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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. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding.

Additional gene information for MTHFSD Gene

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

GeneHancer (GH) Regulatory Elements for MTHFSD Gene

Promoters and enhancers for MTHFSD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I086554 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 574.5 -0.2 -159 2.3 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 POLR2B E2F8 ZNF143 SP3 MTHFSD FLJ30679 PIR58170 PIR60279 ENSG00000270020 FOXL1
GH16I086553 Enhancer 0.9 FANTOM5 ENCODE 550.8 +1.3 1263 0.5 MEIS2 NFATC3 ASH1L CC2D1A POLR2B ZNF316 POLR2A NFYB FOS SP3 MTHFSD FLJ30679 PIR36172 GC16M086531
GH16I085565 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 126.8 +986.1 986076 7.5 HDGF PKNOX1 CLOCK SMAD1 ARNT NEUROD1 SIN3A FEZF1 YBX1 ZNF2 ENSG00000270184 MTHFSD RNU1-103P KLHL36 RN7SL381P ZDHHC7 ENSG00000260859 CRISPLD2 EMC8 GSE1
GH16I087390 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 46.6 -837.5 -837476 4 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 FBXO31 MAP1LC3B MTHFSD BANP KLHDC4 ZCCHC14 ENSG00000261592
GH16I085609 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 35.7 +940.7 940658 9.6 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 GSE1 ENSG00000270184 MTHFSD RNU1-103P RN7SL381P KLHL36 ZDHHC7 GC16P085626 ENSG00000260417
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTHFSD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTHFSD gene promoter:

Genomic Locations for MTHFSD Gene

Genomic Locations for MTHFSD Gene
chr16:86,530,176-86,555,235
(GRCh38/hg38)
Size:
25,060 bases
Orientation:
Minus strand
chr16:86,563,782-86,588,841
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog for MTHFSD Gene

Gene Ontology (GO) - Molecular Function for MTHFSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

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

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:

Clone 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

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 33 34
  • 93.54 (n)
dog
(Canis familiaris)
Mammalia MTHFSD 33 34
  • 81.25 (n)
cow
(Bos Taurus)
Mammalia MTHFSD 33 34
  • 78.99 (n)
rat
(Rattus norvegicus)
Mammalia Mthfsd 33
  • 75.39 (n)
mouse
(Mus musculus)
Mammalia Mthfsd 33 16 34
  • 74.66 (n)
oppossum
(Monodelphis domestica)
Mammalia MTHFSD 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFSD 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTHFSD 33 34
  • 61.65 (n)
lizard
(Anolis carolinensis)
Reptilia MTHFSD 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfsd 33
  • 62.66 (n)
Str.4544 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7826 33
zebrafish
(Danio rerio)
Actinopterygii mthfsd 33 34
  • 57.44 (n)
wufc43c12 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000622 33
  • 49.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta lost 33 34
  • 44.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76730 33
  • 52.07 (n)
rice
(Oryza sativa)
Liliopsida Os12g0168000 33
  • 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 Variation AA Info Type
rs1000030343 -- 86,551,937(-) C/T intron_variant
rs1000361324 -- 86,547,308(-) T/G intron_variant
rs1000388796 -- 86,530,345(-) C/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000417582 -- 86,534,949(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000566624 -- 86,545,718(-) C/A 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)

Additional Variant Information 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

Additional Disease Information for MTHFSD

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

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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 58

Products for MTHFSD Gene

Sources for MTHFSD Gene

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