Gene Gene information from NCBI Gene database.
Entrez ID 55111
Gene name Pleckstrin homology domain containing J1
Gene symbol PLEKHJ1
Synonyms (NCBI Gene)
GNRPX
Chromosome 19
Chromosome location 19p13.3
miRNA miRNA information provided by mirtarbase database.
328
miRTarBase ID miRNA Experiments Reference
MIRT039590 hsa-miR-625-5p CLASH 23622248
MIRT1242356 hsa-miR-1184 CLIP-seq
MIRT1242357 hsa-miR-1205 CLIP-seq
MIRT1242358 hsa-miR-1207-3p CLIP-seq
MIRT1242359 hsa-miR-128 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0001881 Process Receptor recycling IBA
GO:0005515 Function Protein binding IPI 21900206, 28514442, 32296183, 33961781
GO:0005769 Component Early endosome IBA
GO:0005802 Component Trans-Golgi network IBA
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617834 18211 ENSG00000104886
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NW61
Protein name Pleckstrin homology domain-containing family J member 1 (PH domain-containing family J member 1) (Guanine nucleotide-releasing protein x)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 17 108 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis and liver. {ECO:0000269|PubMed:11602354}.
Sequence
Sequence length 149
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations