MTHFS (methenyltetrahydrofolate synthetase) - Rat Genome Database

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Gene: MTHFS (methenyltetrahydrofolate synthetase) Homo sapiens
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Symbol: MTHFS
Name: methenyltetrahydrofolate synthetase
RGD ID: 1315743
HGNC Page HGNC:7437
Description: Enables 5-formyltetrahydrofolate cyclo-ligase activity; ATP binding activity; and folic acid binding activity. Involved in folic acid catabolic process; glutamate metabolic process; and tetrahydrofolate interconversion. Located in cytosol and mitochondrial matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5,10-methenyl-tetrahydrofolate synthetase; 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase); 5-formyltetrahydrofolate cyclo-ligase; FLJ30410; HsT19268; methenyl-THF synthetase; NEDMEHM
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381579,843,547 - 79,897,285 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1579,833,585 - 79,897,379 (-)EnsemblGRCh38hg38GRCh38
GRCh371580,135,889 - 80,189,627 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361577,924,373 - 77,976,425 (-)NCBINCBI36Build 36hg18NCBI36
Build 341577,924,374 - 77,976,395NCBI
Celera1557,073,628 - 57,125,676 (-)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1556,894,007 - 56,947,724 (-)NCBIHuRef
CHM1_11580,252,880 - 80,306,583 (-)NCBICHM1_1
T2T-CHM13v2.01577,706,557 - 77,760,238 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,TAS)
mitochondrial matrix  (IDA)
mitochondrion  (HTP,IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3801490   PMID:7766710   PMID:8522195   PMID:12477932   PMID:12764149   PMID:14702039   PMID:15489334   PMID:16189514   PMID:17119116   PMID:17891500   PMID:18029348   PMID:18522750  
PMID:18830263   PMID:19048631   PMID:19161160   PMID:19738041   PMID:19936946   PMID:20570913   PMID:20634891   PMID:20877624   PMID:20967262   PMID:21873635   PMID:21895484   PMID:24024966  
PMID:27499296   PMID:28514442   PMID:28846114   PMID:29467282   PMID:30021884   PMID:33961781   PMID:34349018   PMID:34702444   PMID:34800366   PMID:35944360   PMID:38334954  


Genomics

Comparative Map Data
MTHFS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381579,843,547 - 79,897,285 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1579,833,585 - 79,897,379 (-)EnsemblGRCh38hg38GRCh38
GRCh371580,135,889 - 80,189,627 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361577,924,373 - 77,976,425 (-)NCBINCBI36Build 36hg18NCBI36
Build 341577,924,374 - 77,976,395NCBI
Celera1557,073,628 - 57,125,676 (-)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1556,894,007 - 56,947,724 (-)NCBIHuRef
CHM1_11580,252,880 - 80,306,583 (-)NCBICHM1_1
T2T-CHM13v2.01577,706,557 - 77,760,238 (-)NCBIT2T-CHM13v2.0
Mthfs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39989,093,243 - 89,122,278 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl989,092,729 - 89,259,766 (+)EnsemblGRCm39 Ensembl
GRCm38989,211,190 - 89,240,225 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl989,210,676 - 89,377,713 (+)EnsemblGRCm38mm10GRCm38
MGSCv37989,106,028 - 89,135,063 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36989,009,083 - 89,038,118 (+)NCBIMGSCv36mm8
Celera988,839,126 - 88,843,217 (+)NCBICelera
Celera987,292,813 - 87,293,205 (+)NCBICelera
Cytogenetic Map9E3.1NCBI
cM Map947.24NCBI
Mthfs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8898,609,410 - 98,681,901 (+)NCBIGRCr8
mRatBN7.2889,729,498 - 89,801,998 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl889,729,508 - 89,799,089 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx895,394,939 - 95,444,440 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0893,594,149 - 93,643,652 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0891,457,900 - 91,507,365 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0896,564,877 - 96,614,386 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl896,564,877 - 96,614,348 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0896,071,796 - 96,121,086 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4894,058,605 - 94,108,277 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1894,078,059 - 94,127,729 (+)NCBI
