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    DHFR2 dihydrofolate reductase 2 [ Homo sapiens (human) ]

    Gene ID: 200895, updated on 28-Oct-2024

    Summary

    Official Symbol
    DHFR2provided by HGNC
    Official Full Name
    dihydrofolate reductase 2provided by HGNC
    Primary source
    HGNC:HGNC:27309
    See related
    Ensembl:ENSG00000178700 MIM:616588; AllianceGenome:HGNC:27309
    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
    Also known as
    DHFRL1; DHFRP4
    Summary
    Enables dihydrofolate reductase activity and mRNA binding activity. Involved in tetrahydrofolate metabolic process and thymidine biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 4.0), endometrium (RPKM 4.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DHFR2 in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (94057922..94063320, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (96756374..96761771, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (93776766..93781760, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ARF like GTPase 13B Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20124 Neighboring gene syntaxin 19 Neighboring gene RBBP4 pseudogene 2 Neighboring gene NOP2/Sun RNA methyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20125 Neighboring gene VISTA enhancer hs1462 Neighboring gene armadillo repeat containing 10 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ16119

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dihydrofolate reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dihydrofolate reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables folate reductase activity TAS
    Traceable Author Statement
    more info
     
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in dihydrofolate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in folic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in folic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tetrahydrofolate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tetrahydrofolate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tetrahydrofolate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thymidine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial inner membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrial matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    dihydrofolate reductase 2, mitochondrial
    Names
    dihydrofolate reductase like 1
    dihydrofolate reductase pseudogene 4
    dihydrofolate reductase, mitochondrial
    dihydrofolate reductase-like protein 1
    NP_001182572.1
    NP_789785.1
    XP_011510839.1
    XP_054201602.1

    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_001195643.2NP_001182572.1  dihydrofolate reductase 2, mitochondrial

      See identical proteins and their annotated locations for NP_001182572.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC130896, AW104373
      Consensus CDS
      CCDS2926.1
      UniProtKB/Swiss-Prot
      D3DN30, Q6P4I9, Q86XF0
      Related
      ENSP00000377768.2, ENST00000394221.3
      Conserved Domains (1) summary
      cd00209
      Location:5182
      DHFR; Dihydrofolate reductase (DHFR). Reduces 7,8-dihydrofolate to 5,6,7,8-tetrahydrofolate with NADPH as a cofactor. This is an essential step in the biosynthesis of deoxythymidine phosphate since 5,6,7,8-tetrahydrofolate is required to regenerate 5, ...
    2. NM_176815.5NP_789785.1  dihydrofolate reductase 2, mitochondrial

      See identical proteins and their annotated locations for NP_789785.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC130896, AW104373
      Consensus CDS
      CCDS2926.1
      UniProtKB/Swiss-Prot
      D3DN30, Q6P4I9, Q86XF0
      Related
      ENSP00000319170.2, ENST00000314636.3
      Conserved Domains (1) summary
      cd00209
      Location:5182
      DHFR; Dihydrofolate reductase (DHFR). Reduces 7,8-dihydrofolate to 5,6,7,8-tetrahydrofolate with NADPH as a cofactor. This is an essential step in the biosynthesis of deoxythymidine phosphate since 5,6,7,8-tetrahydrofolate is required to regenerate 5, ...

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      94057922..94063320 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512537.4XP_011510839.1  dihydrofolate reductase 2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011510839.1

      UniProtKB/Swiss-Prot
      D3DN30, Q6P4I9, Q86XF0
      Conserved Domains (1) summary
      cd00209
      Location:5182
      DHFR; Dihydrofolate reductase (DHFR). Reduces 7,8-dihydrofolate to 5,6,7,8-tetrahydrofolate with NADPH as a cofactor. This is an essential step in the biosynthesis of deoxythymidine phosphate since 5,6,7,8-tetrahydrofolate is required to regenerate 5, ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      96756374..96761771 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345627.1XP_054201602.1  dihydrofolate reductase 2, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B3KV46