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MTHFD2 Gene

protein-coding GIFtS: 61
GCID: GC02P074425

Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent)...

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2, Methenyltetrahydrofolate Cyclohydrolase¹ ²
NMDMC² ³
Bifunctional Methylenetetrahydrofolate Dehydrogenase/Cyclohydrolase, Mitochondrial²
NAD-Dependent Methylene Tetrahydrofolate Dehydrogenase Cyclohydrolase²

External Ids:	HGNC: 7434¹	Entrez Gene: 10797²	Ensembl: ENSG00000065911⁷	OMIM: 604887⁵	UniProtKB: P13995³

Export aliases for MTHFD2 gene to outside databases

Previous GC identifers: GC02P074563 GC02P074638 GC02P074383 GC02P074400 GC02P074337 GC02P074095 GC02P074161

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MTHFD2 Gene:

This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase

and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its

absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows

binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not

protein-coding. This gene has a pseudogene on chromosome 7. (provided by RefSeq, Mar 2009)

GeneCards Summary for MTHFD2 Gene:

MTHFD2 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase) is a protein-coding gene. Diseases associated with MTHFD2 include spina bifida, and follicular lymphoma. GO annotations related to this gene include formate-tetrahydrofolate ligase activity and magnesium ion binding. An important paralog of this gene is MTHFD2L.

Gene Wiki entry for MTHFD2 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000002.12 NT_022184.16 NC_018913.2

Regulatory elements:

Regulatory transcription factor binding sites in the MTHFD2 gene promoter:
C/EBPbeta p53 NF-YA YY1 NF-YB CBF-B CBF-A CP1A NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MTHFD2 promoter sequence

Search Chromatin IP Primers for MTHFD2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTHFD2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.1 Ensembl cytogenetic band: 2p13.1 HGNC cytogenetic band: 2p13.1

MTHFD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTHFD2 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P074425: view genomic region (about GC identifiers)

Start:	74,425,689 bp from pter	End:	74,444,692 bp from pter
Size:	19,004 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MTDC_HUMAN, P13995 (See protein sequence)

Recommended Name: Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial precursor

Size: 350 amino acids; 37895 Da

Cofactor: Magnesium

Subunit: Homodimer

Developmental stage: Expressed only in developing normal tissues

Miscellaneous: This NAD-dependent bifunctional enzyme has very different kinetic properties than the larger

NADP-dependent trifunctional enzyme and is unique in that it requires formation of an enzyme-magnesium complex to

allow binding of NAD

Sequence caution: Sequence=AAX93061.1; Type=Erroneous initiation; Sequence=BAD96546.1; Type=Erroneous initiation;

Sequence=BAD96761.1; Type=Erroneous initiation; Sequence=CAA34431.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for MTHFD2:

1ZN4 (3D)

Secondary accessions: Q53G90 Q53GV5 Q53S36

Explore the universe of human proteins at neXtProt for MTHFD2: NX_P13995

Explore proteomics data for MTHFD2 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See MTHFD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006627.2

ENSEMBL proteins:

ENSP00000377617 ENSP00000386536 ENSP00000419067 ENSP00000419550 ENSP00000386542

ENSP00000264090 ENSP00000377614

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5 InterPro protein domains:

IPR020631 THF_DH/CycHdrlase_NAD-bd_dom

IPR020630 THF_DH/CycHdrlase_cat_dom

IPR020867 THF_DH/CycHdrlase_CS

IPR016040 NAD(P)-bd_dom

IPR000672 THF_DH/CycHdrlase

Graphical View of Domain Structure for InterPro Entry P13995

ProtoNet protein and cluster: P13995

1 Blocks protein domain: IPB000672 Tetrahydrofolate dehydrogenase/cyclohydrolase

UniProtKB/Swiss-Prot: MTDC_HUMAN, P13995

Similarity: Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family

MTHFD2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: MTDC_HUMAN, P13995

Catalytic activity: 5,10-methylenetetrahydrofolate + NAD(+) = 5,10-methenyltetrahydrofolate + NADH

Catalytic activity: 5,10-methenyltetrahydrofolate + H(2)O = 10-formyltetrahydrofolate

