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MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase [ Homo sapiens (human) ]

Gene ID: 10797, updated on 12-Oct-2019

Summary

Official Symbol
MTHFD2provided by HGNC
Official Full Name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolaseprovided by HGNC
Primary source
HGNC:HGNC:7434
See related
Ensembl:ENSG00000065911 MIM:604887
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NMDMC
Summary
This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in appendix (RPKM 27.6), lymph node (RPKM 27.0) and 25 other tissues See more
Orthologs

Genomic context

See MTHFD2 in Genome Data Viewer
Location:
2p13.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74198563..74217565)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74425690..74442425)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene BOLA3 divergent transcript Neighboring gene MOB kinase activator 1A Neighboring gene solute carrier family 4 member 5 Neighboring gene keratin 18 pseudogene 26 Neighboring gene RNA, U6 small nuclear 542, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef is identified to have a physical interaction with methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 (MTHFD2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
folic acid metabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
tetrahydrofolate interconversion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tetrahydrofolate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular space HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial
Names
NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase
NP_006627.2
XP_006711987.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029162.1 RefSeqGene

    Range
    5001..21736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006636.4NP_006627.2  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_006627.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and is the protein-coding transcript.
    Source sequence(s)
    AC073263, BC017054, BX475613, CB124593
    Consensus CDS
    CCDS1935.2
    UniProtKB/Swiss-Prot
    P13995
    Related
    ENSP00000377617.2, ENST00000394053.7
    Conserved Domains (3) summary
    cd01080
    Location:150329
    NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:39334
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:39155
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

RNA

  1. NR_027405.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon compared to variant 1, that includes an in-frame premature stop codon. This transcript variant is a candidate for NMD, and therefore is not thought to be protein-coding.
    Source sequence(s)
    BC015062, BC017054, BX475613, CB124593
    Related
    ENST00000409601.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    74198563..74217565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711924.2XP_006711987.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006711987.1

    UniProtKB/Swiss-Prot
    P13995
    Conserved Domains (1) summary
    COG0190
    Location:3232
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001040409.1: Suppressed sequence

    Description
    NM_001040409.1: This RefSeq was permanently suppressed because it contains the wrong CDS. If the translation start site is annotated correctly (matching that of variant 1), this transcript is a nonsense-mediated mRNA decay (NMD) candidate.
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