Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	441024
Gene name	Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like
Gene symbol	MTHFD2L
Synonyms (NCBI Gene)	-
Chromosome	4
Chromosome location	4q13.3

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027905	hsa-miR-96-5p	Sequencing	20371350
MIRT1163279	hsa-miR-1224-5p	CLIP-seq
MIRT1163280	hsa-miR-1304	CLIP-seq
MIRT1163281	hsa-miR-194	CLIP-seq
MIRT1163282	hsa-miR-3607-3p	CLIP-seq
MIRT1163283	hsa-miR-3671	CLIP-seq
MIRT1163284	hsa-miR-3686	CLIP-seq
MIRT1163285	hsa-miR-3915	CLIP-seq
MIRT1163286	hsa-miR-3928	CLIP-seq
MIRT1163287	hsa-miR-4689	CLIP-seq
MIRT1163288	hsa-miR-4778-5p	CLIP-seq
MIRT1163289	hsa-miR-617	CLIP-seq
MIRT2046891	hsa-miR-3121-3p	CLIP-seq
MIRT2046892	hsa-miR-3124-3p	CLIP-seq
MIRT2046893	hsa-miR-3692	CLIP-seq
MIRT2046894	hsa-miR-4436b-5p	CLIP-seq
MIRT2046895	hsa-miR-4773	CLIP-seq
MIRT2275996	hsa-miR-217	CLIP-seq
MIRT2275997	hsa-miR-329	CLIP-seq
MIRT2275998	hsa-miR-362-3p	CLIP-seq
MIRT2275999	hsa-miR-3941	CLIP-seq
MIRT2276000	hsa-miR-4528	CLIP-seq
MIRT2276001	hsa-miR-603	CLIP-seq
MIRT2391149	hsa-miR-2052	CLIP-seq
MIRT2391150	hsa-miR-219-2-3p	CLIP-seq
MIRT2391151	hsa-miR-323b-5p	CLIP-seq
MIRT2391152	hsa-miR-659	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	IBA
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	IEA
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	ISS
GO:0004477	Function	Methenyltetrahydrofolate cyclohydrolase activity	TAS
GO:0004487	Function	Methylenetetrahydrofolate dehydrogenase (NAD+) activity	IEA
GO:0004487	Function	Methylenetetrahydrofolate dehydrogenase (NAD+) activity	ISS
GO:0004487	Function	Methylenetetrahydrofolate dehydrogenase (NAD+) activity	TAS
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IBA
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA
GO:0004488	Function	Methylenetetrahydrofolate dehydrogenase (NADP+) activity	ISS
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009086	Process	Methionine biosynthetic process	IEA
GO:0009256	Process	10-formyltetrahydrofolate metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	IBA
GO:0035999	Process	Tetrahydrofolate interconversion	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	ISS
GO:0046655	Process	Folic acid metabolic process	IEA
GO:0046655	Process	Folic acid metabolic process	TAS

MIM	HGNC	e!Ensembl
614047	31865	ENSG00000163738

Q9H903

Protein name

Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial (NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein) (MTHFD2-like) [Includes: NAD-dependent methylenetetrahydrofolate dehydrogenase (EC 1.5.1.15) (EC 1

Protein function

Bifunctional mitochondrial folate-interconverting enzyme that has both NAD/NADP-dependent methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities.

PDB

7QEI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00763	THF_DHG_CYH	53 → 169	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain	Domain
PF02882	THF_DHG_CYH_C	172 → 346	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1, isoform 4 and isoform 5 are expressed in brain and placenta. {ECO:0000269|PubMed:21163947}.

Sequence

MTVPVRGFSLLRGRLGRAPALGRSTAPSVRAPGEPGSAFRGFRSSGVRHEAIIISGTEMA
KHIQKEIQRGVESWVSLGNRRPHLSIILVGDNPASHTYVRNKIRAASAVGICSELILKPK
DVSQEELLDVTDQLNMDPRVSGILVQLPLPDHVDERTICNGIAPEKDVDGFHIINIGRLC
LDQHSLIPATASAVWEIIKRTGIQTFGKNVVVAGRSKNVGMPIAMLLHTDGEHERPGGDA
TVTIAHRYTPKEQLKIHTQLADIIIVAAGIPKLITSDMVKEGAAVIDVGINYVHDPVTGK
TKLVGDVDFEAVKKKAGFITPVPGGVGPMTVAMLLKNTLLAAKKIIY

Sequence length

347

Interactions

View interactions

	KEGG		Reactome
	One carbon pool by folate Metabolic pathways Biosynthesis of cofactors		Metabolism of folate and pterines

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MTHFD2L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like)