Aliases for MTHFSD Gene

Aliases for MTHFSD Gene

  • Methenyltetrahydrofolate Synthetase Domain Containing 2 3 5
  • Methenyltetrahydrofolate Synthase Domain-Containing Protein 3 4
  • Methenyltetrahydrofolate Synthetase Domain-Containing Protein 3
  • FLJ12998 2
  • MTHFSD 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. Diseases associated with MTHFSD include Pancreas, Annular and Anus, Imperforate. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTHFSD Gene

Genomics for MTHFSD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTHFSD 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 MTHFSD on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the MTHFSD gene promoter:
  • C/EBPalpha
  • MyoD
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MTHFSD Gene

Genomic Locations for MTHFSD Gene
chr16:86,530,178-86,555,840
(GRCh38/hg38)
Size:
25,663 bases
Orientation:
Minus strand
chr16:86,563,782-86,588,841
(GRCh37/hg19)
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; 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

Protein Domains for MTHFSD Gene

Suggested Antigen Peptide Sequences for MTHFSD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ39517 fis, clone PUAEN2000394 (B3KUB0_HUMAN)
  • MTHFSD protein (B7ZLC2_HUMAN)
  • Methenyltetrahydrofolate synthase domain-containing protein (MTHSD_HUMAN)
genes like me logo Genes that share domains with MTHFSD: view

No data available for Graphical View of Domain Structure and 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:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (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 21873635
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

PathCards logo

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

mRNA/cDNA for MTHFSD Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTHFSD

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

Expression for MTHFSD Gene

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



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

SOURCE GeneReport for Unigene cluster for MTHFSD Gene:

Hs.343627

Evidence on tissue expression from TISSUES for MTHFSD Gene

  • Nervous system(4.4)
  • 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 30 31
  • 93.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTHFSD 30 31
  • 81.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTHFSD 30 31
  • 78.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mthfsd 30
  • 75.39 (n)
Mouse
(Mus musculus)
Mammalia Mthfsd 30 17 31
  • 74.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTHFSD 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTHFSD 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTHFSD 30 31
  • 61.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTHFSD 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mthfsd 30
  • 62.66 (n)
Str.4544 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7826 30
Zebrafish
(Danio rerio)
Actinopterygii mthfsd 30 31
  • 57.44 (n)
OneToOne
wufc43c12 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000622 30
  • 49.84 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta lost 30 31
  • 44.28 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G76730 30
  • 52.07 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0168000 30
  • 49.67 (n)
Species where no ortholog for MTHFSD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MTHFSD: view image

Paralogs for MTHFSD Gene

(1) SIMAP similar genes for MTHFSD Gene using alignment to 13 proteins:

  • MTHSD_HUMAN
  • F5H0M7_HUMAN
  • H3BML0_HUMAN
  • H3BMX6_HUMAN
  • H3BNE5_HUMAN
  • H3BP93_HUMAN
  • H3BPD2_HUMAN
  • H3BQU0_HUMAN
  • H3BSB5_HUMAN
  • H3BSD1_HUMAN
  • H3BSW8_HUMAN
  • H3BUU0_HUMAN
  • H3BVG2_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTHFSD Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs34005514 - p.Leu45Val
rs3751800 - p.Arg243Cys
rs3751801 - p.Ala244Thr
rs3751802 - p.Ser296Cys
rs3751803 - p.Gly315Arg

Additional dbSNP identifiers (rs#s) for MTHFSD Gene

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

MalaCards: The human disease database

(9) MalaCards diseases for MTHFSD Gene - From: DISEASES

Disorder Aliases PubMed IDs
pancreas, annular
  • annular pancreas
anus, imperforate
  • imperforate anus
feingold syndrome 1
  • fglds1
pallister-hall syndrome
  • phs
vacterl association
  • vater syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTHFSD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MTHFSD: view

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

Publications for MTHFSD Gene

  1. MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis. (PMID: 26525917) MacNair L … Robertson J (Brain : a journal of neurology 2016) 2 3
  2. 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 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3

Products for MTHFSD Gene

Sources for MTHFSD Gene