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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MTHFD2 Gene

protein-coding GIFtS: 61
GCID: GC02P074425

methylenetetrahydrofolate dehydrogenase (NADP+ dependent)...

Explore 14 diseases affiliated with
MTHFD2 via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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

ORGUL members:
	NONCODE:n407850

Export aliases for MTHFD2 gene to outside databases

Previous GC identifers: GC02P074563 GC02P074638 GC02P074383 GC02P074400 GC02P074337 GC02P074095 GC02P074161

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTHFD2:

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)

Gene Wiki entry for MTHFD2

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for MTHFD2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Subcellular location: Mitochondrion

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13995

MTHFD2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006627.2

ENSEMBL proteins:

ENSP00000377617 ENSP00000386536 ENSP00000419067 ENSP00000419550 ENSP00000386542

ENSP00000264090 ENSP00000377614

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	Novus Biologicals MTHFD2 Protein Novus Biologicals MTHFD2 Lysates
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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MTHFD2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

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

MTHFD2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MTHFD2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MTHFD2 for domains About GeneDecksing

5 InterPro domains/families:

IPR020631 THF_DH/CycHdrlase_NAD-bd_dom

IPR016040 NAD(P)-bd_dom

IPR000672 THF_DH/CycHdrlase

IPR020630 THF_DH/CycHdrlase_cat_dom

IPR020867 THF_DH/CycHdrlase_CS

Graphical View of Domain Structure for InterPro Entry P13995

ProtoNet protein and cluster: P13995

1 Blocks protein family: IPB000672 Tetrahydrofolate dehydrogenase/cyclohydrolase

UniProtKB/Swiss-Prot: MTDC_HUMAN, P13995

Similarity: Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MTDC_HUMAN, P13995

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

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

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		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

		SwitchGear 3'UTR luciferase reporter plasmid: MTHFD2 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFD2

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IDA	8218174
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

3 GenomeRNAi human phenotypes for MTHFD2:

Decreased TP53 protein express

Decreased number of cells in m

Increased G1 DNA content

Animal Models:
Mouse knock-out Mthfd2^tm1Rmk for MTHFD2
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mthfd2):

embryogenesis

growth/size

liver/biliary system

mortality/aging

MTHFD2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

One Carbon Metabolism

One Carbon Metabolism

1.00

One carbon pool by folate

0.52

tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate

tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate

1.00

Nucleotide Metabolism

Nucleotide Metabolism

1.00

Histidine catabolism

histidine degradation III

0.57

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

5 BioSystems Pathways for MTHFD2

	One Carbon Metabolism
	tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate
	Nucleotide Metabolism
	histidine degradation III
	folate transformations I

2 Kegg Pathways (Kegg details for MTHFD2):

	One carbon pool by folate
	Metabolic pathways

MTHFD2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MTHFD2

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/26 Interacting proteins for MTHFD2 (P13995^{1, 3} ENSP00000377617⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

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

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): 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	IEA	--
GO:0046653	tetrahydrofolate metabolic process	IDA	8218174

MTHFD2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MTHFD2

10/13 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

Search CenterWatch for drugs/clinical trials and news about MTHFD2 / MTDC

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

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		8/27 QIAGEN miScript miRNA 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

		SwitchGear 3'UTR luciferase reporter plasmid: MTHFD2 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTHFD2

Additional cDNA 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

24/570 AceView cDNA sequences (see all 570):

BQ646929 BQ643760 BU153114 AA868173 BQ932744 AA551270 AU122231 BM907409

AL560188 BG758477 AA312596 AI423141 BM983261 BX341613 AA743094 BM989251

AI762124 BU190182 AI368178 CA487882 BQ642241 AA343955 AI683945 BQ434579

GeneLoc Exon Structure

5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MTHFD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTGTTGTCA

About this image

MTHFD2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MTHFD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MTHFD2

SOURCE GeneReport for Unigene cluster: Hs.469030

SABiosciences Custom PCR Arrays for MTHFD2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFD2

