C2CD4B (C2 calcium dependent domain containing 4B)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 388125
Gene name C2 calcium dependent domain containing 4B
Gene symbol C2CD4B
Synonyms (NCBI Gene)
FAM148BNLF2
Chromosome 15
Chromosome location 15q22.2
miRNA miRNA information provided by mirtarbase database.
23
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
miRTarBase ID miRNA Experiments Reference
MIRT495026 hsa-miR-1273d PAR-CLIP 23708386
MIRT495025 hsa-miR-660-5p PAR-CLIP 23708386
MIRT495024 hsa-miR-5588-3p PAR-CLIP 23708386
MIRT495022 hsa-miR-6814-5p PAR-CLIP 23708386
MIRT495023 hsa-miR-150-5p PAR-CLIP 23708386
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
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 IEA
GO:0005634 Component Nucleus NAS 15527968
GO:0030155 Process Regulation of cell adhesion IDA 15527968
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610344 33628 ENSG00000205502
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NLJ0
Protein name C2 calcium-dependent domain-containing protein 4B (Nuclear-localized factor 2) (Protein FAM148B)
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 
MRLLEKLCSSAAGSSAPKPAFAKVLTPNRIPEFCIPPRLPAPCTLESPIRAAAVPRRCAA
ESDLWPRAADEDAGRTDWDPRSQAALSLPHLPRVRTTYGFCALLESPHTRRKESLLLGGP
PAPRPRAHSCGGGGGPDAPLGTLCGPRGPGPATPAAPGGPRLPQDALAAGPRRCRLLRVP
DGLLSRALRAGRSRRLARVRSVSSGNEDEERRAGSESPARAPSSSPLSSRAPLPERLEAK
GTVALGRAGDALRLAAEYCPGTRRLRLRLLRAESLFGGAPGPRAVRCRLSLVLRPPGTAR
WQCSAVVGRSRKASFDQDFCFDGLSEDEVRRLAVRVKARDEGRGRDRGRLLGQGELSLGA
LLLL
Sequence length 364
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (4)
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 — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Diabetes Diabetes BEFREE 21249489, 23185617
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 21249489, 23185617
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 20818381, 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
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 23740754 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Uveitis Uveitis Pubtator 36834715 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only