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349563.1 → XP_054205538.1 major facilitator superfamily domain-containing protein 8 isoform X1
XM_054349565.1 → XP_054205540.1 major facilitator superfamily domain-containing protein 8 isoform X3
XM_054349564.1 → XP_054205539.1 major facilitator superfamily domain-containing protein 8 isoform X2

UniProtKB/TrEMBL

E7ERQ4
XM_054349571.1 → XP_054205546.1 major facilitator superfamily domain-containing protein 8 isoform X9
XM_054349569.1 → XP_054205544.1 major facilitator superfamily domain-containing protein 8 isoform X7

UniProtKB/TrEMBL

A0A286YEX1
XM_054349568.1 → XP_054205543.1 major facilitator superfamily domain-containing protein 8 isoform X6

UniProtKB/TrEMBL

A0A286YFM2
XM_054349567.1 → XP_054205542.1 major facilitator superfamily domain-containing protein 8 isoform X5
XM_054349566.1 → XP_054205541.1 major facilitator superfamily domain-containing protein 8 isoform X4

UniProtKB/TrEMBL

A0A286YF73
XM_054349572.1 → XP_054205547.1 major facilitator superfamily domain-containing protein 8 isoform X10

UniProtKB/TrEMBL

B7Z2B2
XM_054349570.1 → XP_054205545.1 major facilitator superfamily domain-containing protein 8 isoform X8

UniProtKB/TrEMBL

A0A286YFC6