DHFR2 dihydrofolate reductase 2 [Homo sapiens (human)] - Gene

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, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 4.0), endometrium (RPKM 4.0) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 3q11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (94057922..94063320, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (96756374..96761771, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (93776766..93781760, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance.
Title: The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance.
A dihydrofolate reductase 2 (DHFR2) variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort.
Title: A dihydrofolate reductase 2 (DHFR2) variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort.
We hope this work will be useful to understand the general characteristics of DHFRL1.
Title: Insight into the molecular mechanism about lowered dihydrofolate binding affinity to dihydrofolate reductase-like 1 (DHFRL1).
The DHFRP4, or dihydrofolate reductase-like 1 (DHFRL1), gene is expressed and shares some commonalities with DHFR.
Title: The former annotated human pseudogene dihydrofolate reductase-like 1 (DHFRL1) is expressed and functional.
The results of this study suggest that genetic variants of methionine metabolism are associated with meningioma formation
Title: Polymorphisms of methionine metabolism and susceptibility to meningioma formation: laboratory investigation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-30466 (e-PCR)
- UniSTS:40719

GDB:344962 (e-PCR)
- UniSTS:156697

SHGC-36500 (e-PCR)
- UniSTS:10323

PMC149466P8 (e-PCR)
- UniSTS:271043

RH68956 (e-PCR)
- UniSTS:89808

RH69370 (e-PCR)
- UniSTS:89812

RH79212 (e-PCR)
- UniSTS:90871

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
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

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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

EC 1.5.1.3

NP_789785.1

EC 1.5.1.3

XP_011510839.1

EC 1.5.1.3

XP_054201602.1

EC 1.5.1.3

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)

NM_001195643.2 → NP_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:5 → 182

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, ...
NM_176815.5 → NP_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:5 → 182

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

94057922..94063320 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011512537.4 → XP_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:5 → 182

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, ...