Gene Ontology (GO): Selected molecular function terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IDA	8218174
GO:0003824	catalytic activity	--	--
GO:0004329	NOT formate-tetrahydrofolate ligase activity	IBA	--
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	ISS	8218174
GO:0004487	methylenetetrahydrofolate dehydrogenase (NAD+) activity	IDA	8218174

MTHFD2 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for MTHFD2:

Decreased TP53 protein express

Decreased number of cells in m

Increased G1 DNA content

4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mthfd2):

embryogenesis

growth/size/body

liver/biliary system

mortality/aging

MTHFD2 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Mthfd2^tm1Rmk for MTHFD2

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFD2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

MTDC_HUMAN, P13995: Mitochondrion

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
cytosol	2

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IDA	--
GO:0005739	mitochondrion	ISS	8218174
GO:0005829	NOT cytosol	IBA	--

MTHFD2 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for MTHFD2 About

See pathways by source

SuperPath

Contained pathways About

One carbon pool by folate

	One carbon pool by folate	0.53			Trans-sulfuration and one carbon metabolism	0.43
	One Carbon Metabolism	0.53

folate polyglutamylation

folate transformations

0.43

Metabolism

Metabolic pathways

0.38

Nucleotide Metabolism

Nucleotide Metabolism

Pathways by source See SuperPaths
Show all pathways

4 BioSystems Pathways for MTHFD2

	One Carbon Metabolism
	folate transformations
	Nucleotide Metabolism
	Trans-sulfuration and one carbon metabolism

2 Kegg Pathways (Kegg details for MTHFD2):

	One carbon pool by folate
	Metabolic pathways

MTHFD2 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for MTHFD2
Interactions:

Search GeneGlobe Interaction Network for MTHFD2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for MTHFD2 (P13995^{1, 3} ENSP00000377617⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 53)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PSMD13	Q9UNM6¹^,³, ENSP00000396937⁴	EBI-1058895,EBI-356070 I2D: score=2 STRING: ENSP00000396937
PARP3	Q9Y6F1¹^,³, ENSP00000381740⁴	EBI-1058895,EBI-1045281 I2D: score=2 STRING: ENSP00000381740
MINOS1	Q5TGZ0³, ENSP00000325562⁴	I2D: score=1 STRING: ENSP00000325562
BECN1	Q14457³	I2D: score=1
CAMKK2	Q96RR4³	I2D: score=1

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Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006730	one-carbon metabolic process	IBA	--
GO:0009396	folic acid-containing compound biosynthetic process	IEA	--
GO:0009408	response to heat	--	--
GO:0046653	tetrahydrofolate metabolic process	IDA	8218174
GO:0055114	oxidation-reduction process	--	--

MTHFD2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

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Browse compounds at ApexBio

Browse Tocris compounds for MTHFD2 (MTDC)

Selected HMDB Compounds for MTHFD2 (see all 13) About this table

Compound	Synonyms	CAS #	PubMed Ids
5,10-Methenyltetrahydrofolic acid	5,10-Methenyltetrahydrofolate (see all 13)	7444-29-3	--
5,10-Methylene-THF	5,10-methylene-THF (see all 8)	31690-11-6	--
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Formic acid	Add-F (see all 21)	64-18-6	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
N10-Formyl-THF	10-formyl-THF (see all 20)	2800-34-2	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--

2 DrugBank Compounds for MTHFD2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423
Tetrahydrofolic acid	5,6,7,8-tetrahydrofolate (see all 3)	135-16-0	target	cofactor	12949177

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for MTHFD2 gene (2 alternative transcripts):

NM_006636.3 NM_001040409.1

Unigene Cluster for MTHFD2:

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase

Hs.469030 [show with all ESTs]

Unigene Representative Sequence: NR_027405

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000394053(uc002skj.3 uc002skk.3 uc010yro.2 uc010yrp.2)