Celera889,291,095 - 89,340,497 (+)NCBICelera
Cytogenetic Map8q31NCBI
Mthfs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955533720,353 - 756,893 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955533720,255 - 756,893 (-)NCBIChiLan1.0ChiLan1.0
MTHFS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21669,078,201 - 69,150,121 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11573,240,652 - 73,314,535 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01558,810,966 - 58,864,831 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11577,770,216 - 77,821,811 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1577,770,216 - 77,822,206 (-)Ensemblpanpan1.1panPan2
MTHFS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1357,480,935 - 57,514,836 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha360,139,116 - 60,173,501 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0357,913,790 - 57,950,014 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl357,913,875 - 57,950,438 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1357,413,049 - 57,447,505 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0357,620,059 - 57,654,466 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0357,967,073 - 58,003,248 (+)NCBIUU_Cfam_GSD_1.0
Mthfs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640119,976,748 - 120,116,548 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647137,902,554 - 37,964,812 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647137,910,856 - 37,964,655 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC102167410
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl748,717,851 - 48,873,455 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1748,717,518 - 48,873,492 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2754,276,934 - 54,313,887 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Mthfs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624941856,196 - 894,057 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTHFS
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3 copy number gain See cases [RCV000052107] Chr15:79552851..80526230 [GRCh38]
Chr15:79845193..80818571 [GRCh37]
Chr15:77632248..78605626 [NCBI36]
Chr15:15q25.1		 uncertain significance
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss See cases [RCV000137079] Chr15:76006154..79982417 [GRCh38]
Chr15:76298495..80274759 [GRCh37]
Chr15:74085550..78061814 [NCBI36]
Chr15:15q24.2-25.1		 pathogenic|uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
MTHFS, ARG145GLN AND NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, variation NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION [RCV000766130] Chr15:15q25.1 pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter) single nucleotide variant Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination [RCV000766132] Chr15:79845338 [GRCh38]
Chr15:80137680 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q25.1(chr15:79755580-80159956)x1 copy number loss See cases [RCV000447185] Chr15:79755580..80159956 [GRCh37]
Chr15:15q25.1		 likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln) single nucleotide variant Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination [RCV000766130]|not provided [RCV002533149] Chr15:79845388 [GRCh38]
Chr15:80137730 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic|uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_006441.4(MTHFS):c.107T>C (p.Leu36Pro) single nucleotide variant Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination [RCV000766131] Chr15:79896882 [GRCh38]
Chr15:80189224 [GRCh37]
Chr15:15q25.1		 pathogenic
MTHFS, GLN162TER AND NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, variation NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION [RCV000766132] Chr15:15q25.1 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 copy number gain not provided [RCV000683712] Chr15:79023343..87158823 [GRCh37]
Chr15:15q25.1-25.3		 pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
GRCh37/hg19 15q25.1(chr15:80137560-80443036)x3 copy number gain not provided [RCV000738849] Chr15:80137560..80443036 [GRCh37]
