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Aliases for C2CD4B Gene

Aliases for C2CD4B Gene

  • C2 Calcium Dependent Domain Containing 4B 2 3 5
  • Family With Sequence Similarity 148, Member B 2 3
  • Nuclear Localized Factor 2 2 3
  • FAM148B 3 4
  • NLF2 3 4
  • C2 Calcium-Dependent Domain-Containing Protein 4B 3
  • Nuclear-Localized Factor 2 4
  • Protein FAM148B 4

External Ids for C2CD4B Gene

Previous HGNC Symbols for C2CD4B Gene

  • FAM148B

Previous GeneCards Identifiers for C2CD4B Gene

  • GC15M060245
  • GC15M062456
  • GC15M039278

Summaries for C2CD4B Gene

GeneCards Summary for C2CD4B Gene

C2CD4B (C2 Calcium Dependent Domain Containing 4B) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is C2CD4A.

UniProtKB/Swiss-Prot for C2CD4B Gene

  • May be involved in inflammatory process. May regulate cell architecture and adhesion.

Additional gene information for C2CD4B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2CD4B Gene

Genomics for C2CD4B Gene

GeneHancer (GH) Regulatory Elements for C2CD4B Gene

Promoters and enhancers for C2CD4B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J062163 Promoter/Enhancer 1.1 Ensembl ENCODE 650.7 +0.2 172 3.5 MXI1 PKNOX1 TAF1 L3MBTL2 NRF1 MAX ZBTB8A RAD21 POLR2A SCRT2 C2CD4B GC15P062091
GH15J062141 Enhancer 0.6 ENCODE 11.9 +23.3 23313 1.9 CTCF NANOG ZNF843 RAD21 OSR2 PRDM6 ZNF629 SMC3 ZNF18 ZXDB C2CD4B GC15P062091
GH15J062118 Enhancer 1.4 FANTOM5 Ensembl ENCODE 0.3 +44.5 44525 4.8 ATF1 ETS1 ZNF766 ATF7 FOS DEK REST KAT8 MEF2D NFIL3 C2CD4A GC15P062091 C2CD4B
GH15J062123 Enhancer 1.3 FANTOM5 Ensembl ENCODE 0.3 +40.4 40409 3.4 ELF3 FOXA2 SIN3A RAD21 RARA YY1 EGR1 CREM MIXL1 RXRA TPM1-AS GC15P062091 C2CD4B
GH15J062134 Enhancer 1.2 FANTOM5 Ensembl ENCODE 0.3 +28.3 28348 4.1 MZF1 FEZF1 SCRT2 RCOR1 KLF7 DEK EGR2 ZNF680 USF2 ZC3H11A VPS13C C2CD4B GC15P062091
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2CD4B on UCSC Golden Path with GeneCards custom track

Genomic Locations for C2CD4B Gene

Genomic Locations for C2CD4B Gene
chr15:62,163,535-62,165,283
(GRCh38/hg38)
Size:
1,749 bases
Orientation:
Minus strand
chr15:62,455,734-62,457,482
(GRCh37/hg19)
Size:
1,749 bases
Orientation:
Minus strand

Genomic View for C2CD4B Gene

Genes around C2CD4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD4B Gene

Proteins for C2CD4B Gene

  • Protein details for C2CD4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NLJ0-C2C4B_HUMAN
    Recommended name:
    C2 calcium-dependent domain-containing protein 4B
    Protein Accession:
    A6NLJ0

    Protein attributes for C2CD4B Gene

    Size:
    364 amino acids
    Molecular mass:
    38769 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2CD4B Gene

Post-translational modifications for C2CD4B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2CD4B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2CD4B Gene

Domains & Families for C2CD4B Gene

Gene Families for C2CD4B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2CD4B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD4B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NLJ0

UniProtKB/Swiss-Prot:

C2C4B_HUMAN :
  • Belongs to the C2CD4 family.
Family:
  • Belongs to the C2CD4 family.
genes like me logo Genes that share domains with C2CD4B: view

Function for C2CD4B Gene

Molecular function for C2CD4B Gene

UniProtKB/Swiss-Prot Function:
May be involved in inflammatory process. May regulate cell architecture and adhesion.
UniProtKB/Swiss-Prot Induction:
Up-regulated by pro-inflammatory cytokines.