ENST00000409804 ENST00000470592 ENST00000477455 ENST00000489041 ENST00000409601

ENST00000488086 ENST00000462026 ENST00000264090 ENST00000394050

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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		Selected qRT-PCR Assays for microRNAs that regulate MTHFD2 (see all 27):
		hsa-miR-100* hsa-miR-509-5p hsa-miR-25 hsa-miR-4299 hsa-miR-373* hsa-miR-4275 hsa-miR-9 hsa-miR-34b

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Additional mRNA sequence:

AK130664.1 AK222826.1 AK223041.1 AK300035.1 AK302245.1 AK313138.1 BC001548.1 BC015062.1

BC017054.1 NR_027405.1 X16396.1

18 DOTS entries:

DT.109844 DT.100844953 DT.92451858 DT.445439 DT.100729969 DT.120983537 DT.91740301 DT.100844949

DT.120983650 DT.95256889 DT.120983571 DT.120983690 DT.120983689 DT.100844946 DT.100729968 DT.100844952

DT.40248332 DT.92451855

Selected AceView cDNA sequences (see all 570):

AA312596 BQ932744 BM907409 BQ646929 BU153114 AU122231 BQ643760 AI423141

BM983261 BX341613 AA743094 BM989251 AI762124 BU190182 CA487882 AI368178

BQ642241 AA343955 AI683945 BQ434579 AU117473 BM471568 BQ082038 BQ437224

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD2 (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	^	9a	·	9b	·	9c	·	9d	^	10	^	11a	·	11b	·	11c
SP1:							-						-		-		-
SP2:													-		-		-
SP3:							-		-		-		-		-		-
SP4:							-						-		-		-						-		-		-
SP5:

ECgene alternative splicing isoforms for MTHFD2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MTHFD2 expression in normal human tissues (normalized intensities) MTHFD2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGTGTTGTCA

About this image

MTHFD2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Brain (Nervous System) fully expand to see all 5 entries
Cerebral Cortex

Lung (Respiratory System) fully expand to see all 2 entries
Basal Cells Respiratory Bronchioles
Trachea

Neural Tube (Nervous System) fully expand to see all 2 entries
Telencephalon

Thymus (Hematopoietic System)
Thymus

NULL (Uncategorized)
Mesenchymal Progenitor Cells - Passage 2

MTHFD2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

MTHFD2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.469030

Custom PCR Arrays for MTHFD2

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFD2 gene from Selected species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mthfd2^{1 , 5}	methylenetetrahydrofolate dehydrogenase (NAD+ dependent), more^{1, 5}	85.62(n)¹ 92(a)¹		6 (35.94 cM)⁵ 17768¹ NM_008638.2¹ NP_032664.1¹ 83305691⁵
chicken (Gallus gallus)	Aves	MTHFD2¹	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more	77.53(n) 85.58(a)		426126 NM_001031360.1 NP_001026531.1
lizard (Anolis carolinensis)	Reptilia	--	--	80(a)	many ↔ many	GL343968.1(97529-109776)
African clawed frog (Xenopus laevis)	Amphibia	CA988172.1²	--	75.59(n)		CA988172.1
zebrafish (Danio rerio)	Actinopterygii	57054755²	--	74.9(n)		57054755
fruit fly (Drosophila melanogaster)	Insecta	Nmdmc^{1 , 3}	methenyltetrahydrofolate cyclohydrolase³ NAD-dependent methylenetetrahydrofolate dehydrogenase¹	56(a)³ 57.21(n)¹ 57.43(a)¹		85C3³ 47895¹ NM_057581.5¹ NP_476929.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ADE3⁶	Cytoplasmic trifunctional enzyme C1-tetrahydrofola...	13(a)	1 → many	VII(905934-908774) YGR204W
soybean (Glycine max)	eudicotyledons	BM091952.1²	--	75.39(n)		BM091952.1
rice (Oryza sativa)	Liliopsida	Os.7067²	Oryza sativa (japonica cultivar-group) cDNA clone0 more	76.46(n)		AK059603.1

ENSEMBL Gene Tree for MTHFD2 (if available)
TreeFam Gene Tree for MTHFD2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for MTHFD2 gene

