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Aliases for MTHFSD Gene

Aliases for MTHFSD Gene

  • Methenyltetrahydrofolate Synthetase Domain Containing 2 3 5

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. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

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

Enhancers for MTHFSD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MTHFSD on UCSC Golden Path with GeneCards custom track

Promoters for MTHFSD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTHFSD on UCSC Golden Path with GeneCards custom track

Genomic Location for MTHFSD Gene

Chromosome:
16
Start:
86,530,176 bp from pter
End:
86,555,235 bp from pter
Size:
25,060 bases
Orientation:
Minus strand

Genomic View for MTHFSD Gene

Genes around MTHFSD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTHFSD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q2M296-MTHSD_HUMAN
    Recommended name:
    Methenyltetrahydrofolate synthase domain-containing protein
    Protein Accession:
    Q2M296
    Secondary Accessions:
    • A8MQ77
    • B7ZLC0
    • B7ZLC2
    • D3DUM9
    • E9PAM1
    • Q9H878
    • Q9H954

    Protein attributes for MTHFSD Gene

    Size:
    383 amino acids
    Molecular mass:
    42173 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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 & Families for MTHFSD Gene

Gene Families for MTHFSD Gene

Suggested Antigen Peptide Sequences for MTHFSD Gene

Graphical View of Domain Structure for InterPro Entry

Q2M296

UniProtKB/Swiss-Prot:

MTHSD_HUMAN :
  • Contains 1 RRM (RNA recognition motif) domain.
Domain:
  • 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:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with MTHFSD: view
genes like me logo Genes that share phenotypes with MTHFSD: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MTHFSD

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for MTHFSD Gene

Subcellular locations from

COMPARTMENTS
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 & Interactions for MTHFSD Gene

SuperPathways for MTHFSD Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTHFSD Gene

None

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

Drugs & Compounds for MTHFSD Gene

No Compound Related Data Available

Transcripts for MTHFSD Gene

Unigene Clusters for MTHFSD Gene

Methenyltetrahydrofolate synthetase domain containing:
Representative Sequences:

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
MTHFSD
ECgene alternative splicing isoforms for
MTHFSD

Expression for MTHFSD Gene

mRNA expression in normal human tissues for MTHFSD Gene

Protein differential expression in normal tissues from HIPED for MTHFSD Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MTHFSD: view

Primer Products

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 Protein tissue co-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
cow
(Bos Taurus)
Mammalia MTHFSD 35
  • 78.99 (n)
  • 74.79 (a)
MTHFSD 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTHFSD 35
  • 81.25 (n)
  • 79.02 (a)
MTHFSD 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mthfsd 35
  • 74.66 (n)
  • 72.78 (a)
Mthfsd 16
Mthfsd 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTHFSD 35
  • 93.54 (n)
  • 91.1 (a)
MTHFSD 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mthfsd 35
  • 75.39 (n)
  • 74.41 (a)
oppossum
(Monodelphis domestica)
Mammalia MTHFSD 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFSD 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTHFSD 35
  • 61.65 (n)
  • 61.74 (a)
MTHFSD 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTHFSD 36
  • 61 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii mthfsd 35
  • 57.44 (n)
  • 54.03 (a)
wufc43c12 35
mthfsd 36
  • 51 (a)
OneToOne
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)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76730 35
  • 52.07 (n)
  • 50.2 (a)
rice
(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

ENSEMBL:
Gene Tree for MTHFSD (if available)
TreeFam:
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
rs34005514 - 86,552,137(-) CTTAT(C/G)TGGCT intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs3751802 - 86,532,276(-) TGGCT(C/G)CCCAC nc-transcript-variant, reference, missense
rs3751803 - 86,532,220(-) TCCCC(C/G/T)GGGAC nc-transcript-variant, reference, missense
rs3751800 - 86,532,436(-) GCCTC(C/T)GCGCC nc-transcript-variant, reference, missense
rs3751801 - 86,532,433(-) TCCGC(A/C/G)CCCGA nc-transcript-variant, reference, missense

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

Variation tolerance for MTHFSD Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.25; 90.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTHFSD Gene

HapMap Linkage Disequilibrium report
MTHFSD

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

Disorders for MTHFSD Gene

Relevant External Links for MTHFSD

Genetic Association Database (GAD)
MTHFSD
Human Genome Epidemiology (HuGE) Navigator
MTHFSD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTHFSD

No disorders were found for MTHFSD Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTHFSD Gene

Publications for MTHFSD Gene

  1. 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 67
  2. 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
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  5. The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts. (PMID: 22681889) Baltz A.G. … Landthaler M. (Mol. Cell 2012) 3

Products for MTHFSD Gene

Sources for MTHFSD Gene

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