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

Gene ID: 441024, updated on 10-Oct-2019

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
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
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See MTHFD2L in Genome Data Viewer
Location:
4q13.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (74123273..74303099)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74989019..75168816)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 90B pseudogene Neighboring gene uncharacterized LOC105377277 Neighboring gene C-X-C motif chemokine ligand 2 Neighboring gene Sharpr-MPRA regulatory region 11080 Neighboring gene uncharacterized LOC105377276 Neighboring gene epithelial mitogen 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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13105, MGC45532, MGC72244

Gene Ontology Provided by GOA

Function Evidence Code Pubs
methenyltetrahydrofolate cyclohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylenetetrahydrofolate dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
10-formyltetrahydrofolate metabolic process IEA
Inferred from Electronic Annotation
more info
 
folic acid metabolic process TAS
Traceable Author Statement
more info
 
histidine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
methionine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
purine nucleotide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
tetrahydrofolate interconversion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tetrahydrofolate interconversion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2
Names
MTHFD2-like
NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein
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_005265747.1
XP_016863707.1
XP_016863708.1
XP_016863709.1
XP_016863710.1
XP_016863711.1
XP_016863712.1
XP_016863713.1
XP_016863714.1
XP_016863715.1
XP_016863717.1
XP_016863718.1
XP_016863719.1
XP_016863723.1

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.

mRNA and Protein(s)

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

    Status: VALIDATED

    Source sequence(s)
    AC093677, AC097470
    Consensus CDS
    CCDS34009.1
    UniProtKB/TrEMBL
    A0A024RDE0
    Related
    ENSP00000321984.6, ENST00000325278.6
    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_001144978.2NP_001138450.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 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
    Q9H903
    Related
    ENSP00000379108.2, ENST00000395759.6
    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_001351310.1NP_001338239.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC093677, AC097470, BC032771
    Related
    ENSP00000391327.1, ENST00000429519.5
    Conserved Domains (1) summary
    COG0190
    Location:2211
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
  4. NM_001351311.1NP_001338240.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC093677, AC097470, BC032771
    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  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 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_001351329.1NP_001338258.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC093677, BX090674
  7. NM_001351331.2NP_001338260.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC093677, BX090674

RNA

  1. NR_147097.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093677, AC097470, BQ015209

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    74123273..74303099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008225.1XP_016863714.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X8

    Conserved Domains (3) summary
    cd01080
    Location:106253
    NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:2254
    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. XM_017008226.1XP_016863715.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X8

    Conserved Domains (3) summary
    cd01080
    Location:106253
    NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:2254
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:2111
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
  3. XM_017008218.2XP_016863707.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X1

  4. XM_017008219.2XP_016863708.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X2

    Conserved Domains (3) summary
    cd01080
    Location:267404
    NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:155405
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:156272
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
  5. XM_017008221.2XP_016863710.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X4

  6. XM_017008220.2XP_016863709.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X3

  7. XM_017008223.2XP_016863712.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X6

  8. XM_017008222.2XP_016863711.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X5

  9. XM_005265690.2XP_005265747.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X8

    Conserved Domains (3) summary
    cd01080
    Location:106253
    NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:2254
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:2111
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
  10. XM_017008228.1XP_016863717.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X9

  11. XM_017008230.1XP_016863719.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X11

  12. XM_017008229.1XP_016863718.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X10

    Conserved Domains (1) summary
    COG0190
    Location:2211
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
  13. XM_017008234.1XP_016863723.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X12

  14. XM_017008224.1XP_016863713.1  probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X7

RNA

  1. XR_001741224.2 RNA Sequence

  2. XR_001741227.2 RNA Sequence

  3. XR_001741229.2 RNA Sequence

  4. XR_001741231.2 RNA Sequence

  5. XR_001741226.2 RNA Sequence

  6. XR_001741228.2 RNA Sequence

  7. XR_001741225.2 RNA Sequence

  8. XR_001741222.2 RNA Sequence

  9. XR_001741223.2 RNA Sequence

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