Chr15:15q25.1		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_006441.4(MTHFS):c.420C>T (p.Asp140=) single nucleotide variant MTHFS-related disorder [RCV003905986]|not provided [RCV000970285] Chr15:79845402 [GRCh38]
Chr15:80137744 [GRCh37]
Chr15:15q25.1		 benign
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
GRCh37/hg19 15q25.1(chr15:79679772-80383301)x3 copy number gain not provided [RCV001259713] Chr15:79679772..80383301 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.104T>C (p.Val35Ala) single nucleotide variant not provided [RCV001358519] Chr15:79896885 [GRCh38]
Chr15:80189227 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.54G>A (p.Lys18=) single nucleotide variant MTHFS-related disorder [RCV003976106]|not provided [RCV001726961] Chr15:79896935 [GRCh38]
Chr15:80189277 [GRCh37]
Chr15:15q25.1		 benign|likely benign
NM_006441.4(MTHFS):c.35G>T (p.Ser12Ile) single nucleotide variant not provided [RCV001768724]|not specified [RCV004040113] Chr15:79896954 [GRCh38]
Chr15:80189296 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.316A>T (p.Lys106Ter) single nucleotide variant Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination [RCV001848628] Chr15:79889156 [GRCh38]
Chr15:80181498 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_006441.4(MTHFS):c.117+7G>C single nucleotide variant MTHFS-related disorder [RCV003960943]|not provided [RCV002211311] Chr15:79896865 [GRCh38]
Chr15:80189207 [GRCh37]
Chr15:15q25.1		 benign|likely benign
NC_000015.9:g.(?_78857986)_(81282132_?)dup duplication not provided [RCV003116793] Chr15:78857986..81282132 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.35G>A (p.Ser12Asn) single nucleotide variant not provided [RCV003120252] Chr15:79896954 [GRCh38]
Chr15:80189296 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.220C>T (p.Arg74Ter) single nucleotide variant not provided [RCV003121729] Chr15:79889252 [GRCh38]
Chr15:80181594 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q25.1-25.2(chr15:79996626-82097796)x1 copy number loss not provided [RCV002472703] Chr15:79996626..82097796 [GRCh37]
Chr15:15q25.1-25.2		 uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_006441.4(MTHFS):c.244C>T (p.Arg82Trp) single nucleotide variant not provided [RCV002731265] Chr15:79889228 [GRCh38]
Chr15:80181570 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.592G>A (p.Glu198Lys) single nucleotide variant not provided [RCV003095345] Chr15:79845230 [GRCh38]
Chr15:80137572 [GRCh37]
Chr15:15q25.1		 benign
NM_006441.4(MTHFS):c.14C>T (p.Ala5Val) single nucleotide variant MTHFS-related disorder [RCV003936329]|not provided [RCV002907767] Chr15:79896975 [GRCh38]
Chr15:80189317 [GRCh37]
Chr15:15q25.1		 benign
NM_006441.4(MTHFS):c.76G>A (p.Ala26Thr) single nucleotide variant not provided [RCV002866340] Chr15:79896913 [GRCh38]
Chr15:80189255 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.250C>T (p.Arg84Trp) single nucleotide variant not provided [RCV002975901] Chr15:79889222 [GRCh38]
Chr15:80181564 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.101G>T (p.Arg34Leu) single nucleotide variant not provided [RCV002885793] Chr15:79896888 [GRCh38]
Chr15:80189230 [GRCh37]
Chr15:15q25.1		 benign
NM_006441.4(MTHFS):c.84G>A (p.Glu28=) single nucleotide variant not provided [RCV002975715] Chr15:79896905 [GRCh38]
Chr15:80189247 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.88C>T (p.Leu30=) single nucleotide variant not provided [RCV002909949] Chr15:79896901 [GRCh38]
Chr15:80189243 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.22A>G (p.Ser8Gly) single nucleotide variant not specified [RCV004177145] Chr15:79896967 [GRCh38]
Chr15:80189309 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.71T>C (p.Met24Thr) single nucleotide variant not provided [RCV002847555] Chr15:79896918 [GRCh38]
Chr15:80189260 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.320C>T (p.Thr107Ile) single nucleotide variant not provided [RCV002927655] Chr15:79889152 [GRCh38]
Chr15:80181494 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.28A>C (p.Lys10Gln) single nucleotide variant not provided [RCV002796799] Chr15:79896961 [GRCh38]
