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Aliases for MTHFD2L Gene

Aliases for MTHFD2L Gene

  • Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2-Like 2 3 5
  • NADP-Dependent Methylenetetrahydrofolate Dehydrogenase 2-Like Protein 3 4
  • MTHFD2-Like 3 4

External Ids for MTHFD2L Gene

Previous GeneCards Identifiers for MTHFD2L Gene

  • GC04P075358
  • GC04P075207
  • GC04P074979
  • GC04P070834

Summaries for MTHFD2L Gene

GeneCards Summary for MTHFD2L Gene

MTHFD2L (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2-Like) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include formate-tetrahydrofolate ligase activity and methylenetetrahydrofolate dehydrogenase (NADP+) activity. An important paralog of this gene is MTHFD2.

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 MTHFD2L Gene

Genomics for MTHFD2L Gene

Regulatory Elements for MTHFD2L Gene

Promoters for MTHFD2L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTHFD2L on UCSC Golden Path with GeneCards custom track

Genomic Location for MTHFD2L Gene

Chromosome:
4
Start:
74,114,174 bp from pter
End:
74,303,099 bp from pter
Size:
188,926 bases
Orientation:
Plus strand

Genomic View for MTHFD2L Gene

Genes around MTHFD2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTHFD2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTHFD2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFD2L Gene

Proteins for MTHFD2L Gene

  • Protein details for MTHFD2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H903-MTD2L_HUMAN
    Recommended name:
    Probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2
    Protein Accession:
    Q9H903
    Secondary Accessions:
    • Q6P079
    • Q8N560

    Protein attributes for MTHFD2L Gene

    Size:
    347 amino acids
    Molecular mass:
    37315 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32771.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14441.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for MTHFD2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTHFD2L Gene

Proteomics data for MTHFD2L Gene at MOPED

Post-translational modifications for MTHFD2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTHFD2L Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MTHFD2L

No data available for DME Specific Peptides for MTHFD2L Gene

Domains & Families for MTHFD2L Gene

Suggested Antigen Peptide Sequences for MTHFD2L Gene

Graphical View of Domain Structure for InterPro Entry

Q9H903

UniProtKB/Swiss-Prot:

MTD2L_HUMAN :
  • Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
Family:
  • Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
genes like me logo Genes that share domains with MTHFD2L: view

No data available for Gene Families for MTHFD2L Gene

Function for MTHFD2L Gene

Molecular function for MTHFD2L Gene

UniProtKB/Swiss-Prot CatalyticActivity:
5,10-methylenetetrahydrofolate + NAD(+) = 5,10-methenyltetrahydrofolate + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
5,10-methenyltetrahydrofolate + H(2)O = 10-formyltetrahydrofolate.
genes like me logo Genes that share phenotypes with MTHFD2L: view

Animal Model Products

CRISPR Products

miRNA for MTHFD2L Gene

miRTarBase miRNAs that target MTHFD2L

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTHFD2L Gene

Localization for MTHFD2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTHFD2L Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTHFD2L Gene COMPARTMENTS Subcellular localization image for MTHFD2L gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for MTHFD2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with MTHFD2L: view

Pathways & Interactions for MTHFD2L Gene

genes like me logo Genes that share pathways with MTHFD2L: view

Pathways by source for MTHFD2L Gene

UniProtKB/Swiss-Prot Q9H903-MTD2L_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion.

Interacting Proteins for MTHFD2L Gene

Gene Ontology (GO) - Biological Process for MTHFD2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000105 histidine biosynthetic process IEA --
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0009086 methionine biosynthetic process IEA --
GO:0009256 10-formyltetrahydrofolate metabolic process IEA --
GO:0046655 folic acid metabolic process TAS --
genes like me logo Genes that share ontologies with MTHFD2L: view

No data available for SIGNOR curated interactions for MTHFD2L Gene

Drugs & Compounds for MTHFD2L Gene

(3) Drugs for MTHFD2L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Pharma Full agonist, Agonist 0
Magnesium Nutra 0
NADH Nutra 0

(5) Additional Compounds for MTHFD2L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
2800-34-2
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
7444-29-3
5,10-Methylene-THF
  • (6R)-5,10-methylenetetrahydrofolate
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-Hydrofolate
  • 5,10-Methylene-6-Hydrofolic acid
  • 5,10-Methylene-THF
31690-11-6
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with MTHFD2L: view

Transcripts for MTHFD2L Gene

Unigene Clusters for MTHFD2L Gene

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD2L Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -

