Gene Gene information from NCBI Gene database.
Entrez ID 55239
Gene name 2-oxoglutarate and iron dependent oxygenase domain containing 1
Gene symbol OGFOD1
Synonyms (NCBI Gene)
TPA1
Chromosome 16
Chromosome location 16q13
miRNA miRNA information provided by mirtarbase database.
598
miRTarBase ID miRNA Experiments Reference
MIRT019747 hsa-miR-375 Microarray 20215506
MIRT020601 hsa-miR-155-5p Proteomics 18668040
MIRT025269 hsa-miR-34a-5p Proteomics 21566225
MIRT025269 hsa-miR-34a-5p Proteomics 21566225
MIRT028422 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615857 25585 ENSG00000087263
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N543
Protein name Prolyl 3-hydroxylase OGFOD1 (EC 1.14.11.-) (2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1) (Termination and polyadenylation 1 homolog) (uS12 prolyl 3-hydroxylase)
Protein function Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of 'Pro-62' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation. {ECO:0000269|PubMed:20154146, ECO:00002
PDB 4NHX , 4NHY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13661 2OG-FeII_Oxy_4 141 238 2OG-Fe(II) oxygenase superfamily Domain
PF10637 Ofd1_CTDD 261 542 Oxoglutarate and iron-dependent oxygenase degradation C-term Domain
Sequence
Sequence length 542
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Bardet-Biedl syndrome 2 Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa 74 Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 25909288
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25909288 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 21034162
★☆☆☆☆
Found in Text Mining only
Graft vs Host Disease Graft-versus-host disease Pubtator 20124481 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 25909288
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple Sclerosis BEFREE 24825926
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial Infarction BEFREE 9609233
★☆☆☆☆
Found in Text Mining only
Prostatic Hyperplasia Prostatic hyperplasia Pubtator 36974949 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 36974949 Associate
★☆☆☆☆
Found in Text Mining only