Phenotypes From GWAS Catalog for C2CD4B Gene

Gene Ontology (GO) - Molecular Function for C2CD4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005544 calcium-dependent phospholipid binding IBA --
GO:0019905 NOT syntaxin binding IBA --
GO:0030276 NOT clathrin binding IBA --
genes like me logo Genes that share ontologies with C2CD4B: view
genes like me logo Genes that share phenotypes with C2CD4B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2CD4B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2CD4B Gene

Localization for C2CD4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2CD4B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C2CD4B gene
Compartment Confidence
nucleus 4
plasma membrane 3
mitochondrion 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for C2CD4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane IBA --
GO:0030672 synaptic vesicle membrane IBA --
genes like me logo Genes that share ontologies with C2CD4B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C2CD4B Gene

Pathways & Interactions for C2CD4B Gene

SuperPathways for C2CD4B Gene

No Data Available

Interacting Proteins for C2CD4B Gene

Gene Ontology (GO) - Biological Process for C2CD4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006906 NOT vesicle fusion IBA --
GO:0016079 synaptic vesicle exocytosis IBA --
GO:0017158 NOT regulation of calcium ion-dependent exocytosis IBA --
GO:0048488 synaptic vesicle endocytosis IBA --
GO:0048791 NOT calcium ion-regulated exocytosis of neurotransmitter IBA --
genes like me logo Genes that share ontologies with C2CD4B: view

No data available for Pathways by source and SIGNOR curated interactions for C2CD4B Gene

Drugs & Compounds for C2CD4B Gene

No Compound Related Data Available

Transcripts for C2CD4B Gene

mRNA/cDNA for C2CD4B Gene

(2) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(124) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2CD4B Gene

C2 calcium-dependent domain containing 4B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2CD4B

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD4B Gene

No ASD Table

Relevant External Links for C2CD4B Gene

GeneLoc Exon Structure for
C2CD4B
ECgene alternative splicing isoforms for
C2CD4B

Expression for C2CD4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2CD4B Gene

mRNA differential expression in normal tissues according to GTEx for C2CD4B Gene

This gene is overexpressed in Pancreas (x16.0), Stomach (x4.8), and Adipose - Visceral (Omentum) (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C2CD4B Gene



NURSA nuclear receptor signaling pathways regulating expression of C2CD4B Gene:

C2CD4B

SOURCE GeneReport for Unigene cluster for C2CD4B Gene:

Hs.144372

mRNA Expression by UniProt/SwissProt for C2CD4B Gene:

A6NLJ0-C2C4B_HUMAN
Tissue specificity: Specifically expressed in endothelial cells.

Evidence on tissue expression from TISSUES for C2CD4B Gene

  • Pancreas(3.9)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with C2CD4B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2CD4B Gene

Orthologs for C2CD4B Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2CD4B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2CD4B 34 33
  • 96.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100688626 33
  • 78.07 (n)
cow
(Bos Taurus)
Mammalia LOC529849 33
  • 77.78 (n)
C2CD4A 34
  • 63 (a)
ManyToMany
-- 34
  • 56 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia C2cd4b 16 34 33
  • 73.15 (n)
C2cd4a 34
  • 53 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia C2cd4b 33
  • 71.25 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 38 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 30 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 28 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii C2CD4A 34
  • 25 (a)
OneToMany
Species where no ortholog for C2CD4B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C2CD4B Gene

ENSEMBL:
Gene Tree for C2CD4B (if available)
TreeFam:
Gene Tree for C2CD4B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C2CD4B: view image

Paralogs for C2CD4B Gene

Paralogs for C2CD4B Gene

(1) SIMAP similar genes for C2CD4B Gene using alignment to 1 proteins:

  • C2C4B_HUMAN
genes like me logo Genes that share paralogs with C2CD4B: view

Variants for C2CD4B Gene

Sequence variations from dbSNP and Humsavar for C2CD4B Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000120400 -- 62,164,404(-) C/A/T coding_sequence_variant, missense_variant
rs1000412171 -- 62,164,233(-) G/T coding_sequence_variant, missense_variant
rs1001015608 -- 62,163,186(-) T/C downstream_transcript_variant
rs1001109770 -- 62,165,901(-) G/T upstream_transcript_variant
rs1001175877 -- 62,164,043(-) G/A/C coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for C2CD4B Gene

Variant ID Type Subtype PubMed ID
dgv4563n54 CNV gain 21841781
nsv1038474 CNV gain 25217958
nsv1045907 CNV gain 25217958
nsv457176 CNV gain 19166990
nsv471247 CNV gain 18288195

Variation tolerance for C2CD4B Gene

Gene Damage Index Score: 7.69; 82.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2CD4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD4B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD4B Gene

Disorders for C2CD4B Gene

Additional Disease Information for C2CD4B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for C2CD4B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2CD4B Gene

Publications for C2CD4B Gene

  1. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (PMID: 20081858) Dupuis J … Barroso I (Nature genetics 2010) 3 44 58
  2. A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. (PMID: 20818381) Yamauchi T … Kadowaki T (Nature genetics 2010) 3 44 58
  3. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 44 58
  4. Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people. (PMID: 20419449) Boesgaard TW … Pedersen O (Diabetologia 2010) 3 44 58
  5. A novel gene family induced by acute inflammation in endothelial cells. (PMID: 15527968) Warton K … Stanley KK (Gene 2004) 3 4 58

Products for C2CD4B Gene

Sources for C2CD4B Gene

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