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 (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
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Esophageal atresia Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Pyloric stenosis Uncertain significance ClinVar
★★☆☆☆
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
Autism Spectrum Disorder Autism Pubtator 37328585 Inhibit
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 36518255 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 23185617, 31527256
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 23185617, 31527256
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 21799836, 21873549 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 20818381, 21799836, 21909839, 29625024
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus CTD_human_DG 20818381
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pituitary Neoplasms Pituitary neoplasm Pubtator 36750863 Associate
★☆☆☆☆
Found in Text Mining only