Gene Gene information from NCBI Gene database.
Entrez ID 60626
Gene name RIC8 guanine nucleotide exchange factor A
Gene symbol RIC8A
Synonyms (NCBI Gene)
RIC8
Chromosome 11
Chromosome location 11p15.5
miRNA miRNA information provided by mirtarbase database.
130
miRTarBase ID miRNA Experiments Reference
MIRT049571 hsa-miR-92a-3p CLASH 23622248
MIRT526127 hsa-miR-603 PAR-CLIP 22012620
MIRT526125 hsa-miR-6757-3p PAR-CLIP 22012620
MIRT526126 hsa-miR-892b PAR-CLIP 22012620
MIRT526124 hsa-miR-648 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0001944 Process Vasculature development IEA
GO:0001965 Function G-protein alpha-subunit binding IBA
GO:0001965 Function G-protein alpha-subunit binding IEA
GO:0001965 Function G-protein alpha-subunit binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609146 29550 ENSG00000177963
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPQ8
Protein name Chaperone Ric-8A (Synembryn-A)
Protein function Chaperone that specifically binds and folds nascent G alpha proteins prior to G protein heterotrimer formation, promoting their stability and activity: folds GNAI1, GNAO1, GNA13 and GNAQ (By similarity). Does not fold G(s) G-alpha proteins GNAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10165 Ric8 66 506 Guanine nucleotide exchange factor synembryn Family
Sequence
Sequence length 531
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID 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
Autistic Disorder Autism BEFREE 28119500
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 29915430
★☆☆☆☆
Found in Text Mining only
Cobblestone Lissencephaly Cobblestone Lissencephaly BEFREE 29380551
★☆☆☆☆
Found in Text Mining only
Fragile X Syndrome Fragile X Syndrome BEFREE 28119500, 29966094
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer CTD_human_DG 29915430
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 31118521
★☆☆☆☆
Found in Text Mining only
Mammary Carcinoma, Human Marfan Syndrome CTD_human_DG 29915430
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms CTD_human_DG 29915430
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms, Human Mammary Neoplasms CTD_human_DG 29915430
★☆☆☆☆
Found in Text Mining only
Meningioma Meningioma Pubtator 29762745 Associate
★☆☆☆☆
Found in Text Mining only