Relevant External Links for MTHFD2L Gene

GeneLoc Exon Structure for
MTHFD2L
ECgene alternative splicing isoforms for
MTHFD2L

Expression for MTHFD2L Gene

mRNA expression in normal human tissues for MTHFD2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTHFD2L Gene

This gene is overexpressed in Amniocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MTHFD2L Gene



SOURCE GeneReport for Unigene cluster for MTHFD2L Gene Hs.721011

mRNA Expression by UniProt/SwissProt for MTHFD2L Gene

Q9H903-MTD2L_HUMAN
Tissue specificity: Isoform 1, isoform 4 and isoform 5 are expressed in brain and placenta.
genes like me logo Genes that share expression patterns with MTHFD2L: view

Protein tissue co-expression partners for MTHFD2L Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MTHFD2L Gene

Orthologs for MTHFD2L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTHFD2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTHFD2L 35
  • 99.51 (n)
  • 99.11 (a)
MTHFD2L 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTHFD2L 36
  • 89 (a)
OneToOne
MTHFD2L 35
  • 87.99 (n)
  • 89.34 (a)
dog
(Canis familiaris)
Mammalia LOC482197 35
  • 93.44 (n)
  • 96.67 (a)
MTHFD2L 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mthfd2l 16
Mthfd2l 36
  • 90 (a)
OneToOne
Mthfd2l 35
  • 83.93 (n)
  • 89.94 (a)
oppossum
(Monodelphis domestica)
Mammalia MTHFD2L 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFD2L 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mthfd2l 35
  • 83.43 (n)
  • 88.46 (a)
chicken
(Gallus gallus)
Aves MTHFD2L 35
  • 74.9 (n)
  • 78.35 (a)
MTHFD2L 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTHFD2L 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd2l 35
  • 74.44 (n)
  • 80 (a)
zebrafish
(Danio rerio)
Actinopterygii mthfd2l 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nmdmc 36
  • 52 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 36
  • 13 (a)
OneToMany
MTD1 38
Species with no ortholog for MTHFD2L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTHFD2L Gene

ENSEMBL:
Gene Tree for MTHFD2L (if available)
TreeFam:
Gene Tree for MTHFD2L (if available)

Paralogs for MTHFD2L Gene

Paralogs for MTHFD2L Gene

(4) SIMAP similar genes for MTHFD2L Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for MTHFD2L Gene

genes like me logo Genes that share paralogs with MTHFD2L: view

Variants for MTHFD2L Gene

Sequence variations from dbSNP and Humsavar for MTHFD2L Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs571483 -- 74,112,918(+) CACAC(A/C)AAAAA upstream-variant-2KB
rs572987 -- 74,219,929(-) TCTGC(A/G)TGGAA intron-variant
rs475236 -- 74,208,414(-) ATAGT(C/G)CCAGT intron-variant
rs476893 -- 74,149,916(+) atgga(G/T)attat intron-variant
rs477975 -- 74,194,850(+) tgtcc(C/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTHFD2L Gene

Variant ID Type Subtype PubMed ID
nsv525980 CNV Gain 19592680
esv2662787 CNV Deletion 23128226
nsv437397 CNV Loss 16327808
esv29295 CNV Loss 19812545
esv2421669 CNV Deletion 20811451
nsv441890 CNV CNV 18776908
esv998628 CNV Insertion 20482838
nsv509908 CNV Loss 20534489
esv8809 CNV Gain 19470904

Variation tolerance for MTHFD2L Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTHFD2L Gene

HapMap Linkage Disequilibrium report
MTHFD2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFD2L Gene

Disorders for MTHFD2L Gene

Relevant External Links for MTHFD2L

Genetic Association Database (GAD)
MTHFD2L
Human Genome Epidemiology (HuGE) Navigator
MTHFD2L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTHFD2L

No disorders were found for MTHFD2L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTHFD2L Gene

Publications for MTHFD2L Gene

  1. Mammalian MTHFD2L encodes a mitochondrial methylenetetrahydrofolate dehydrogenase isozyme expressed in adult tissues. (PMID: 21163947) Bolusani S. … Appling D.R. (J. Biol. Chem. 2011) 2 3 4 67
  2. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PMID: 22610502) Kennedy R.B. … Poland G.A. (Hum. Genet. 2012) 3
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. 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) 3

Products for MTHFD2L Gene

Sources for MTHFD2L Gene

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