(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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for MTHFD2 gene from 9/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MTHFD2¹	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more	77.71(n) 86.12(a)		426126 NM_001031360.1 NP_001026531.1
lizard (Anolis carolinensis)	Reptilia	MTHFD2⁶	--	80(a)	1 ↔ 1	GL343968.1(97529-105882)
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_057581.4¹ NP_476929.1¹
worm (Caenorhabditis elegans)	Secernentea	dao-3⁶	Dauer or Aging adult Overexpression family member ...	37(a)	possible ortholog	X(8084159-8086501)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G12290⁶ AT4G00620⁶ (see all 4)	Amino acid dehydrogenase family protein (see all 4)	45(a) 39(a) (see all 4)	possible ortholog possible ortholog (see all 4)	3(3919502-3921519) 4(259028-261019)
rice (Oryza sativa)	Liliopsida	Os.7067²	Oryza sativa (japonica cultivar-group) cDNA clone0 more	76.46(n)		AK059603.1
E. coli (Escherichia coli)	Gamma proteobacteria	folD⁶	bifunctional 5,10-methylene-tetrahydrofolate dehyd...	48(a)	1 → many	Chromosome(556098-556964)

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)
About This Section

Paralogs for MTHFD2 gene

MTHFD2L²

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

5/8 Pseudogenes.org Pseudogenes for MTHFD2 (see all 8)
PGOHUM00000258715 PGOHUM00000237687 PGOHUM00000238276 PGOHUM00000259960 PGOHUM00000235204

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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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
				--	--	--		--	--
rs77886615^1,2	F,	--	74160261(+)	`CTAGGC/ATCCTT`	2	--	us2k¹		1		NA	120
rs12618665^1,2	C,H	--	74160524(+)	`GTTTAG/AGAAAA`	2	--	us2k¹		5		NS EA NA	420
rs111232091^1,2		--	74161452(+)	`GCGCCG/TTCAGC`	2	--	us2k¹		1		CSA	2
rs6744123^1,2	C,A,	--	74161462(+)	`ctcacT/Ggcagc`	2	--	us2k¹		2		CSA WA	120
rs62147679^1,2		--	74161702(+)	`TTTCTC/TTTGTG`	2	--	us2k¹		1		NA	2
rs74524973^1,2		--	74161779(+)	`CGTTGC/TCGAGG`	2	--	us2k¹		0	--	--	--	--
rs11687991^1,2	C,F,H	--	74161969(+)	`TGCCAC/TGAGGC`	2	--	ut5¹ nc-transcript-varianttfbs³		5		NS EA NA	422
rs1723285^1,2	C,F,O,H,	--	74162306(-)	`AGCTGC/TGGCGG`	2	--	int¹		17		MN NA NS EA WA	1552
rs10198300^1,2	C,F,H,	--	74162932(+)	`atgaaC/Tgtatt`	2	--	int¹		5		NS EA WA	538
rs6749199^1,2	C,F,H,	--	74163310(+)	`CCTTCT/CTTTTt`	2	--	int¹ trp³		7		NS EA WA CSA	541

HapMap Linkage Disequilibrium report for MTHFD2 (74425689 - 74444692 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MTHFD2
1 CNV: 3366

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MTHFD2 for disorders           About GeneDecksing

OMIM gene information: 604887    OMIM disorders: --

14 diseases for MTHFD2:    About MalaCards

diffuse large b-cell lymphoma b-cell lymphomas spina bifida intrahepatic cholangiocarcinoma

follicular lymphoma cholangiocarcinoma pulmonary disease homocysteine

pneumonia esophagitis tuberculosis adenocarcinoma

prostatitis mycobacterium tuberculosis

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 9 sources (see all 42):
(articles sorted by number of sources associating them with MTHFD2)

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Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase. (PubMed id 2587219)^{1, 2, 3} Peri K.G.... Mackenzie R.E. (1989)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
NAD-dependent methylenetetrahydrofolate dehydrogenase -methenyltetrahydrofolate cyclohydrolase is the mammalian homolog of the mitoch ondrial enzyme encoded by the yeast MIS1 gene. (PubMed id 8218174)^{1, 3} Yang X.M. and MacKenzie R.E. (1993)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
MINOS1 is a conserved component of mitofilin complexe s and required for mitochondrial function and cristae organization. (PubMed id 22114354)¹ Alkhaja A.K....Deckers M. (2012)
Global landscape of HIV-human protein complexes. (PubMed id 22190034)¹ Jager S....Krogan N.J. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MTHFD2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MTHFD2 gene
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Patent Information for MTHFD2 gene:
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