• Gene id: 200895

Gene Summary

• Gene Symbol: DHFR2   Gene   UCSC   Ensembl
• Aliases: DHFRL1, DHFRP4
• Gene name: dihydrofolate reductase 2
• Alternate names: dihydrofolate reductase 2, mitochondrial, dihydrofolate reductase like 1, dihydrofolate reductase pseudogene 4, dihydrofolate reductase, mitochondrial, dihydrofolate reductase-like protein 1,
• Gene location: 3q11.2 (41332620: 41309267)     Exons: 5     NC_000015.10
• OMIM: 616588

Protein Summary

• Protein general information: Q86XF0  
  • Name: Dihydrofolate reductase 2, mitochondrial (Dihydrofolate reductase, mitochondrial) (EC 1.5.1.3) (Dihydrofolate reductase like protein 1)
  • Length: 187  
  • Mass: 21620
  • Tissue specificity: Expressed in numerous cell lines. {ECO
• Sequence:

  MFLLLNCIVAVSQNMGIGKNGDLPRPPLRNEFRYFQRMTTTSSVEGKQNLVIMGRKTWFSIPEKNRPLKDRINLV
  LSRELKEPPQGAHFLARSLDDALKLTERPELANKVDMIWIVGGSSVYKEAMNHLGHLKLFVTRIMQDFESDTFFS
  EIDLEKYKLLPEYPGVLSDVQEGKHIKYKFEVCEKDD

• Structural information:
  • Protein Domains: (4..18-)
    (/note="DHFR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00660"-)
  • Interpro: IPR024072  IPR001796  
  • Prosite: PS51330
  • CDD: cd00209
  • STRING: ENSP00000377768
• Other Databases: GeneCards:  DHFR2  Malacards:  DHFR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050661	NADP binding	IBA	molecular function
GO:0046655	folic acid metabolic process	IBA	biological process
GO:0046654	tetrahydrofolate biosynthetic process	IBA	biological process
GO:0046452	dihydrofolate metabolic process	IBA	biological process
GO:0004146	dihydrofolate reductase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0046105	thymidine biosynthetic process	IDA	biological process
GO:0003729	mRNA binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0004146	dihydrofolate reductase activity	IMP	molecular function
GO:0005759	mitochondrial matrix	IMP	cellular component
GO:0005743	mitochondrial inner membrane	IMP	cellular component
GO:0004146	dihydrofolate reductase activity	IEA	molecular function
GO:0046654	tetrahydrofolate biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004146	dihydrofolate reductase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0046654	tetrahydrofolate biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis
hsa01523	Antifolate resistance
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881