Gene Gene information from NCBI Gene database.
Entrez ID 64779
Gene name Methenyltetrahydrofolate synthetase domain containing
Gene symbol MTHFSD
Synonyms (NCBI Gene)
-
Chromosome 16
Chromosome location 16q24.1
miRNA miRNA information provided by mirtarbase database.
120
miRTarBase ID miRNA Experiments Reference
MIRT022160 hsa-miR-124-3p Microarray 18668037
MIRT049525 hsa-miR-92a-3p CLASH 23622248
MIRT456788 hsa-miR-3154 PAR-CLIP 23592263
MIRT456786 hsa-miR-4270 PAR-CLIP 23592263
MIRT456787 hsa-miR-4441 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616820 25778 ENSG00000103248
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2M296
Protein name Methenyltetrahydrofolate synthase domain-containing protein
PDB 2E5J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01812 5-FTHF_cyc-lig 10 207 5-formyltetrahydrofolate cyclo-ligase family Family
PF00076 RRM_1 308 373 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
Sequence length 383
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Bipolar Disorder Associate 40142297
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Associate 24419231
★☆☆☆☆
Found in Text Mining only