MTHFR: Polycystic Ovarian Syndrome Database

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MTHFR

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

MTHFR

Aliases

Entrez Gene ID

4524

Gene Name

Methylenetetrahydrofolate reductase

Chromosomal Location

1p36.22

HGNC ID

HGNC:7436

Summary

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

RefSeq DNA

NG_013351.1

RefSeq mRNA

NM_005957.5, NM_001330358.1, NM_005957.4

e!Ensembl

Gene	ENSG00000177000
Transcript	ENST00000376592, ENST00000376585, ENST00000376590, ENST00000641747, ENST00000423400, ENST00000641446, ENST00000641407, ENST00000641820, ENST00000376486, ENST00000418034, ENST00000413656, ENST00000376583
Protein	ENSP00000365777, ENSP00000365770, ENSP00000365775, ENSP00000493116, ENSP00000398908, ENSP00000493262, ENSP00000493098, ENSP00000492937, ENSP00000365669, ENSP00000405082, ENSP00000408307, ENSP00000365767

Gene Ontology (GO)

Show/Hide all(23 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001843	Biological process	Neural tube closure	IMP	25855017, 29222906
GO:0001843	Biological process	Neural tube closure	NAS	9349452
GO:0006520	Biological process	Cellular amino acid metabolic process	TAS	7647779
GO:0006555	Biological process	Methionine metabolic process	IGI	10551815
GO:0006730	Biological process	One-carbon metabolic process	IBA	21873635
GO:0008015	Biological process	Blood circulation	TAS	7647779
GO:0009086	Biological process	Methionine biosynthetic process	IBA	21873635
GO:0031060	Biological process	Regulation of histone methylation	IDA	24769206
GO:0035999	Biological process	Tetrahydrofolate interconversion	IBA	21873635
GO:0035999	Biological process	Tetrahydrofolate interconversion	IDA	12673793
GO:0035999	Biological process	Tetrahydrofolate interconversion	IGI	10551815
GO:0035999	Biological process	Tetrahydrofolate interconversion	IMP	12673793, 25736335
GO:0050667	Biological process	Homocysteine metabolic process	IDA	20031578
GO:0070829	Biological process	Heterochromatin maintenance	IDA	24769206
GO:0005829	Cellular component	Cytosol	IBA	21873635
GO:0004489	Molecular function	Methylenetetrahydrofolate reductase (NAD(P)H) activity	IBA	21873635
GO:0004489	Molecular function	Methylenetetrahydrofolate reductase (NAD(P)H) activity	IDA	12673793, 24769206
GO:0004489	Molecular function	Methylenetetrahydrofolate reductase (NAD(P)H) activity	IGI	10551815
GO:0004489	Molecular function	Methylenetetrahydrofolate reductase (NAD(P)H) activity	IMP	12673793, 25736335
GO:0044877	Molecular function	Protein-containing complex binding	IPI	24769206
GO:0050660	Molecular function	Flavin adenine dinucleotide binding	IDA	12673793
GO:0071949	Molecular function	FAD binding	IBA	21873635
GO:0072341	Molecular function	Modified amino acid binding	IDA	20031578

Protein Information

Protein Name

Methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolate reductase (NAD(P)H)

Function

Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.

Refseq Proteins

NP_005948.3, NP_001317287.1

UniProt

P42898

PDB

6FCX

Pfam

Pfam Accession	Pfam ID
PF02219	MTHFR

Pathways
	KEGG	Reactome
	One carbon pool by folate Metabolic pathways Carbon metabolism Antifolate resistance	Metabolism of folate and pterines

Interactions

STRING	MINT	IntAct
ENSP00000356771	P12259	P12259

View interactions

Associated Diseases

Show/Hide all(14 )

