Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	388125
Gene name	C2 calcium dependent domain containing 4B
Gene symbol	C2CD4B
Synonyms (NCBI Gene)	FAM148BNLF2
Chromosome	15
Chromosome location	15q22.2

23 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
MIRT495021	hsa-miR-532-3p	PAR-CLIP	23708386
MIRT495019	hsa-miR-2116-3p	PAR-CLIP	23708386
MIRT495020	hsa-miR-6845-3p	PAR-CLIP	23708386
MIRT495018	hsa-miR-5189-3p	PAR-CLIP	23708386
MIRT495017	hsa-miR-4713-5p	PAR-CLIP	23708386
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
MIRT495021	hsa-miR-532-3p	PAR-CLIP	23708386
MIRT495019	hsa-miR-2116-3p	PAR-CLIP	23708386
MIRT495020	hsa-miR-6845-3p	PAR-CLIP	23708386
MIRT495018	hsa-miR-5189-3p	PAR-CLIP	23708386
MIRT495017	hsa-miR-4713-5p	PAR-CLIP	23708386
MIRT845421	hsa-miR-4659a-3p	CLIP-seq
MIRT845422	hsa-miR-4659b-3p	CLIP-seq
MIRT845423	hsa-miR-4778-3p	CLIP-seq

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

MIM	HGNC	e!Ensembl
610344	33628	ENSG00000205502

Protein Protein information from UniProt database. Download as csv Download as pdf
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

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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.
DIABETES MELLITUS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ 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	20818381	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	20818381, 20862305, 21799836, 22885922, 23945395, 24509480, 26818947, 28869590, 30054458, 30297969, 30718926, 32499647, 32514122, 32541925, 34594039, 35551307, 38374256, 38685053, 39024449, 40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (6)
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

C2CD4B (C2 calcium dependent domain containing 4B)

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