MTHFD2 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: MTHFD2 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase) Homo sapiens
Analyze
Symbol: MTHFD2
Name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
RGD ID: 1322701
HGNC Page HGNC
Description: Exhibits magnesium ion binding activity; methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity; and phosphate ion binding activity. Involved in tetrahydrofolate metabolic process. Localizes to extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial; NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase; NMDMC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MTHFD2P1   MTHFD2P2   MTHFD2P3   MTHFD2P4   MTHFD2P5   MTHFD2P6   MTHFD2P7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl274,198,610 - 74,217,565 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl274,186,172 - 74,217,565 (+)EnsemblGRCh38hg38GRCh38
GRCh38274,198,591 - 74,217,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37274,425,690 - 74,442,425 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36274,279,198 - 74,295,933 (+)NCBINCBI36hg18NCBI36
Build 34274,337,366 - 74,354,067NCBI
Celera274,256,899 - 74,273,604 (+)NCBI
Cytogenetic Map2p13.1NCBI
HuRef274,161,958 - 74,178,696 (+)NCBIHuRef
CHM1_1274,355,004 - 74,371,783 (+)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
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
5-azacytidine  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
artesunate  (EXP)
atrazine  (EXP)
Azaspiracid  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bexarotene  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
bucladesine  (EXP)
buta-1,3-diene  (ISO)
butan-1-ol  (EXP)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
deoxynivalenol  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diclofenac  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
etoposide  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (ISO)
glycine betaine  (ISO)
indole-3-methanol  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lamivudine  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
mitoxantrone  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
neomycin  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
pemetrexed  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phosgene  (ISO)
pirinixic acid  (EXP,ISO)
potassium bromate  (ISO)
potassium dichromate  (EXP)
progesterone  (EXP,ISO)
quinoline  (EXP)
resveratrol  (ISO)
riddelliine  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sulindac  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP,ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:2587219   PMID:8125298   PMID:8218174   PMID:8939898   PMID:12477932   PMID:15342116   PMID:15489334   PMID:15815621   PMID:16100107   PMID:16344560   PMID:16712791   PMID:17353931  
PMID:18676680   PMID:18830263   PMID:19048631   PMID:19161160   PMID:19170196   PMID:19322201   PMID:19493349   PMID:19625176   PMID:19692168   PMID:20453000   PMID:20634891   PMID:20877624  
PMID:21145461   PMID:21516116   PMID:21873635   PMID:22114354   PMID:22190034   PMID:22664934   PMID:22939629   PMID:23295955   PMID:24451681   PMID:24623722   PMID:24870594   PMID:25147182  
PMID:25416956   PMID:26186194   PMID:26344197   PMID:26461067   PMID:26496610   PMID:26561776   PMID:27025967   PMID:27257051   PMID:27315223   PMID:27325891   PMID:27432908   PMID:27637333  
PMID:27899380   PMID:28059050   PMID:28380382   PMID:28514442   PMID:29111377   PMID:29128334   PMID:29331416   PMID:29513927   PMID:29568061   PMID:29895827   PMID:30033366   PMID:30442662  
PMID:30466107   PMID:30532069   PMID:30833792   PMID:31056398   PMID:31091453   PMID:31209892   PMID:31289360   PMID:31377316   PMID:31536960   PMID:31586073   PMID:31624245   PMID:31753913  
PMID:31796584   PMID:32088725   PMID:32296183   PMID:32694731   PMID:32877691   PMID:32925794  


Genomics

Comparative Map Data
MTHFD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl274,198,610 - 74,217,565 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl274,186,172 - 74,217,565 (+)EnsemblGRCh38hg38GRCh38
GRCh38274,198,591 - 74,217,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37274,425,690 - 74,442,425 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36274,279,198 - 74,295,933 (+)NCBINCBI36hg18NCBI36
Build 34274,337,366 - 74,354,067NCBI
