Gene Gene information from NCBI Gene database.
Entrez ID 51184
Gene name GPN-loop GTPase 3
Gene symbol GPN3
Synonyms (NCBI Gene)
ATPBD1C
Chromosome 12
Chromosome location 12q24.11
miRNA miRNA information provided by mirtarbase database.
102
miRTarBase ID miRNA Experiments Reference
MIRT028058 hsa-miR-93-5p Sequencing 20371350
MIRT1029621 hsa-miR-106a CLIP-seq
MIRT1029622 hsa-miR-106b CLIP-seq
MIRT1029623 hsa-miR-17 CLIP-seq
MIRT1029624 hsa-miR-200b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0005515 Function Protein binding IPI 25241168, 32296183, 33961781
GO:0005525 Function GTP binding IEA
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHW5
Protein name GPN-loop GTPase 3 (ATP-binding domain 1 family member C)
Protein function Small GTPase required for proper localization of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03029 ATP_bind_1 8 254 Conserved hypothetical ATP binding protein Domain
Sequence
Sequence length 284
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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 31431135
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31431135 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 37951201 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 31431135
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28940195, 31431135
★☆☆☆☆
Found in Text Mining only
Trigeminal Neuralgia Trigeminal neuralgia BEFREE 30095334
★☆☆☆☆
Found in Text Mining only