DHFR2 (dihydrofolate reductase 2) - Rat Genome Database
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Gene: DHFR2 (dihydrofolate reductase 2) Homo sapiens
Analyze
Symbol: DHFR2
Name: dihydrofolate reductase 2
RGD ID: 1346515
HGNC Page HGNC
Description: Exhibits dihydrofolate reductase activity and mRNA binding activity. Involved in tetrahydrofolate metabolic process and thymidine biosynthetic process. Localizes to mitochondrial inner membrane and mitochondrial matrix; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; bisphenol F; cisplatin.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DHFRL1; DHFRP4; dihydrofolate reductase 2, mitochondrial; dihydrofolate reductase like 1; dihydrofolate reductase pseudogene 4; dihydrofolate reductase, mitochondrial; dihydrofolate reductase-like 1; dihydrofolate reductase-like protein 1; FLJ16119
RGD Orthologs
Bonobo
Dog
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl394,047,836 - 94,063,389 (-)EnsemblGRCh38hg38GRCh38
GRCh38394,057,922 - 94,063,389 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37393,776,766 - 93,782,233 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36395,259,456 - 95,264,350 (-)NCBINCBI36hg18NCBI36
Build 34395,259,459 - 95,264,350NCBI
Celera392,160,656 - 92,165,546 (-)NCBI
Cytogenetic Map3q11.2NCBI
HuRef391,139,383 - 91,144,684 (-)NCBIHuRef
CHM1_1393,739,771 - 93,745,071 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:14702039   PMID:15489334   PMID:17207965   PMID:18447718   PMID:21044950   PMID:21873635   PMID:21876184   PMID:21876188   PMID:24122410   PMID:25980602   PMID:26186194   PMID:27432908  
PMID:28514442  


Genomics

Comparative Map Data
DHFR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl394,047,836 - 94,063,389 (-)EnsemblGRCh38hg38GRCh38
GRCh38394,057,922 - 94,063,389 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37393,776,766 - 93,782,233 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36395,259,456 - 95,264,350 (-)NCBINCBI36hg18NCBI36
Build 34395,259,459 - 95,264,350NCBI
Celera392,160,656 - 92,165,546 (-)NCBI
Cytogenetic Map3q11.2NCBI
HuRef391,139,383 - 91,144,684 (-)NCBIHuRef
CHM1_1393,739,771 - 93,745,071 (-)NCBICHM1_1
DHFR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1397,802,727 - 97,807,705 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0391,125,295 - 91,128,378 (-)NCBIMhudiblu_PPA_v0panPan3
LOC609048
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11916,731,187 - 16,731,854 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
DHFR2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12286,643,325 - 86,645,418 (+)NCBI

Position Markers
RH69370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37393,776,987 - 93,777,245UniSTSGRCh37
Build 36395,259,677 - 95,259,935RGDNCBI36
Celera392,160,873 - 92,161,131RGD
Cytogenetic Map3q11.1UniSTS
HuRef391,139,604 - 91,139,862UniSTS
SHGC-36500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37393,783,132 - 93,783,232UniSTSGRCh37
Build 36395,265,822 - 95,265,922RGDNCBI36
Celera392,167,018 - 92,167,118RGD
Cytogenetic Map3q11.1UniSTS
HuRef391,145,749 - 91,145,849UniSTS
GeneMap99-G3 RH Map34195.0UniSTS
SHGC-30466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37393,777,599 - 93,777,726UniSTSGRCh37
Build 36395,260,289 - 95,260,416RGDNCBI36
Celera392,161,485 - 92,161,612RGD
Cytogenetic Map3q11.1UniSTS
HuRef391,140,216 - 91,140,343UniSTS
Stanford-G3 RH Map34208.0UniSTS
NCBI RH Map3710.6UniSTS
GeneMap99-G3 RH Map34177.0UniSTS
RH68956  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map3q11.1UniSTS
RH79212  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map3q11.1UniSTS
GDB:344962  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map3q11.1UniSTS
PMC149466P8  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map2p12UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2683
Count of miRNA genes:800
Interacting mature miRNAs:928
Transcripts:ENST00000314636, ENST00000394221, ENST00000461173, ENST00000481631, ENST00000496983
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 31 3 33 6 93 7 152 31 210 60 172 107 112
Low 2403 2541 1688 616 1519 456 4034 1899 3504 355 1288 1496 174 1 1204 2505 6 2
Below cutoff 5 447 5 2 339 2 171 267 20 4 10 171