Celera274,256,899 - 74,273,604 (+)NCBI
Cytogenetic Map2p13.1NCBI
HuRef274,161,958 - 74,178,696 (+)NCBIHuRef
CHM1_1274,355,004 - 74,371,783 (+)NCBICHM1_1
Mthfd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39683,282,686 - 83,302,926 (-)NCBIGRCm39mm39
GRCm38683,305,704 - 83,326,011 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl683,305,691 - 83,325,908 (-)EnsemblGRCm38mm10GRCm38
MGSCv37683,255,698 - 83,267,598 (-)NCBIGRCm37mm9NCBIm37
MGSCv36683,271,364 - 83,283,262 (-)NCBImm8
Celera685,286,788 - 85,298,680 (-)NCBICelera
Cytogenetic Map6C3NCBI
cM Map635.94NCBI
Mthfd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.04115,004,433 - 115,015,965 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4115,004,448 - 115,015,965 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04179,592,799 - 179,604,331 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44117,517,611 - 117,529,128 (-)NCBIRGSC3.4rn4RGSC3.4
Celera4104,805,220 - 104,816,732 (-)NCBICelera
Cytogenetic Map4q34NCBI
Mthfd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542411,539,399 - 11,550,220 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542411,538,344 - 11,550,119 (-)NCBIChiLan1.0ChiLan1.0
MTHFD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A75,777,023 - 75,792,699 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A75,777,028 - 75,792,699 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A74,270,161 - 74,285,790 (+)NCBIMhudiblu_PPA_v0panPan3
MTHFD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1748,883,724 - 48,941,949 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11748,882,838 - 48,896,816 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mthfd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936556462,998 - 475,092 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTHFD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl368,819,612 - 68,853,067 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1368,819,171 - 68,833,641 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2372,058,348 - 72,067,128 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTHFD2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11433,063,485 - 33,080,703 (-)NCBI
Mthfd2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474929,264,577 - 29,276,769 (-)NCBI

Position Markers
D14S71  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,580,844 - 74,581,091UniSTSGRCh37
GRCh37274,430,205 - 74,430,632UniSTSGRCh37
GRCh371474,580,842 - 74,581,038UniSTSGRCh37
Build 361473,650,597 - 73,650,844RGDNCBI36
Celera1454,617,790 - 54,618,039RGD
Celera274,261,414 - 74,261,841UniSTS
Celera1454,617,788 - 54,617,986UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p13.1UniSTS
HuRef1454,747,565 - 54,747,814UniSTS
HuRef274,166,471 - 74,166,898UniSTS
HuRef1454,747,563 - 54,747,761UniSTS
Marshfield Genetic Map1482.56UniSTS
Marshfield Genetic Map1482.56RGD
Genethon Genetic Map1471.5UniSTS
TNG Radiation Hybrid Map1426865.0UniSTS
deCODE Assembly Map1472.42UniSTS
Stanford-G3 RH Map142691.0UniSTS
GeneMap99-GB4 RH Map14194.36UniSTS
Whitehead-RH Map14262.9UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14826.6UniSTS
GeneMap99-G3 RH Map142739.0UniSTS
RH70261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37782,218,087 - 82,218,279UniSTSGRCh37
GRCh37274,442,219 - 74,442,410UniSTSGRCh37
Build 36274,295,727 - 74,295,918RGDNCBI36
Celera274,273,398 - 74,273,589RGD
Celera776,918,598 - 76,918,790UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p13.1UniSTS
HuRef776,821,587 - 76,821,779UniSTS
HuRef274,178,490 - 74,178,681UniSTS
CRA_TCAGchr7v2781,550,198 - 81,550,390UniSTS
SHGC-168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37782,218,417 - 82,218,664UniSTSGRCh37
GRCh37274,441,799 - 74,442,048UniSTSGRCh37
Build 36274,295,307 - 74,295,556RGDNCBI36
Celera274,272,978 - 74,273,227RGD
Celera776,918,928 - 76,919,175UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p13.1UniSTS
HuRef776,821,917 - 76,822,164UniSTS
HuRef274,178,070 - 74,178,319UniSTS
CRA_TCAGchr7v2781,550,528 - 81,550,775UniSTS
RH47176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371361,027,435 - 61,027,616UniSTSGRCh37
GRCh37274,441,781 - 74,441,958UniSTSGRCh37
Build 36274,295,289 - 74,295,466RGDNCBI36
Celera1341,986,579 - 41,986,760UniSTS
Celera274,272,960 - 74,273,137RGD
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map13q21.2UniSTS
