Free for academic non-profit institutions. Other users need a Commercial license

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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G086530 1.1 ENCODE dbSUPER 46.5 +24.0 23969 1.3 CTCF ATF1 MXI1 SAP130 SUZ12 ZSCAN9 ZNF48 RAD21 FOXM1 ZFHX2 MTHFSD ENSG00000270020 FOXC2 GC16M086531 PIR36172 PIR44709
GH16G086491 1.5 FANTOM5 ENCODE dbSUPER 28.2 +50.1 50104 27.5 ARID4B SIN3A FEZF1 ZNF2 ZNF48 GLIS2 ZNF416 ZNF207 ZNF143 FOS MTHFSD FOXF1 LINC00917 FOXC2 ZCCHC14 FENDRR ENSG00000270020 LOC401864
GH16G086519 1.3 Ensembl ENCODE dbSUPER 23.8 +35.1 35104 0.8 RB1 SREBF2 ZNF2 RAD21 GLIS2 ZNF143 RELB ZNF654 SP3 SMAD5 MTHFSD LINC00917 FOXC2 FOXF1 ENSG00000270020
GH16G086554 1.1 ENCODE 24.5 -0.2 -160 2.3 HDGF ARID4B SIN3A DMAP1 YBX1 ZBTB7B YY1 SLC30A9 ZNF207 ZNF143 MTHFSD ENSG00000270184 RN7SL381P RNU1-103P LOC101928659 ENSG00000270020 FOXL1 FLJ30679 PIR58170
GH16G086563 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -18.0 -17981 20.2 PKNOX1 ARNT ARID4B ZNF2 YY1 ZNF207 ZNF143 FOS DEK ZNF263 MTHFSD FOXC2-AS1 ENSG00000270020 FOXC2 FOXL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000089178 135 1001 HDGF ARID4B SIN3A DMAP1 YBX1 ZBTB7B YY1 SLC30A9 ZNF207 ZNF143

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

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

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

No data available for UniProtKB/Swiss-Prot for MTHFSD Gene

Function for MTHFSD Gene

Gene Ontology (GO) - Molecular Function for MTHFSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,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

CRISPR Products

Inhibitory RNA 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
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 MTHFSD gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MTHFSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with MTHFSD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MTHFSD Gene

Pathways & Interactions for MTHFSD Gene

SuperPathways for MTHFSD Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTHFSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008298 intracellular mRNA localization IBA --
genes like me logo Genes that share ontologies with MTHFSD: view

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

Transcripts for MTHFSD Gene

Unigene Clusters for MTHFSD Gene

Methenyltetrahydrofolate synthetase domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
MTHFSD
ECgene alternative splicing isoforms for
MTHFSD

Expression for MTHFSD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MTHFSD Gene



NURSA nuclear receptor signaling pathways regulating expression of MTHFSD Gene:

MTHFSD

SOURCE GeneReport for Unigene cluster for MTHFSD Gene:

Hs.343627

Evidence on tissue expression from TISSUES for MTHFSD Gene

  • Nervous system(4.3)
  • Thyroid gland(4.2)
genes like me logo Genes that share expression patterns with MTHFSD: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MTHFSD 35 34
  • 93.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTHFSD 35 34
  • 81.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTHFSD 35 34
  • 78.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mthfsd 34
  • 75.39 (n)
mouse
(Mus musculus)
Mammalia Mthfsd 35 16 34
  • 74.66 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTHFSD 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFSD 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTHFSD 35 34
  • 61.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTHFSD 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfsd 34
  • 62.66 (n)
Str.4544 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7826 34
zebrafish
(Danio rerio)
Actinopterygii mthfsd 35 34
  • 57.44 (n)
OneToOne
wufc43c12 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000622 34
  • 49.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta lost 34 35
  • 44.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76730 34
  • 52.07 (n)
rice
(Oryza sativa)
Liliopsida Os12g0168000 34
  • 49.67 (n)
Species where no ortholog for MTHFSD was found in the sources mined by GeneCards:
  • 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
rs1000030343 -- 86,551,937(+) ACTTT(C/T)TAAAT intron-variant
rs1000361324 -- 86,547,308(+) ATATG(G/T)TCATG intron-variant
rs1000388796 -- 86,530,345(+) TTCCC(C/G/T)GAGTA nc-transcript-variant, utr-variant-3-prime
rs1000417582 -- 86,534,949(+) CCATC(C/T)GTGTC intron-variant, utr-variant-3-prime
rs1000566624 -- 86,545,718(+) CGTCA(A/C)GTCCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv498n67 CNV gain 20364138
dgv870e212 CNV loss 25503493
esv4262 OTHER complex 18987735
nsv1059266 CNV loss 25217958
nsv1065605 CNV gain 25217958
nsv483044 CNV gain 15286789
nsv525024 CNV loss 19592680

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64

Products for MTHFSD Gene

Sources for MTHFSD Gene

Content
Loading form....