Chr15:80189303 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.378A>G (p.Thr126=) single nucleotide variant not provided [RCV002979374] Chr15:79889094 [GRCh38]
Chr15:80181436 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.359G>A (p.Arg120Gln) single nucleotide variant not provided [RCV003008359] Chr15:79889113 [GRCh38]
Chr15:80181455 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.604A>G (p.Thr202Ala) single nucleotide variant not provided [RCV002890631] Chr15:79845218 [GRCh38]
Chr15:80137560 [GRCh37]
Chr15:15q25.1		 benign
NM_006441.4(MTHFS):c.283A>G (p.Ile95Val) single nucleotide variant not provided [RCV002765623] Chr15:79889189 [GRCh38]
Chr15:80181531 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.117+12C>T single nucleotide variant not provided [RCV002741134] Chr15:79896860 [GRCh38]
Chr15:80189202 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.355G>C (p.Val119Leu) single nucleotide variant not provided [RCV002958768] Chr15:79889117 [GRCh38]
Chr15:80181459 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.605C>T (p.Thr202Ile) single nucleotide variant not provided [RCV003023472] Chr15:79845217 [GRCh38]
Chr15:80137559 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.251G>A (p.Arg84Gln) single nucleotide variant not provided [RCV002967348]|not specified [RCV004068319] Chr15:79889221 [GRCh38]
Chr15:80181563 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_006441.4(MTHFS):c.172A>G (p.Met58Val) single nucleotide variant not provided [RCV002597772] Chr15:79889300 [GRCh38]
Chr15:80181642 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.380-5C>T single nucleotide variant not provided [RCV002922606] Chr15:79845447 [GRCh38]
Chr15:80137789 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.564C>T (p.Asn188=) single nucleotide variant not provided [RCV002601588] Chr15:79845258 [GRCh38]
Chr15:80137600 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.293C>T (p.Pro98Leu) single nucleotide variant not provided [RCV003090933] Chr15:79889179 [GRCh38]
Chr15:80181521 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.335C>T (p.Pro112Leu) single nucleotide variant not provided [RCV003087381] Chr15:79889137 [GRCh38]
Chr15:80181479 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.565G>A (p.Asp189Asn) single nucleotide variant not provided [RCV002746337] Chr15:79845257 [GRCh38]
Chr15:80137599 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.36C>A (p.Ser12Arg) single nucleotide variant not provided [RCV002943872] Chr15:79896953 [GRCh38]
Chr15:80189295 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.118-18C>T single nucleotide variant not provided [RCV003052191] Chr15:79889372 [GRCh38]
Chr15:80181714 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.150A>G (p.Lys50=) single nucleotide variant MTHFS-related disorder [RCV003973641]|not provided [RCV003071193] Chr15:79889322 [GRCh38]
Chr15:80181664 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.377C>T (p.Thr126Ile) single nucleotide variant not provided [RCV002943362] Chr15:79889095 [GRCh38]
Chr15:80181437 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_001199760.2(ST20-MTHFS):c.173G>A (p.Arg58Gln) single nucleotide variant not specified [RCV004261886] Chr15:79889227 [GRCh38]
Chr15:80181569 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_006441.4(MTHFS):c.95A>T (p.Gln32Leu) single nucleotide variant not specified [RCV004273537] Chr15:79896894 [GRCh38]
Chr15:80189236 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_006441.4(MTHFS):c.13G>T (p.Ala5Ser) single nucleotide variant not specified [RCV004249150] Chr15:79896976 [GRCh38]
Chr15:80189318 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_006441.4(MTHFS):c.516G>C (p.Ala172=) single nucleotide variant not provided [RCV003580288] Chr15:79845306 [GRCh38]
Chr15:80137648 [GRCh37]
Chr15:15q25.1		 likely benign
NM_006441.4(MTHFS):c.10_25dup (p.Ala9fs) duplication Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination [RCV004765952]|not provided [RCV003707359] Chr15:79896963..79896964 [GRCh38]
Chr15:80189305..80189306 [GRCh37]
Chr15:15q25.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:505