Disease group	Disease Name	References
Blood Disorders
	Hematological Disease	19159907
	Thrombophilia	17493413
	Neutropenia	19391036
	Anemia	19391036, 25007187
	Leukopenia	19648163
Cardiovascular Diseases
	Vascular Diseases	19646848
	Microvascular Angina	17491230
	Cardiovascular Abnormalities	16524890
	Arteriosclerosis	29212778
	Pulmonary thromboembolism	19123085
	Coronary Restenosis	16489563
	Coronary heart disease	16792904, 21347282
	Deep Vein Thrombosis	19123085
	Atrial Fibrillation	19597492
	Diabetic Cardiomyopathies	16681562
	Pulmonary Embolism	19123085
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Homocysteinemia due to MTHFR deficiency	3580562, 25741868, 26872964, 12840091, 20490923, 15048559, 28492532, 25856670, 25736335, 25818041, 8940272, 20236116, 10679944, 7726158, 9781030
	Down Syndrome	16353284, 16845273, 16489479, 17431899
	Anencephaly	23056169
	Primary tethered cord syndrome	23056169
	Status Dysraphicus	27713094, 23056169
	Congenital clubfoot	16936070
	Maxillofacial Abnormalities	16832597
	Cleft upper lip	16470725
	Diastematomyelia	23056169
	Neurenteric Cyst	23056169
	Blood Coagulation Disorders	17493413
Digestive System Diseases
	Liver Diseases	19648163, 18551038, 16877991
	Crohn Disease	28002332
	Hepatitis	18551038, 19648163
	Enteritis	28002332
	Colitis	28002332
	Gastrointestinal Diseases	19648163
	Cholera Infantum	19648163
Ear Or Mastoid Diseases
Ear Or Mastoid Diseases	Meniere Disease	28787010
Endocrine System Diseases
	MTHFR Deficiency	9781030, 25818041, 8940272, 10679944, 25736335, 7726158, 20236116
	Thyrotoxicosis	18941937
	PCOS	22882325
Immune System Diseases
	Rheumatoid Arthritis	22104130
	Graft-vs-Host Disease	16518429
Neoplasms
	Lymphoma	16799656, 17488658, 16410450, 16706930
	Breast Cancer	16777985, 17595805
	Colorectal Cancer	18676755, 17350979, 15608557, 16512993, 16985020, 17087956, 17047490, 17245555
	Stomach Cancer	21347786, 18505952
	Leukemia	16706930
	Cervical Cancer	17303386
	Lung Cancer	17389614
	Colonic Neoplasms	16284371
	Prostate cancer	17967524
	Bladder Cancer	22747749
	Cervical Intraepithelial Neoplasia	17303386
	Endometrial Cancer	17303386, 17301261
	Reticulosarcoma	17488658
	Gastric Cancer	21347786, 18505952
Nervous System Diseases
	Cerebral Ischemia	15534175
	Moyamoya disease	29273593
	Neural Tube Defects	23056169
	Spinal Cord Diseases	16361298
	Stroke	16681562, 15534175, 19646848
	Spina Bifida	27713094, 16602021
	Arsenic Encephalopathy	24384392
	Sinus Thrombophlebitis	18941937
	Sinus Thrombosis	18941937
	Leukoencephalopathies	15753437
	Childhood Ataxia with Central Nervous System Hypomyelinization	15753437
Nutritional and Metabolic Diseases
	Hyperhomocysteinemia	10459572, 18234410, 16317120, 16411416, 19204075, 17387702, 15226090, 16575899, 19646848, 16397167, 18551038
	Malnutrition	16709328
Psychiatric/Brain disorders
	Mental Depression	24373005, 24532086, 23586533, 25012419, 26177556, 23900311, 24123968, 24751310, 23255668, 17074966, 21772318, 23116396
	Manic Disorder	17074966
	Bipolar Disorder	24577139, 23969624, 24938371, 25101272, 25744938, 17074966
	Melancholia	17074966
	Mood Disorders	9774778, 23586533, 15564899, 16691128
	Schizophrenia	22037552, 16641680, 18583979, 17074966
	Senile Dementia	17192785
	Autistic Disorder	19267885
	Alzheimer Disease	17192785
	Psychosis	16055253
	Obstructive Sleep Apnea	20146869
Renal Disorder
	Kidney Failure	17387702
	Kidney Insufficiency	17387702
Reproductive disorders
	Subfertility, Female	16679164
	Male infertility	16861746
	Preeclampsia	24991435, 27755385, 25480409, 25801727, 30986448
Skin and Connective Tissue Diseases
	Alopecia	18381794
	Dermatitis	17548696

References

Show/Hide all(2)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
22882325	PAI-1	Recurrent pregnancy loss	MTHFR polymorphism (A1298C, C677T)		Related	Iranian women-38 PCOS & 106 without PCOS(RPL-recurrent pregnancy loss)	Results showed the significance of MTHFR A1298C and PAI-1 4G/5G mutations in Iranian women suffering from RPL with and without PCOS.
22882325	PAI-1	Recurrent pregnancy loss (RPL)	A1298C and C677T		Related	177 RPL,100	RPL, RPL-PCOS, and RPL-ovarian PCO groups showed significantly higher frequencies of MTHFR A1298C (P < 0.001) and PAI-1 4G/5G (P < 0.001) mutations than the controls

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