Gene Gene information from NCBI Gene database.
Entrez ID 474383
Gene name Coagulation factor VIII associated 2
Gene symbol F8A2
Synonyms (NCBI Gene)
HAP40
Chromosome X
Chromosome location Xq28
Summary This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is c
miRNA miRNA information provided by mirtarbase database.
52
miRTarBase ID miRNA Experiments Reference
MIRT516320 hsa-miR-6507-3p PAR-CLIP 23446348
MIRT516319 hsa-miR-224-5p PAR-CLIP 23446348
MIRT516318 hsa-miR-939-3p PAR-CLIP 23446348
MIRT516317 hsa-miR-1234-3p PAR-CLIP 23446348
MIRT516316 hsa-miR-7107-5p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29466333, 32814053, 33961781
GO:0005634 Component Nucleus IDA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome 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
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
VENOUS THROMBOEMBOLISM 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
Huntington Disease Huntington Disease BEFREE 11035034, 27815841, 29209146, 30842263
★☆☆☆☆
Found in Text Mining only