Count of miRNA genes:401
Interacting mature miRNAs:426
Transcripts:ENST00000258874, ENST00000559722, ENST00000560261, ENST00000560919
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406942769GWAS591745_H5-formyltetrahydrofolate cyclo-ligase measurement QTL GWAS591745 (human)3e-1085-formyltetrahydrofolate cyclo-ligase measurement157989688879896889Human
406920352GWAS569328_Hleptin measurement QTL GWAS569328 (human)0.000006leptin measurementblood leptin level (CMO:0000779)157988204679882047Human
406979041GWAS628017_Hpars opercularis volume measurement QTL GWAS628017 (human)0.000008frontal lobe morphology trait (VT:0000798)157984946479849465Human
407202134GWAS851110_Hblood protein measurement QTL GWAS851110 (human)3e-24blood protein measurementblood protein measurement (CMO:0000028)157989688879896889Human
407193942GWAS842918_Hblood protein measurement QTL GWAS842918 (human)2e-31blood protein measurementblood protein measurement (CMO:0000028)157989718179897182Human
407148019GWAS796995_HNG-monomethyl-arginine measurement QTL GWAS796995 (human)0.000002NG-monomethyl-arginine measurement157985809579858096Human
407146252GWAS795228_Hasymmetric dimethylarginine measurement QTL GWAS795228 (human)0.000008asymmetric dimethylarginine measurementblood asymmetric dimethylarginine level (CMO:0003732)157985809579858096Human

Markers in Region
WI-20294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,137,320 - 80,137,618UniSTSGRCh37
Build 361577,924,375 - 77,924,673RGDNCBI36
Celera1557,073,630 - 57,073,928RGD
Cytogenetic Map15q25.1UniSTS
HuRef1556,895,438 - 56,895,736UniSTS
GeneMap99-GB4 RH Map15277.54UniSTS
Whitehead-RH Map15301.9UniSTS
NCBI RH Map15528.8UniSTS
RH78912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,137,331 - 80,137,496UniSTSGRCh37
Build 361577,924,386 - 77,924,551RGDNCBI36
Celera1557,073,641 - 57,073,806RGD
Cytogenetic Map15q25.1UniSTS
HuRef1556,895,449 - 56,895,614UniSTS
GeneMap99-GB4 RH Map15280.77UniSTS
NCBI RH Map15528.8UniSTS
RH77833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,135,965 - 80,136,207UniSTSGRCh37
Build 361577,923,020 - 77,923,262RGDNCBI36
Celera1557,072,275 - 57,072,517RGD
Cytogenetic Map15q25.1UniSTS
HuRef1556,894,083 - 56,894,325UniSTS
GeneMap99-GB4 RH Map15278.06UniSTS
NCBI RH Map15528.8UniSTS
RH17648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,137,546 - 80,137,676UniSTSGRCh37
Build 361577,924,601 - 77,924,731RGDNCBI36
Celera1557,073,856 - 57,073,986RGD
Cytogenetic Map15q25.1UniSTS
HuRef1556,895,664 - 56,895,794UniSTS
GeneMap99-GB4 RH Map15276.09UniSTS
MTHFS_(-475A>C)  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,189,132 - 80,189,985UniSTSGRCh37
Celera1557,125,438 - 57,126,291UniSTS
HuRef1556,947,228 - 56,948,081UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2250 4968 1726 2351 5 624 1948 465 2268 7294 6463 53 3731 1 850 1740 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM313547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM450865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB995322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK905549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB464304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000258874   ⟹   ENSP00000258874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1579,843,547 - 79,897,014 (-)Ensembl
Ensembl Acc Id: ENST00000559722   ⟹   ENSP00000489076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1579,844,976 - 79,897,379 (-)Ensembl
Ensembl Acc Id: ENST00000560261   ⟹   ENSP00000454318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1579,833,585 - 79,845,327 (-)Ensembl
Ensembl Acc Id: ENST00000560919   ⟹   ENSP00000454626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1579,889,092 - 79,896,997 (-)Ensembl
RefSeq Acc Id: NM_001199758   ⟹   NP_001186687
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,843,547 - 79,897,285 (-)NCBI
GRCh371580,135,889 - 80,189,627 (-)ENTREZGENE
HuRef1556,894,007 - 56,947,724 (-)ENTREZGENE
CHM1_11580,252,880 - 80,306,583 (-)NCBI
T2T-CHM13v2.01577,706,557 - 77,760,238 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006441   ⟹   NP_006432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,843,547 - 79,897,014 (-)NCBI
