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

Gene ID: 441024, updated on 10-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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Clone Names

  • FLJ13105, MGC45532, MGC72244

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in 10-formyltetrahydrofolate metabolic process  
involved_in L-histidine biosynthetic process  
involved_in folic acid metabolic process  
involved_in methionine biosynthetic process  
involved_in purine nucleotide biosynthetic process  
involved_in tetrahydrofolate interconversion  
involved_in tetrahydrofolate interconversion  
involved_in tetrahydrofolate interconversion  
Component Evidence Code Pubs
located_in mitochondrial inner membrane  
located_in mitochondrial matrix  
located_in mitochondrion PubMed 
is_active_in mitochondrion  

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)

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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

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