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Aliases for MTHFSD Gene

Aliases for MTHFSD Gene

  • Methenyltetrahydrofolate Synthetase Domain Containing 2 3

External Ids for MTHFSD Gene

Previous GeneCards Identifiers for MTHFSD Gene

  • GC16M085123
  • GC16M086563
  • GC16M072303

Summaries for MTHFSD Gene

GeneCards Summary for MTHFSD Gene

MTHFSD (Methenyltetrahydrofolate Synthetase Domain Containing) is a Protein Coding gene. Diseases associated with MTHFSD include vacterl association. GO annotations related to this gene include RNA binding and 5-formyltetrahydrofolate cyclo-ligase activity.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTHFSD Gene

Genomics for MTHFSD Gene

Regulatory Elements for MTHFSD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MTHFSD Gene

86,530,176 bp from pter
86,555,235 bp from pter
25,060 bases
Minus strand

Genomic View for MTHFSD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTHFSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFSD Gene

Proteins for MTHFSD Gene

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

    Protein Symbol:
    Recommended name:
    Methenyltetrahydrofolate synthase domain-containing protein
    Protein Accession:
    Secondary Accessions:
    • A8MQ77
    • B7ZLC0
    • B7ZLC2
    • D3DUM9
    • E9PAM1
    • Q9H878
    • Q9H954

    Protein attributes for MTHFSD Gene

    383 amino acids
    Molecular mass:
    42173 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB14383.1; Type=Frameshift; Positions=356; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTHFSD Gene

    Alternative splice isoforms for MTHFSD Gene


neXtProt entry for MTHFSD Gene

Proteomics data for MTHFSD Gene at MOPED

Post-translational modifications for MTHFSD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTHFSD Gene

Domains for MTHFSD Gene

Gene Families for MTHFSD Gene

  • RBM :RNA binding motif (RRM) containing

Suggested Antigen Peptide Sequences for MTHFSD Gene

Graphical View of Domain Structure for InterPro Entry



  • Q2M296
  • Contains 1 RRM (RNA recognition motif) domain.
genes like me logo Genes that share domains with MTHFSD: view

Function for MTHFSD Gene

Gene Ontology (GO) - Molecular Function for MTHFSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with MTHFSD: view

Phenotypes for MTHFSD Gene

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

Animal Model Products

miRNA for MTHFSD Gene

miRTarBase miRNAs that target MTHFSD

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTHFSD

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MTHFSD Gene

Localization for MTHFSD Gene

Subcellular locations from

Jensen Localization Image for MTHFSD Gene COMPARTMENTS Subcellular localization image for MTHFSD gene
Compartment Confidence
cytosol 2
nucleus 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MTHFSD Gene

Pathways for MTHFSD Gene

SuperPathways for MTHFSD Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTHFSD Gene


No data available for Pathways by source for MTHFSD Gene

Transcripts for MTHFSD Gene

Unigene Clusters for MTHFSD Gene

Methenyltetrahydrofolate synthetase domain containing:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTHFSD

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - -
SP9: -

Relevant External Links for MTHFSD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTHFSD Gene

mRNA expression in normal human tissues for MTHFSD Gene

Protein differential expression in normal tissues for MTHFSD Gene

This gene is overexpressed in Platelet (30.0) and Liver (21.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTHFSD Gene

SOURCE GeneReport for Unigene cluster for MTHFSD Gene Hs.343627

genes like me logo Genes that share expressions with MTHFSD: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners for MTHFSD Gene

Orthologs for MTHFSD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFSD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MTHFSD 35
  • 78.99 (n)
  • 74.79 (a)
  • 69 (a)
(Canis familiaris)
Mammalia MTHFSD 35
  • 81.25 (n)
  • 79.02 (a)
  • 79 (a)
(Mus musculus)
Mammalia Mthfsd 35
  • 74.66 (n)
  • 72.78 (a)
Mthfsd 16
Mthfsd 36
  • 71 (a)
(Pan troglodytes)
Mammalia MTHFSD 35
  • 93.54 (n)
  • 91.1 (a)
  • 98 (a)
(Rattus norvegicus)
Mammalia Mthfsd 35
  • 75.39 (n)
  • 74.41 (a)
(Monodelphis domestica)
Mammalia MTHFSD 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia MTHFSD 36
  • 66 (a)
(Gallus gallus)
Aves MTHFSD 35
  • 61.65 (n)
  • 61.74 (a)
  • 58 (a)
(Anolis carolinensis)
Reptilia MTHFSD 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfsd 35
  • 62.66 (n)
  • 63.64 (a)
Str.4544 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7826 35
(Danio rerio)
Actinopterygii mthfsd 35
  • 57.44 (n)
  • 54.03 (a)
wufc43c12 35
mthfsd 36
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000622 35
  • 49.84 (n)
  • 38.1 (a)
fruit fly
(Drosophila melanogaster)
Insecta lost 35
  • 44.28 (n)
  • 32.84 (a)
lost 36
  • 21 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76730 35
  • 52.07 (n)
  • 50.2 (a)
(Oryza sativa)
Liliopsida Os12g0168000 35
  • 49.67 (n)
  • 47.04 (a)
Species with no ortholog for MTHFSD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTHFSD Gene

Gene Tree for MTHFSD (if available)
Gene Tree for MTHFSD (if available)

Paralogs for MTHFSD Gene

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

No data available for Paralogs for MTHFSD Gene

Variants for MTHFSD Gene

Sequence variations from dbSNP and Humsavar for MTHFSD Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs8776 -- 86,530,288(-) TATAT(A/G)GATAT utr-variant-3-prime, nc-transcript-variant
rs1019548 -- 86,543,651(-) ACACA(C/T)AGAGC intron-variant
rs1019549 -- 86,543,576(-) GGGCC(C/T)GTGTT intron-variant
rs1025057 -- 86,541,120(+) AGAGA(C/G)AGCAT intron-variant
rs1046200 -- 86,531,065(-) GTGTT(A/C)TTTGA utr-variant-3-prime, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
esv4262 CNV Complex 18987735
nsv525024 CNV Loss 19592680
dgv498n67 CNV Gain 20364138
nsv907132 CNV Loss 21882294
dgv2947n71 CNV Loss 21882294
nsv907137 CNV Loss 21882294

Relevant External Links for MTHFSD Gene

HapMap Linkage Disequilibrium report

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

Disorders for MTHFSD Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for MTHFSD Gene in MalaCards »

(1) Diseases for MTHFSD Gene including...

(2) University of Copenhagen DISEASES for MTHFSD Gene

Relevant External Links for MTHFSD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MTHFSD: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for MTHFSD Gene

Publications for MTHFSD Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3

Products for MTHFSD Gene

Sources for MTHFSD Gene

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