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

Gene ID: 441024, updated on 12-Aug-2022

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. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
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
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (74114560..74303099)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (77466876..77646724)
105.20220307 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 1179 Neighboring gene Sharpr-MPRA regulatory region 14567 Neighboring gene uncharacterized LOC105377277 Neighboring gene Sharpr-MPRA regulatory region 11080 Neighboring gene uncharacterized LOC105377276 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1828 Neighboring gene epithelial mitogen

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

Homology

Clone Names

  • FLJ13105, MGC45532, MGC72244

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in 10-formyltetrahydrofolate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in folic acid metabolic process TAS
Traceable Author Statement
more info
 
involved_in histidine biosynthetic process IEA
Inferred from Electronic Annotation
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
PubMed 
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
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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

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
    Consensus CDS
    CCDS34009.1
    UniProtKB/TrEMBL
    A0A024RDE0
    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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    UniProtKB/TrEMBL
    A0A024RDE0
  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
    77466876..77646724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)