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    MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like [ Homo sapiens (human) ]

    Gene ID: 441024, updated on 9-Dec-2024

    Summary

    Official Symbol
    MTHFD2Lprovided by HGNC
    Official Full Name
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 likeprovided by HGNC
    Primary source
    HGNC:HGNC:31865
    See related
    Ensembl:ENSG00000163738 MIM:614047; AllianceGenome:HGNC:31865
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See MTHFD2L in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (74114560..74303099)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (77457787..77646724)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74988990..75168816)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7725 Neighboring gene coiled-coil domain containing 90B pseudogene Neighboring gene Sharpr-MPRA regulatory region 1179 Neighboring gene Sharpr-MPRA regulatory region 14567 Neighboring gene uncharacterized LOC105377277 Neighboring gene C-X-C motif chemokine ligand 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:75022974-75023732 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:75023733-75024489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21614 Neighboring gene Sharpr-MPRA regulatory region 11080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15477 Neighboring gene uncharacterized LOC105377276 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1828 Neighboring gene epithelial mitogen Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:75239895-75241094 Neighboring gene epiregulin

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13105, MGC45532, MGC72244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables methenyltetrahydrofolate cyclohydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methenyltetrahydrofolate cyclohydrolase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables methenyltetrahydrofolate cyclohydrolase activity TAS
    Traceable Author Statement
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NAD+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NAD+) activity TAS
    Traceable Author Statement
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methylenetetrahydrofolate dehydrogenase (NADP+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 10-formyltetrahydrofolate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in L-histidine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in folic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in methionine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine nucleotide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tetrahydrofolate interconversion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tetrahydrofolate interconversion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tetrahydrofolate interconversion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial
    Names
    MTHFD2-like
    NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein
    probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2
    tetrahydrofolate dehydrogenase/cyclohydrolase
    NP_001004346.2
    NP_001138450.1
    NP_001338239.1
    NP_001338240.1
    NP_001338243.1
    NP_001338258.1
    NP_001338260.1
    XP_016863707.1
    XP_016863708.2
    XP_016863709.2
    XP_016863711.2
    XP_016863713.1
    XP_047271666.1
    XP_047271667.1
    XP_047271668.1
    XP_047271669.1
    XP_047271670.1
    XP_047271671.1
    XP_047271672.1
    XP_047271673.1
    XP_054206043.1
    XP_054206044.1
    XP_054206045.1
    XP_054206046.1
    XP_054206047.1
    XP_054206048.1
    XP_054206049.1
    XP_054206050.1
    XP_054206051.1
    XP_054206052.1
    XP_054206053.1
    XP_054206054.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001004346.4NP_001004346.2  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC093677, AC097470
      Conserved Domains (3) summary
      cd01080
      Location:106285
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:2286
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:2111
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    2. NM_001144978.3NP_001138450.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001138450.1

      Status: VALIDATED

      Source sequence(s)
      AC093677, AI219460, AK122799, AV720429, BC032771, BC065771, CA438481
      Consensus CDS
      CCDS47075.1
      UniProtKB/Swiss-Prot
      Q6P079, Q8N560, Q9H903
      Related
      ENSP00000321984.7, ENST00000325278.7
      Conserved Domains (3) summary
      cd01080
      Location:164343
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:52344
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:53169
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    3. NM_001351310.2NP_001338239.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC093677, AC097470
      Related
      ENST00000433372.5
      Conserved Domains (1) summary
      COG0190
      Location:2211
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    4. NM_001351311.2NP_001338240.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC093677, AC097470
      Conserved Domains (1) summary
      COG0190
      Location:2211
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    5. NM_001351314.2NP_001338243.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC093677, AC097470, BQ015209
      Conserved Domains (2) summary
      cd01080
      Location:37216
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      cl27642
      Location:2442
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    6. NM_001351329.2NP_001338258.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC093677
      Related
      ENST00000461101.1
    7. NM_001351331.2NP_001338260.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC093677, BX090674

    RNA

    1. NR_147097.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC093677, AC097470, BQ015209
      Related
      ENST00000359107.10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      74114560..74303099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415712.1XP_047271668.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X8

    2. XM_047415715.1XP_047271671.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X9

    3. XM_047415716.1XP_047271672.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X10

    4. XM_047415713.1XP_047271669.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X8

    5. XM_047415714.1XP_047271670.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X8

    6. XM_047415717.1XP_047271673.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X11

    7. XM_017008218.3XP_016863707.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X1

    8. XM_017008219.3XP_016863708.2  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X2

    9. XM_047415710.1XP_047271666.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X3

    10. XM_047415711.1XP_047271667.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X5

    11. XM_017008220.3XP_016863709.2  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X4

    12. XM_017008222.3XP_016863711.2  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X6

    13. XM_017008224.2XP_016863713.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X7

    RNA

    1. XR_001741223.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      77457787..77646724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350079.1XP_054206054.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X18

    2. XM_054350068.1XP_054206043.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X1

    3. XM_054350069.1XP_054206044.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X12

    4. XM_054350070.1XP_054206045.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X13

    5. XM_054350071.1XP_054206046.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X14

    6. XM_054350073.1XP_054206048.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X16

    7. XM_054350072.1XP_054206047.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X15

    8. XM_054350075.1XP_054206050.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X9

    9. XM_054350076.1XP_054206051.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X10

    10. XM_054350077.1XP_054206052.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X11

    11. XM_054350074.1XP_054206049.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X7

    12. XM_054350078.1XP_054206053.1  bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform X17

    RNA

    1. XR_008486987.1 RNA Sequence

    2. XR_008486986.1 RNA Sequence

    3. XR_008486988.1 RNA Sequence

    4. XR_008486985.1 RNA Sequence

    5. XR_008486984.1 RNA Sequence