MTHFS (methenyltetrahydrofolate synthetase) - Rat Genome Database

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Gene: MTHFS (methenyltetrahydrofolate synthetase) Homo sapiens
Analyze
Symbol: MTHFS
Name: methenyltetrahydrofolate synthetase
RGD ID: 1315743
HGNC Page HGNC
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
Also 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
Dog
Squirrel
Pig
Naked Mole-Rat
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 Ensembl1579,833,585 - 79,897,379 (-)EnsemblGRCh38hg38GRCh38
GRCh381579,843,547 - 79,897,285 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371580,135,889 - 80,189,627 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361577,924,373 - 77,976,425 (-)NCBINCBI36hg18NCBI36
Build 341577,924,374 - 77,976,395NCBI
Celera1557,073,628 - 57,125,676 (-)NCBI
Cytogenetic Map15q25.1NCBI
HuRef1556,894,007 - 56,947,724 (-)NCBIHuRef
CHM1_11580,252,880 - 80,306,583 (-)NCBICHM1_1
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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

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  


Genomics

Comparative Map Data
MTHFS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1579,833,585 - 79,897,379 (-)EnsemblGRCh38hg38GRCh38
GRCh381579,843,547 - 79,897,285 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371580,135,889 - 80,189,627 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361577,924,373 - 77,976,425 (-)NCBINCBI36hg18NCBI36
Build 341577,924,374 - 77,976,395NCBI
Celera1557,073,628 - 57,125,676 (-)NCBI
Cytogenetic Map15q25.1NCBI
HuRef1556,894,007 - 56,947,724 (-)NCBIHuRef
CHM1_11580,252,880 - 80,306,583 (-)NCBICHM1_1
Mthfs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39989,093,243 - 89,122,278 (+)NCBIGRCm39mm39
GRCm39 Ensembl989,092,729 - 89,259,766 (+)Ensembl
GRCm38989,211,190 - 89,240,225 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl989,210,676 - 89,377,713 (+)EnsemblGRCm38mm10GRCm38
MGSCv37989,106,028 - 89,135,063 (+)NCBIGRCm37mm9NCBIm37
MGSCv36989,009,083 - 89,038,118 (+)NCBImm8
Celera988,839,126 - 88,843,217 (+)NCBICelera
Celera987,292,813 - 87,293,205 (+)NCBICelera
Cytogenetic Map9E3.1NCBI
Mthfs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2889,729,498 - 89,801,998 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl896,564,877 - 96,614,348 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0896,564,877 - 96,614,386 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0896,071,796 - 96,121,086 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4894,058,605 - 94,108,277 (+)NCBIRGSC3.4rn4RGSC3.4
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
ChiLan1.0NW_004955533720,255 - 756,893 (-)NCBIChiLan1.0ChiLan1.0
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 (+)NCBI
ROS_Cfam_1.0357,913,790 - 57,950,014 (+)NCBI
UMICH_Zoey_3.1357,413,049 - 57,447,505 (+)NCBI
UNSW_CanFamBas_1.0357,620,059 - 57,654,466 (+)NCBI
UU_Cfam_GSD_1.0357,967,073 - 58,003,248 (+)NCBI
Mthfs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640119,976,748 - 120,116,548 (-)NCBI
SpeTri2.0NW_00493647137,910,856 - 37,964,655 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC102167410
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 (-)NCBI

Position Markers
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

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.


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 1489 1829 1629 544 1254 436 1850 735 1677 342 1118 1447 118 1095 1128
Low 947 1157 96 80 693 29 2505 1453 2037 77 336 162 54 1 109 1660 5 2
Below cutoff 3 1 1 7 17 2 3 2

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
  DB464304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000258874   ⟹   ENSP00000258874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1579,843,547 - 79,897,014 (-)Ensembl
RefSeq Acc Id: ENST00000559722   ⟹   ENSP00000489076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1579,844,976 - 79,897,379 (-)Ensembl
RefSeq Acc Id: ENST00000560261   ⟹   ENSP00000454318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1579,833,585 - 79,845,327 (-)Ensembl
RefSeq Acc Id: ENST00000560919   ⟹   ENSP00000454626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
Sequence:
Reference Sequences
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: P49914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000489076   ⟸   ENST00000559722
RefSeq Acc Id: ENSP00000258874   ⟸   ENST00000258874
RefSeq Acc Id: ENSP00000454318   ⟸   ENST00000560261
RefSeq Acc Id: ENSP00000454626   ⟸   ENST00000560919

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

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_001199758.1(MTHFS):c.313C>T (p.Gln105Ter) 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_001199758.1(MTHFS):c.263G>A (p.Arg88Gln) single nucleotide variant Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination [RCV000766130] 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_001199758.1(MTHFS):c.-55+279T>C 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 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

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 Protein ENSP00000258874 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454318 UniProtKB/TrEMBL
  ENSP00000454626 UniProtKB/TrEMBL
  ENSP00000489076 UniProtKB/TrEMBL
Ensembl Transcript ENST00000258874 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000559722 UniProtKB/TrEMBL
  ENST00000560261 UniProtKB/TrEMBL
  ENST00000560919 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
  618367 OMIM
PANTHER 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
TIGRFAMs MTHFS_bact UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQM3_HUMAN UniProtKB/TrEMBL
  H3BMB9_HUMAN UniProtKB/TrEMBL
  H3BN04_HUMAN UniProtKB/TrEMBL
  MTHFS_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96EE9_HUMAN 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