MTHFD2L² MTHFD1² MTHFD1L²

4 SIMAP similar genes for MTHFD2 using alignment to 7 protein entries: MTDC_HUMAN (see all proteins):

tmp_locus_16 MTHFD2L MTHFD1 MTHFD1L

MTHFD2 for paralogs About GeneDecksing

Selected Pseudogenes.org Pseudogenes for MTHFD2 (see all 8)
PGOHUM00000258715 PGOHUM00000237687 PGOHUM00000238276 PGOHUM00000259960 PGOHUM00000235204

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs151037904^1,2	C	--	74294950(+)	`CATTA-/TTTTTT`	2	--	us2k¹		0	--	--	--	--
rs74894501^1,2	C,F	--	74295146(+)	`GAAGCA/GAGAAA`	2	--	us2k¹		1		EA	120
rs145063780^1,2	C	--	74295153(+)	`AAAGA-/GGAAAA`	2	--	us2k¹		0	--	--	--	--
rs184621733^1,2		--	74295169(+)	`AAGACA/GAAAAG`	2	--	us2k¹		0	--	--	--	--
rs77886615^1,2	F	--	74295230(+)	`CTAGGC/ATCCTT`	2	--	us2k¹		1		NA	120
rs189183485^1,2		--	74295273(+)	`CATGGC/TCTTGG`	2	--	us2k¹		0	--	--	--	--
rs181685071^1,2		--	74295351(+)	`TTGTGA/GATAGA`	2	--	us2k¹		0	--	--	--	--
rs186735791^1,2		--	74295405(+)	`TTCCTA/GGACAG`	2	--	us2k¹		0	--	--	--	--
rs191178322^1,2		--	74295485(+)	`ACTCAC/TTGGTT`	2	--	us2k¹		0	--	--	--	--
rs12618665^1,2	C,H	--	74295493(+)	`GTTTAG/AGAAAA`	2	--	us2k¹		5		NS EA NA	420

HapMap Linkage Disequilibrium report for MTHFD2 (74425689 - 74444692 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for MTHFD2: About this table

Variant ID	Type	Subtype	PubMed ID
nsv874286	CNV	Loss	21882294
nsv834261	CNV	Loss	17160897

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 604887 OMIM disorders: --

18 diseases for MTHFD2: About MalaCards

spina bifida follicular lymphoma diffuse large b-cell lymphoma lung cancer susceptibility

b-cell lymphomas intrahepatic cholangiocarcinoma cholangiocarcinoma bronchiolitis

pneumonia esophagitis tuberculosis lung cancer

adenocarcinoma endotheliitis malaria cerebritis

prostatitis breast cancer

MTHFD2 for disorders About GeneDecksing

Genetic Association Database (GAD): MTHFD2
Human Genome Epidemiology (HuGE) Navigator: MTHFD2 (16 documents)

Export disorders for MTHFD2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MTHFD2 gene, integrated from 10 sources (see all 45):
(articles sorted by number of sources associating them with MTHFD2)

Utopia: connect your pdf to the dynamic
world of online information

Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase. (PubMed id 2587219)^{1, 2, 3} Peri K.G.... Mackenzie R.E. (Nucleic Acids Res. 1989)
A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)^{1, 4} Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)^{1, 4} Guey L.T....Malats N. (Eur. Urol. 2010)
Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)^{1, 4} Jugessur A....Murray J.C. (PLoS ONE 2010)
An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)^{1, 4} Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. (PubMed id 18830263)^{1, 4} Wang S.S....Cerhan J.R. (Leukemia 2009)
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. (PubMed id 19493349)^{1, 4} Shaw G.M....Finnell R.H. (BMC Med. Genet. 2009)
PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)^{1, 4} Hosgood H.D....Lan Q. (Respir Med 2009)
Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. (PubMed id 19048631)^{1, 4} Boyles A.L....Lie R.T. (Genet. Epidemiol. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10797	HGNC: 7434	AceView: MTHFD2	Ensembl:ENSG00000065911	euGenes: HUgn10797
ECgene: MTHFD2	Kegg: 10797	H-InvDB: MTHFD2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MTHFD2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MTHFD2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MTHFD2 gene:
Search GeneIP for patents involving MTHFD2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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