Gene

mthfr

ID

ZDB-GENE-041111-215

Name

methylenetetrahydrofolate reductase (NAD(P)H)

Symbol

mthfr Nomenclature History

Previous Names

fa92h12
im:7144504 (1)
si:dkeyp-100a1.4 (1)
wu:fa92h12 (1)

Type

protein_coding_gene

Location

Chr: 8 Mapping Details/Browsers

Description

Predicted to enable FAD binding activity and methylenetetrahydrofolate reductase [NAD(P)H] activity. Predicted to be involved in methionine biosynthetic process and tetrahydrofolate interconversion. Predicted to be active in cytosol. Is expressed in anterior neural tube; optic cup; and somite. Human ortholog(s) of this gene implicated in several diseases, including carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); kidney failure (multiple); and liver disease (multiple). Orthologous to human MTHFR (methylenetetrahydrofolate reductase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7144504 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With mthfr Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
homocystinuria	Alliance	Homocystinuria due to MTHFR deficiency	236250
neural tube defect	Alliance	{Neural tube defects, susceptibility to}	601634
prothrombin thrombophilia	Alliance	{Thromboembolism, susceptibility to}	188050
schizophrenia	Alliance	{Schizophrenia, susceptibility to}	181500
thrombophilia due to thrombin defect	Alliance	{Thromboembolism, susceptibility to}	188050
		{Vascular disease, susceptibility to}

Associated With mthfr Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR053806	MTHFR, SAM-binding regulatory domain
Family	IPR003171	Methylenetetrahydrofolate reductase-like
Family	IPR004621	Eukaryotic-type methylenetetrahydrofolate reductase
Homologous_superfamily	IPR029041	FAD-linked oxidoreductase-like