HuRef1341,719,173 - 41,719,354UniSTS
HuRef274,178,052 - 74,178,229UniSTS
G07090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,441,414 - 74,441,524UniSTSGRCh37
Build 36274,294,922 - 74,295,032RGDNCBI36
Celera274,272,593 - 74,272,703RGD
Cytogenetic Map2p13.1UniSTS
HuRef274,177,685 - 74,177,795UniSTS
MTHFD2__7303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,441,711 - 74,442,449UniSTSGRCh37
Build 36274,295,219 - 74,295,957RGDNCBI36
Celera274,272,890 - 74,273,628RGD
HuRef274,177,982 - 74,178,720UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3222
Count of miRNA genes:973
Interacting mature miRNAs:1152
Transcripts:ENST00000264090, ENST00000394050, ENST00000394053, ENST00000409601, ENST00000409804, ENST00000462026, ENST00000470592, ENST00000477455, ENST00000488086, ENST00000489041
Prediction methods:Microtar, 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 1
Medium 2032 1965 1032 217 1395 60 3940 1559 1386 227 1359 1540 173 1 1195 2516 5 2
Low 407 1025 658 371 555 369 417 638 2336 192 100 70 2 9 272 1
Below cutoff 1 36 36 1 36 12 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU125762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX475613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB124593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000394053   ⟹   ENSP00000377617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,615 - 74,217,565 (+)Ensembl
RefSeq Acc Id: ENST00000409601   ⟹   ENSP00000386542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,616 - 74,215,277 (+)Ensembl
RefSeq Acc Id: ENST00000409804   ⟹   ENSP00000386536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,610 - 74,215,298 (+)Ensembl
RefSeq Acc Id: ENST00000462026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,206,394 - 74,210,051 (+)Ensembl
RefSeq Acc Id: ENST00000470592   ⟹   ENSP00000419067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,613 - 74,214,741 (+)Ensembl
RefSeq Acc Id: ENST00000477455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,615 - 74,208,721 (+)Ensembl
RefSeq Acc Id: ENST00000488086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,629 - 74,206,073 (+)Ensembl
RefSeq Acc Id: ENST00000489041   ⟹   ENSP00000419550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,615 - 74,214,605 (+)Ensembl
RefSeq Acc Id: ENST00000677170   ⟹   ENSP00000503486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,186,213 - 74,215,571 (+)Ensembl
RefSeq Acc Id: ENST00000677299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,209,019 - 74,215,266 (+)Ensembl
RefSeq Acc Id: ENST00000677377   ⟹   ENSP00000502903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,615 - 74,217,503 (+)Ensembl
RefSeq Acc Id: ENST00000677558   ⟹   ENSP00000503573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,212,075 - 74,215,267 (+)Ensembl
RefSeq Acc Id: ENST00000677997   ⟹   ENSP00000503074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,186,172 - 74,215,344 (+)Ensembl
RefSeq Acc Id: ENST00000678228   ⟹   ENSP00000503299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,617 - 74,215,279 (+)Ensembl
RefSeq Acc Id: ENST00000678340   ⟹   ENSP00000503933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,615 - 74,215,414 (+)Ensembl
RefSeq Acc Id: ENST00000678623   ⟹   ENSP00000504392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,206,384 - 74,215,279 (+)Ensembl
RefSeq Acc Id: ENST00000678633   ⟹   ENSP00000504822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,212,075 - 74,215,282 (+)Ensembl
RefSeq Acc Id: ENST00000678684   ⟹   ENSP00000504687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,186,465 - 74,215,344 (+)Ensembl
RefSeq Acc Id: ENST00000678731   ⟹   ENSP00000503927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,206,394 - 74,215,571 (+)Ensembl
RefSeq Acc Id: ENST00000678955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,614 - 74,215,344 (+)Ensembl
RefSeq Acc Id: ENST00000679055   ⟹   ENSP00000503701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,198,615 - 74,215,525 (+)Ensembl
RefSeq Acc Id: NM_006636   ⟹   NP_006627
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,198,615 - 74,217,565 (+)NCBI
GRCh37274,425,690 - 74,442,425 (+)RGD
Build 36274,279,198 - 74,295,933 (+)NCBI Archive
Celera274,256,899 - 74,273,604 (+)RGD
HuRef274,161,958 - 74,178,696 (+)RGD
CHM1_1274,355,004 - 74,371,783 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027405
