Gene Gene information from NCBI Gene database.
Entrez ID 11230
Gene name PRA1 domain family member 2
Gene symbol PRAF2
Synonyms (NCBI Gene)
JM4Yip6a
Chromosome X
Chromosome location Xp11.23
miRNA miRNA information provided by mirtarbase database.
138
miRTarBase ID miRNA Experiments Reference
MIRT001516 hsa-miR-155-5p pSILAC 18668040
MIRT052307 hsa-let-7b-5p CLASH 23622248
MIRT051851 hsa-let-7c-5p CLASH 23622248
MIRT1259535 hsa-miR-103a CLIP-seq
MIRT1259536 hsa-miR-107 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 35156780
GO:0005768 Component Endosome IEA
GO:0010008 Component Endosome membrane IEA
GO:0015031 Process Protein transport IEA
GO:0015813 Process L-glutamate transmembrane transport ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300840 28911 ENSG00000243279
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60831
Protein name PRA1 family protein 2
Protein function May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptotic role in cerulenin-induced neuroblastoma apoptosis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03208 PRA1 4 151 PRA1 family protein Family
Tissue specificity TISSUE SPECIFICITY: Strong expression in the brain, small intestine, lung, spleen, and pancreas as well as in tumor tissues of the breast, colon, lung and ovary, with a weaker expression in normal tissues of the same patient. High expression in neuroblast
Sequence
Sequence length 178
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
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
Cystic Fibrosis Cystic fibrosis Pubtator 36167862 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 31200670 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 20412121 Stimulate
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 38203769 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30100755
★☆☆☆☆
Found in Text Mining only
Malignant Glioma Glioma BEFREE 20412121
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 20412121
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 23440329, 30100755
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 20412121, 23440329
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 20412121 Associate
★☆☆☆☆
Found in Text Mining only