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000314636   ⟹   ENSP00000319170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl394,057,922 - 94,062,987 (-)Ensembl
RefSeq Acc Id: ENST00000394221   ⟹   ENSP00000377768
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl394,057,922 - 94,062,916 (-)Ensembl
RefSeq Acc Id: ENST00000461173   ⟹   ENSP00000418415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl394,058,725 - 94,062,899 (-)Ensembl
RefSeq Acc Id: ENST00000481631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl394,047,836 - 94,062,841 (-)Ensembl
RefSeq Acc Id: ENST00000496983   ⟹   ENSP00000420810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl394,061,169 - 94,063,389 (-)Ensembl
RefSeq Acc Id: ENST00000619045   ⟹   ENSP00000480823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl394,058,754 - 94,062,899 (-)Ensembl
RefSeq Acc Id: NM_001195643   ⟹   NP_001182572
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38394,057,922 - 94,062,916 (-)NCBI
GRCh37393,776,766 - 93,782,233 (-)NCBI
HuRef391,139,383 - 91,144,684 (-)ENTREZGENE
CHM1_1393,739,771 - 93,745,071 (-)NCBI
Sequence:
RefSeq Acc Id: NM_176815   ⟹   NP_789785
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38394,057,922 - 94,062,916 (-)NCBI
GRCh37393,776,766 - 93,782,233 (-)NCBI
Build 36395,259,456 - 95,264,350 (-)NCBI Archive
Celera392,160,656 - 92,165,546 (-)RGD
HuRef391,139,383 - 91,144,684 (-)ENTREZGENE
CHM1_1393,739,771 - 93,744,835 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512537   ⟹   XP_011510839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38394,057,922 - 94,063,389 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_789785   ⟸   NM_176815
- UniProtKB: Q86XF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182572   ⟸   NM_001195643
- UniProtKB: Q86XF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510839   ⟸   XM_011512537
- Peptide Label: isoform X1
- UniProtKB: Q86XF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000420810   ⟸   ENST00000496983
RefSeq Acc Id: ENSP00000319170   ⟸   ENST00000314636
RefSeq Acc Id: ENSP00000377768   ⟸   ENST00000394221
RefSeq Acc Id: ENSP00000480823   ⟸   ENST00000619045
RefSeq Acc Id: ENSP00000418415   ⟸   ENST00000461173
Protein Domains
DHFR

Promoters
RGD ID:6865054
Promoter ID:EPDNEW_H5692
Type:initiation region
Name:DHFRL1_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5694  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38394,062,915 - 94,062,975EPDNEW
RGD ID:6865058
Promoter ID:EPDNEW_H5694
Type:initiation region
Name:DHFRL1_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5692  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38394,062,916 - 94,062,976EPDNEW
RGD ID:6800827
Promoter ID:HG_KWN:45625
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_176815,   UC003DRJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36395,264,291 - 95,264,822 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
GRCh38/hg38 3q11.1-11.2(chr3:93856441-94708419)x3 copy number gain See cases [RCV000133764] Chr3:93856441..94708419 [GRCh38]
Chr3:93575285..94427263 [GRCh37]
Chr3:95057975..95909953 [NCBI36]
Chr3:3q11.1-11.2
uncertain significance
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31
pathogenic
GRCh38/hg38 3q11.1-11.2(chr3:93808831-94785647)x3 copy number gain See cases [RCV000138051] Chr3:93808831..94785647 [GRCh38]
Chr3:93527675..94504491 [GRCh37]
Chr3:95010365..95987181 [NCBI36]
Chr3:3q11.1-11.2
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 copy number gain See cases [RCV000143259] Chr3:93819623..103888749 [GRCh38]
Chr3:93538467..103607593 [GRCh37]
Chr3:95021157..105090283 [NCBI36]
Chr3:3q11.1-13.11
likely pathogenic|uncertain significance
GRCh38/hg38 3q11.1-11.2(chr3:93800620-94792824)x3 copy number gain See cases [RCV000143780] Chr3:93800620..94792824 [GRCh38]
Chr3:93519464..94511668 [GRCh37]
Chr3:95002154..95994358 [NCBI36]
Chr3:3q11.1-11.2
uncertain significance
GRCh37/hg19 3q11.1-11.2(chr3:93519464-94500476)x3 copy number gain See cases [RCV000446167] Chr3:93519464..94500476 [GRCh37]
Chr3:3q11.1-11.2
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
Single allele deletion Abnormal thrombosis [RCV001004037] Chr3:93516594..96012342 [GRCh37]
Chr3:3q11.1-11.2
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NC_000003.12:g.(?_94035331)_(94061511_?)dup duplication Joubert syndrome 8 [RCV001032537] Chr3:93754175..93780355 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.(?_93973674)_(94126490_?)dup duplication Joubert syndrome 8 [RCV001033471] Chr3:93692518..93845334 [GRCh37]
Chr3:3q11.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27309 AgrOrtholog
COSMIC DHFR2 COSMIC
Ensembl Genes ENSG00000178700 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000319170 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377768 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418415 UniProtKB/Swiss-Prot
  ENSP00000420810 UniProtKB/TrEMBL
  ENSP00000480823 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000314636 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394221 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000461173 UniProtKB/Swiss-Prot
  ENST00000496983 UniProtKB/TrEMBL
  ENST00000619045 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.430.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178700 GTEx
HGNC ID HGNC:27309 ENTREZGENE
Human Proteome Map DHFR2 Human Proteome Map
InterPro DHFR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHFR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:200895 UniProtKB/Swiss-Prot
NCBI Gene 200895 ENTREZGENE
OMIM 616588 OMIM
Pfam DHFR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134889916 PharmGKB
PROSITE DHFR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53597 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JJ68_HUMAN UniProtKB/TrEMBL
  DYR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DN30 UniProtKB/Swiss-Prot
  Q6P4I9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-30 DHFR2  dihydrofolate reductase 2  DHFRL1  dihydrofolate reductase like 1  Symbol and/or name change 5135510 APPROVED
2015-11-17 DHFRL1  dihydrofolate reductase like 1    dihydrofolate reductase-like 1  Symbol and/or name change 5135510 APPROVED