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,198,615 - 74,217,565 (+)NCBI
GRCh37274,425,690 - 74,442,425 (+)RGD
Celera274,256,899 - 74,273,604 (+)RGD
HuRef274,161,958 - 74,178,696 (+)RGD
CHM1_1274,355,004 - 74,371,783 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711924   ⟹   XP_006711987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,198,591 - 74,215,298 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006627   ⟸   NM_006636
- Peptide Label: precursor
- UniProtKB: P13995 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006711987   ⟸   XM_006711924
- Peptide Label: isoform X1
- UniProtKB: P13995 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000419067   ⟸   ENST00000470592
RefSeq Acc Id: ENSP00000377617   ⟸   ENST00000394053
RefSeq Acc Id: ENSP00000386536   ⟸   ENST00000409804
RefSeq Acc Id: ENSP00000386542   ⟸   ENST00000409601
RefSeq Acc Id: ENSP00000419550   ⟸   ENST00000489041
RefSeq Acc Id: ENSP00000503486   ⟸   ENST00000677170
RefSeq Acc Id: ENSP00000503573   ⟸   ENST00000677558
RefSeq Acc Id: ENSP00000502903   ⟸   ENST00000677377
RefSeq Acc Id: ENSP00000503074   ⟸   ENST00000677997
RefSeq Acc Id: ENSP00000503933   ⟸   ENST00000678340
RefSeq Acc Id: ENSP00000503299   ⟸   ENST00000678228
RefSeq Acc Id: ENSP00000503927   ⟸   ENST00000678731
RefSeq Acc Id: ENSP00000504687   ⟸   ENST00000678684
RefSeq Acc Id: ENSP00000504392   ⟸   ENST00000678623
RefSeq Acc Id: ENSP00000504822   ⟸   ENST00000678633
RefSeq Acc Id: ENSP00000503701   ⟸   ENST00000679055
Protein Domains
THF_DHG_CYH   THF_DHG_CYH_C

Promoters
RGD ID:6860718
Promoter ID:EPDNEW_H3524
Type:initiation region
Name:MTHFD2_1
Description:methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2,methenyltetrahydrofolate cyclohydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,198,615 - 74,198,675EPDNEW
RGD ID:6797162
Promoter ID:HG_KWN:33299
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409804,   OTTHUMT00000252045,   OTTHUMT00000329303,   OTTHUMT00000329304,   UC002SKJ.1,   UC010FFB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,279,016 - 74,279,516 (+)MPROMDB
RGD ID:6852370
Promoter ID:EP73992
Type:initiation region
Name:HS_MTHFD2
Description:Methylene tetrahydrofolate dehydrogenase (NAD+ dependent),methenyltetrahydrofolate cyclohydrolase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,279,250 - 74,279,310EPD
RGD ID:6797836
Promoter ID:HG_KWN:33300
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000329305
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,286,096 - 74,287,172 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 copy number loss See cases [RCV000510763] Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p13.1(chr2:74364945-74476818)x3 copy number gain not provided [RCV000845874] Chr2:74364945..74476818 [GRCh37]
Chr2:2p13.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7434 AgrOrtholog
COSMIC MTHFD2 COSMIC
Ensembl Genes ENSG00000065911 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000377617 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386536 UniProtKB/TrEMBL
  ENSP00000386542 UniProtKB/TrEMBL
  ENSP00000419067 UniProtKB/TrEMBL
  ENSP00000419550 UniProtKB/TrEMBL
  ENSP00000503701 ENTREZGENE
Ensembl Transcript ENST00000394053 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409601 UniProtKB/TrEMBL
  ENST00000409804 UniProtKB/TrEMBL
  ENST00000470592 UniProtKB/TrEMBL
  ENST00000489041 UniProtKB/TrEMBL
  ENST00000677377 ENTREZGENE
  ENST00000679055 ENTREZGENE
GTEx ENSG00000065911 GTEx
HGNC ID HGNC:7434 ENTREZGENE
Human Proteome Map MTHFD2 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_NAD-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10797 UniProtKB/Swiss-Prot
NCBI Gene 10797 ENTREZGENE
OMIM 604887 OMIM
PANTHER PTHR10025 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam THF_DHG_CYH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MTHFD2 RGD, PharmGKB
PRINTS THFDHDRGNASE UniProtKB/Swiss-Prot
PROSITE THF_DHG_CYH_1 UniProtKB/Swiss-Prot
  THF_DHG_CYH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B8ZZU9_HUMAN UniProtKB/TrEMBL
  B9A062_HUMAN UniProtKB/TrEMBL
  F8WF06_HUMAN UniProtKB/TrEMBL
  F8WF89_HUMAN UniProtKB/TrEMBL
  MTDC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q53G90 UniProtKB/Swiss-Prot
  Q53GV5 UniProtKB/Swiss-Prot
  Q53S36 UniProtKB/Swiss-Prot
  Q7Z650 UniProtKB/Swiss-Prot