Gene Gene information from NCBI Gene database.
Entrez ID 145741
Gene name C2 calcium dependent domain containing 4A
Gene symbol C2CD4A
Synonyms (NCBI Gene)
FAM148ANLF1
Chromosome 15
Chromosome location 15q22.2
miRNA miRNA information provided by mirtarbase database.
209
miRTarBase ID miRNA Experiments Reference
MIRT052623 hsa-let-7a-5p CLASH 23622248
MIRT659974 hsa-miR-627-3p HITS-CLIP 23824327
MIRT659973 hsa-miR-494-3p HITS-CLIP 23824327
MIRT659972 hsa-miR-6875-3p HITS-CLIP 23824327
MIRT659971 hsa-miR-4659a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0002528 Process Regulation of vascular permeability involved in acute inflammatory response IDA 15527968
GO:0002675 Process Positive regulation of acute inflammatory response IDA 15527968
GO:0005634 Component Nucleus IDA 15527968
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610343 33627 ENSG00000198535
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NCU7
Protein name C2 calcium-dependent domain-containing protein 4A (Nuclear-localized factor 1) (Protein FAM148A)
Protein function May be involved in inflammatory process. May regulate cell architecture and adhesion.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in endothelial cells. {ECO:0000269|PubMed:15527968}.
Sequence
MWCLERLRLGPECLRRSGDWLLPGRARGAKSRTTAACANVLTPDRIPEFCIPPRLMPRLA
LAALRNSWVEEAGMDEGAGRTDWDPRSQAALSLPHLPRVRTAYGFCALLESPHTRRKESL
LLGGPPAPRPRAHTYGGGGGPDALLGTLRVPRAPGPATPAAPGCPRPPQDALARRPRGCR
LLRVPDGLLSRALRAGRSRRLTRVRSVSSGNEDKERRAGSQSPARAPSTSPPSSRVPFPE
RLEAEGTVALGRAGDALRLAAEYCPGTGRLRLRLLRAESPAGGAPGPRAVSCRLSLVLRP
PGTALRQCSTVVGRSRKASFDQDFCFDGLSEDEVRRLAVRVKARDEGRGRERGRLLGQGE
LSLGALLLL
Sequence length 369
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Esophageal atresia Uncertain significance rs1596557030 RCV000984720
Pyloric stenosis Uncertain significance rs1596557030 RCV000984720
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Inhibit 37328585
Colonic Neoplasms Associate 36518255
Diabetes Mellitus Type 2 Associate 21799836, 21873549
Pituitary Neoplasms Associate 36750863