Gene Gene information from NCBI Gene database.
Entrez ID 54707
Gene name GPN-loop GTPase 2
Gene symbol GPN2
Synonyms (NCBI Gene)
ATPBD1B
Chromosome 1
Chromosome location 1p36.11
miRNA miRNA information provided by mirtarbase database.
121
miRTarBase ID miRNA Experiments Reference
MIRT050572 hsa-miR-20a-5p CLASH 23622248
MIRT688030 hsa-miR-562 HITS-CLIP 23313552
MIRT688029 hsa-miR-552-3p HITS-CLIP 23313552
MIRT688028 hsa-miR-5697 HITS-CLIP 23313552
MIRT688027 hsa-miR-6814-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 32814053, 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.
Q9H9Y4
Protein name GPN-loop GTPase 2 (ATP-binding domain 1 family member B)
Protein function Small GTPase required for proper localization of RNA polymerase II and III (RNAPII and RNAPIII). 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 14 261 Conserved hypothetical ATP binding protein Domain
Sequence
Sequence length 310
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
PERRAULT SYNDROME 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations