Gene: Mthfr

Basic information

Tag Content
Uniprot ID A2A7F9
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID ENSMUSP00000116239
Ensembl nucleotide ID ENSMUSG00000029009
Gene name Methylenetetrahydrofolate reductase
Gene symbol Mthfr
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MVNEARGSGS PNPRSEGSSS GSESSKDSSR CSTPSLDPER HERLREKMRR RMDSGDKWFS 60
LEFFPPRTAE GAVNLISRFD RMAAGGPLFV DVTWHPAGDP GSDKETSSMM IASTAVNYCG 120
LETILHMTCC QQRPEEITGH LHRAKQLGLK NIMALRGDPV GDHWEAEEGG FSYATDLVKH 180
IRTEFADYFD ICVA 194

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMTHFR497032A0A3Q1M8J1Bos taurusPredictionMore>>
1:1 orthologMTHFRE2QXW9Canis lupus familiarisPredictionMore>>
1:1 orthologMTHFR102182523A0A452G4N1Capra hircusPredictionMore>>
1:1 orthologMTHFRA0A3Q2HUW6Equus caballusPredictionMore>>
1:1 orthologMTHFR4524P42898CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologMthfrA2A7F9Mus musculusPredictionMore>>
1:1 orthologMTHFR469800H2PY11Pan troglodytesPredictionMore>>
1:1 ortholog397180F1RF82Sus scrofaPredictionMore>>
1:1 orthologMthfr362657D4A7E8Rattus norvegicusPredictionMore>>
1:1 orthologmthfr567547B0V153Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
MTHFRrs1801131; c.1298A>C PCR�restriction fragment length polymorphism.25219684
MTHFRrs1801133; c.677C>T PCR�restriction fragment length polymorphism.25219684
MTHFRc.1298A>C PCR26236436
MTHFRc.677C>T PCR26236436
MTHFRc.1298A>C RFLP-PCR; ARMS_PCR25745606
MTHFRc.677C>TRFLP-PCR; ARMS_PCR25745606
MTHFRc.1298A>CRFLP-PCR; 26110153
MTHFRrs1801133A>CTDT25808365
MTHFRrs1801133; c.677C>TTaqMan SNP Genotyping Assay26540672
MTHFRc.677C>TGenotyping24460828
MTHFRrs2274976G>AGenotyping; TDT24254627
MTHFRc.677C>TPCR; RFLP23787444
MTHFRc.677C>TGenotyping; TDT16470725
MTHFRc.677C>TPCR; TDT15221800
MTHFRc.677C>TTransmission disequilibrium test1159940
MTHFRrs2274976G>APCR-RFLP20890936
MTHFRc.665C>T; p.A222VWES and Sanger sequencing26449438
MTHFRrs1801133; c.677C>T (increase risk)meta analysis 32124929
MTHFRrs1801133; c.677C>T PCR-RFLP27167580
MTHFRc.677C>TPCR-RFLP18661527
MTHFRc.677C>TGenotyping20082468
MTHFRc.677C>TPCR19419265
MTHFRrs1476413C>T; Genotyping20572854
MTHFRrs1801131T>G; c.1298A>C; Genotyping20572854
MTHFRrs1994798A>G; Genotyping20572854
MTHFRrs4846054T>C; Genotyping20572854
MTHFRrs2076001A>GGenotyping20572854
MTHFRc.677C>TGenotyping; TDT15054400

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence

GO:Cellular Component

GO ID GO Term Evidence

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1267 Proteomics identification
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR029041 FAD-linked_oxidoreductase-like
IPR003171 Mehydrof_redctse

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF02219 MTHFR

Protein-miRNA interaction