GRCh371580,135,889 - 80,189,627 (-)ENTREZGENE
Build 361577,924,373 - 77,976,425 (-)NCBI Archive
HuRef1556,894,007 - 56,947,724 (-)ENTREZGENE
CHM1_11580,252,880 - 80,306,346 (-)NCBI
T2T-CHM13v2.01577,706,557 - 77,759,966 (-)NCBI
Sequence:
RefSeq Acc Id: NR_037654
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,843,547 - 79,897,014 (-)NCBI
GRCh371580,135,889 - 80,189,627 (-)ENTREZGENE
HuRef1556,894,007 - 56,947,724 (-)ENTREZGENE
CHM1_11580,252,880 - 80,306,294 (-)NCBI
T2T-CHM13v2.01577,706,557 - 77,759,966 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001186687   ⟸   NM_001199758
- Peptide Label: isoform b
- UniProtKB: P49914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006432   ⟸   NM_006441
- Peptide Label: isoform a
- UniProtKB: H3BQ75 (UniProtKB/Swiss-Prot),   P49914 (UniProtKB/Swiss-Prot),   Q96EE9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000489076   ⟸   ENST00000559722
Ensembl Acc Id: ENSP00000258874   ⟸   ENST00000258874
Ensembl Acc Id: ENSP00000454318   ⟸   ENST00000560261
Ensembl Acc Id: ENSP00000454626   ⟸   ENST00000560919

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49914-F1-model_v2 AlphaFold P49914 1-203 view protein structure

Promoters
RGD ID:6792462
Promoter ID:HG_KWN:22072
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:OTTHUMT00000291374
Position:
Human AssemblyChrPosition (strand)Source
Build 361577,976,146 - 77,976,697 (-)MPROMDB
RGD ID:7230265
Promoter ID:EPDNEW_H20879
Type:initiation region
Name:MTHFS_3
Description:methenyltetrahydrofolate synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20880  EPDNEW_H20881  EPDNEW_H20882  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,845,375 - 79,845,435EPDNEW
RGD ID:7230269
Promoter ID:EPDNEW_H20880
Type:initiation region
Name:MTHFS_4
Description:methenyltetrahydrofolate synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20879  EPDNEW_H20881  EPDNEW_H20882  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,889,091 - 79,889,151EPDNEW
RGD ID:7230271
Promoter ID:EPDNEW_H20881
Type:initiation region
Name:MTHFS_1
Description:methenyltetrahydrofolate synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20879  EPDNEW_H20880  EPDNEW_H20882  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,897,002 - 79,897,062EPDNEW
RGD ID:7230275
Promoter ID:EPDNEW_H20882
Type:initiation region
Name:MTHFS_2
Description:methenyltetrahydrofolate synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20879  EPDNEW_H20880  EPDNEW_H20881  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381579,897,336 - 79,897,396EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7437 AgrOrtholog
COSMIC MTHFS COSMIC
Ensembl Genes ENSG00000136371 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258874 ENTREZGENE
  ENST00000258874.4 UniProtKB/Swiss-Prot
  ENST00000559722.2 UniProtKB/TrEMBL
  ENST00000560261.1 UniProtKB/TrEMBL
  ENST00000560919.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136371 GTEx
HGNC ID HGNC:7437 ENTREZGENE
Human Proteome Map MTHFS Human Proteome Map
InterPro FTHF_cligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FTHF_cligase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NagB/RpiA_transferase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10588 UniProtKB/Swiss-Prot
NCBI Gene 10588 ENTREZGENE
OMIM 604197 OMIM
PANTHER ATPASE INHIBITOR/5-FORMYLTETRAHYDROFOLATE CYCLO-LIGASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23407:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 5-FTHF_cyc-lig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MTHFS RGD, PharmGKB
PIRSF FTHF_cligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF100950 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQM3_HUMAN UniProtKB/TrEMBL
  H3BMB9_HUMAN UniProtKB/TrEMBL
  H3BN04_HUMAN UniProtKB/TrEMBL
  H3BQ75 ENTREZGENE
  MTHFS_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96EE9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary H3BQ75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-10 MTHFS  methenyltetrahydrofolate synthetase    5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)  Symbol and/or name change 5135510 APPROVED