Aliases for SLC49A3 Gene

Aliases for SLC49A3 Gene

  • Solute Carrier Family 49 Member 3 2 3 5
  • Major Facilitator Superfamily Domain-Containing Protein 7 3 4
  • Major Facilitator Superfamily Domain Containing 7 2 3
  • Myosin Light Polypeptide 5 Regulatory Protein 3 4
  • Solute Carrier Family 49 Member A3 3 4
  • MFSD7 3 4
  • MYL5 3 4
  • LP2561 3

External Ids for SLC49A3 Gene

Previous HGNC Symbols for SLC49A3 Gene

  • MFSD7

Summaries for SLC49A3 Gene

GeneCards Summary for SLC49A3 Gene

SLC49A3 (Solute Carrier Family 49 Member 3) is a Protein Coding gene. Diseases associated with SLC49A3 include Hydranencephaly. An important paralog of this gene is FLVCR1.

Additional gene information for SLC49A3 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC49A3 Gene

Genomics for SLC49A3 Gene

GeneHancer (GH) Regulatory Elements for SLC49A3 Gene

Promoters and enhancers for SLC49A3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC49A3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC49A3

Genomic Locations for SLC49A3 Gene

Genomic Locations for SLC49A3 Gene
14,779 bases
Minus strand
7,613 bases
Minus strand

Genomic View for SLC49A3 Gene

Genes around SLC49A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC49A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC49A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC49A3 Gene

Proteins for SLC49A3 Gene

  • Protein details for SLC49A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Solute carrier family 49 member A3
    Protein Accession:
    Secondary Accessions:
    • A8K7J5
    • Q6XYD4
    • Q8N6H1
    • Q9H6H6

    Protein attributes for SLC49A3 Gene

    560 amino acids
    Molecular mass:
    58427 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAP34459.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC49A3 Gene


neXtProt entry for SLC49A3 Gene

Post-translational modifications for SLC49A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC49A3 Gene

Domains & Families for SLC49A3 Gene

Gene Families for SLC49A3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SLC49A3 Gene


Suggested Antigen Peptide Sequences for SLC49A3 Gene

GenScript: Design optimal peptide antigens:
  • Major facilitator superfamily domain containing 7, isoform CRA_a (D3DVN0_HUMAN)
  • Myosin light polypeptide 5 regulatory protein (MFSD7_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the major facilitator superfamily.
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with SLC49A3: view

Function for SLC49A3 Gene

Phenotypes From GWAS Catalog for SLC49A3 Gene

genes like me logo Genes that share phenotypes with SLC49A3: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC49A3 Gene

Localization for SLC49A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC49A3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC49A3 gene
Compartment Confidence
plasma membrane 4
extracellular 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC49A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC49A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC49A3 Gene

Pathways & Interactions for SLC49A3 Gene

PathCards logo

SuperPathways for SLC49A3 Gene

No Data Available

Interacting Proteins for SLC49A3 Gene


Gene Ontology (GO) - Biological Process for SLC49A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC49A3: view

No data available for Pathways by source and SIGNOR curated interactions for SLC49A3 Gene

Drugs & Compounds for SLC49A3 Gene

No Compound Related Data Available

Transcripts for SLC49A3 Gene

mRNA/cDNA for SLC49A3 Gene

6 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC49A3 Gene

No ASD Table

Relevant External Links for SLC49A3 Gene

GeneLoc Exon Structure for

Expression for SLC49A3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC49A3

Evidence on tissue expression from TISSUES for SLC49A3 Gene

  • Spleen(4.1)
  • Blood(4)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC49A3 Gene

Orthologs for SLC49A3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC49A3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MFSD7 31 30
  • 93.02 (n)
(Rattus norvegicus)
Mammalia Mfsd7 30
  • 80.4 (n)
(Bos Taurus)
Mammalia MFSD7 31 30
  • 79.35 (n)
(Canis familiaris)
Mammalia MFSD7 31 30
  • 77.43 (n)
(Mus musculus)
Mammalia Mfsd7a 17 31 30
  • 76.18 (n)
(Monodelphis domestica)
Mammalia MFSD7 31
  • 58 (a)
(Ornithorhynchus anatinus)
Mammalia MFSD7 31
  • 58 (a)
(Gallus gallus)
Aves MFSD7 31 30
  • 63.39 (n)
(Anolis carolinensis)
Reptilia MFSD7 31
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd7 30
  • 56.58 (n)
MGC75569 30
(Caenorhabditis elegans)
Secernentea B0416.5 31 30
  • 47.42 (n)
C05G5.1 31
  • 30 (a)
C42C1.8 31
  • 24 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05990 30
  • 46.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
-- 31
  • 33 (a)
-- 31
  • 31 (a)
Species where no ortholog for SLC49A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SLC49A3 Gene

Gene Tree for SLC49A3 (if available)
Gene Tree for SLC49A3 (if available)
Evolutionary constrained regions (ECRs) for SLC49A3: view image

Paralogs for SLC49A3 Gene

Paralogs for SLC49A3 Gene

genes like me logo Genes that share paralogs with SLC49A3: view

Variants for SLC49A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC49A3 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs11558585 - p.Ser170Pro

Additional dbSNP identifiers (rs#s) for SLC49A3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC49A3 Gene

Variant ID Type Subtype PubMed ID
esv2759217 CNV loss 17122850
nsv10413 CNV gain 18304495
nsv508986 CNV insertion 20534489
nsv593206 CNV loss 21841781
nsv593208 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv829834 CNV loss 17160897
nsv950325 CNV deletion 24416366

Variation tolerance for SLC49A3 Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC49A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC49A3 Gene

Disorders for SLC49A3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC49A3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
  • hydroanencephaly
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC49A3

genes like me logo Genes that share disorders with SLC49A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC49A3 Gene

Publications for SLC49A3 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 54
  2. Heme and FLVCR-related transporter families SLC48 and SLC49. (PMID: 23506900) Khan AA … Quigley JG (Molecular aspects of medicine 2013) 2 3 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 54

Products for SLC49A3 Gene

Sources for SLC49A3 Gene