Gene Gene information from NCBI Gene database.
Entrez ID 65991
Gene name FUN14 domain containing 2
Gene symbol FUNDC2
Synonyms (NCBI Gene)
DC44HCBP6HCC3PD03104
Chromosome X
Chromosome location Xq28
miRNA miRNA information provided by mirtarbase database.
263
miRTarBase ID miRNA Experiments Reference
MIRT003098 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT003098 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT044913 hsa-miR-186-5p CLASH 23622248
MIRT042745 hsa-miR-339-5p CLASH 23622248
MIRT041249 hsa-miR-193b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000422 Process Autophagy of mitochondrion IBA
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005547 Function Phosphatidylinositol-3,4,5-trisphosphate binding IDA 29786068
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301042 24925 ENSG00000165775
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BWH2
Protein name FUN14 domain-containing protein 2 (Cervical cancer proto-oncogene 3 protein) (HCC-3) (Hepatitis C virus core-binding protein 6)
Protein function Binds directly and specifically 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate) (PIP3) leading to the recruitment of PIP3 to mitochondria and may play a role in the regulation of the platelet activation via AKT/GSK3B/cGMP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04930 FUN14 87 187 FUN14 family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in platelets (at protein level). {ECO:0000269|PubMed:30576423}.
Sequence
METSAPRAGSQVVATTARHSAAYRADPLRVSSRDKLTEMAASSQGNFEGNFESLDLAEFA
KKQPWWRKLFGQESGPSAEKYSVATQLFIGGVTGWCTGFIFQKVGKLAATAVGGGFFLLQ
LANHTGYIKVDWQRVEKDMKKAKEQLKIRKSNQIPTEVRSKAEEVVSFVKKNVLVTGGFF
GGFLLGM
AS
Sequence length 189
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
HEMOPHILIA A Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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
Cerebrovascular accident Stroke GWASCAT_DG 26908601
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 26908601 Associate
★☆☆☆☆
Found in Text Mining only
Deep Vein Thrombosis Thrombosis GWASCAT_DG 26908601
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver BEFREE 29735802
★☆☆☆☆
Found in Text Mining only
Hemophilia A Hemophilia BEFREE 17683067
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hypoxia Hypoxia Pubtator 34105393 Associate
★☆☆☆☆
Found in Text Mining only
Ischemic stroke Ischemic Stroke GWASCAT_DG 26908601
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 23925649
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 28736522
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 34105393 Associate
★☆☆☆☆
Found in Text Mining only