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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C2CD4B Gene

protein-coding   GIFtS: 38
GCID: GC15M062456

C2 Calcium-Dependent Domain Containing 4B

(Previous names: family with sequence similarity 148, member B)
(Previous symbol: FAM148B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
C2 Calcium-Dependent Domain Containing 4B1 2     Nuclear Localized Factor 21 2
FAM148B1 2 3     Nuclear-Localized Factor 22 3
NLF22 3 5     C2 Calcium-Dependent Domain-Containing Protein 4B2
Family With Sequence Similarity 148, Member B1 2     Protein FAM148B3

External Ids:    HGNC: 336281   Entrez Gene: 3881252   Ensembl: ENSG000002055027   OMIM: 6103445   UniProtKB: A6NLJ03   

Export aliases for C2CD4B gene to outside databases

Previous GC identifers: GC15M060245 GC15M039278


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C2CD4B Gene: 
C2CD4B (C2 calcium-dependent domain containing 4B) is a protein-coding gene. Diseases associated with C2CD4B include endotheliitis, and gastric cancer. An important paralog of this gene is C2CD4D.

UniProtKB/Swiss-Prot: C2C4B_HUMAN, A6NLJ0
Function: May be involved in inflammatory process. May regulate cell architecture and adhesion




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for C2CD4B
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2CD4B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22.2   Ensembl cytogenetic band:  15q22.2   HGNC cytogenetic band: 15q22.2

C2CD4B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2CD4B gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M062456:  view genomic region     (about GC identifiers)

Start:
62,455,734 bp from pter      End:
62,457,482 bp from pter
Size:
1,749 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: C2C4B_HUMAN, A6NLJ0 (See protein sequence)
Recommended Name: C2 calcium-dependent domain-containing protein 4B  
Size: 364 amino acids; 38769 Da
Subcellular location: Nucleus

Explore the universe of human proteins at neXtProt for C2CD4B: NX_A6NLJ0

Explore proteomics data for C2CD4B at MOPED 

C2CD4B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C2CD4B Protein Expression

REFSEQ proteins: NP_001007596.2  
ENSEMBL proteins: 
 ENSP00000369755  

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005730nucleolus IDA--
GO:0005925focal adhesion IDA--

C2CD4B for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: A6NLJ0

UniProtKB/Swiss-Prot: C2C4B_HUMAN, A6NLJ0
Similarity: Belongs to the C2CD4 family
Similarity: Contains 1 C2 domain


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: C2C4B_HUMAN, A6NLJ0
Function: May be involved in inflammatory process. May regulate cell architecture and adhesion
Induction: Up-regulated by pro-inflammatory cytokines

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
C2CD4B for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2CD4B

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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Search CenterWatch for drugs/clinical trials and news about C2CD4B / C2C4B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C2CD4B gene: 
NM_001007595.2  

Unigene Cluster for C2CD4B:

C2 calcium-dependent domain containing 4B
Hs.144372  [show with all ESTs]
Unigene Representative Sequence: NM_001007595
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000380392(uc002ahg.2)
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2 DOTS entries:

DT.95272355  DT.211494 

24/124 AceView cDNA sequences (see all 124):

AI989766 BE502802 BF111186 CA867828 AW072265 BM054849 BE672586 BF195283 
BI963043 AI304843 AI826992 BM129825 AI692577 AI186963 BE465022 BF433151 
BM852198 AI802191 AI264680 BE327129 BE674653 AI681920 AI672810 AI554099 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C2CD4B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
C2CD4B Expression
About this image


See C2CD4B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C2CD4B

SOURCE GeneReport for Unigene cluster: Hs.144372

UniProtKB/Swiss-Prot: C2C4B_HUMAN, A6NLJ0
Tissue specificity: Specifically expressed in endothelial cells

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C2CD4B gene from 4/8 species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia C2cd4b1 , 5 C2 calcium-dependent domain containing 4B1, 5 72.97(n)1
66.77(a)1
  9 (36.72 cM)5
756971  NM_001081314.21  NP_001074783.11 
 677594375 
chicken
(Gallus gallus)
Aves --
--
30(a)
1 → many
10(3925576-3927300)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
30(a)
1 → many
AAWZ02041427(2107-3525)
zebrafish
(Danio rerio)
Actinopterygii C2CD4A6
C2 calcium-dependent domain containing 4A
26(a)
1 → many
25(34254387-34256363)


ENSEMBL Gene Tree for C2CD4B (if available)
TreeFam Gene Tree for C2CD4B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for C2CD4B gene
C2CD4D2  C2CD4C2  C2CD4A2  
1 SIMAP similar gene for C2CD4B using alignment to 1 protein entry:     C2C4B_HUMAN:
C2CD4A

C2CD4B for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/82 SNPs in C2CD4B are shown (see all 82)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1489714811,2
--62455321(+) CTGACC/TACTTA 1 -- ds50010--------
rs1854288761,2
--62455432(+) CAGAGA/GCAAGA 1 -- ds50010--------
rs47754751,2
C,F,A,H--62455497(+) CCCTAC/GATAAC 1 -- ds500116Minor allele frequency- G:0.27NS EA WA NA CSA 795
rs1906782821,2
--62455567(+) TTCCAA/CAAGAA 1 -- ds50010--------
rs563625831,2
C--62455573(+) AAGAAA/TACTTT 1 -- ds50014Minor allele frequency- T:0.16NA WA EA 360
rs1153385971,2
C,F--62455656(+) CGTGCG/ACAAAC 1 -- ds50011Minor allele frequency- A:0.03WA 118
rs2015103421,2
--62455757(+) TTATT-/AAAAAA 1 -- ut310--------
rs85551,2
C,F--62455942(+) ACCAAT/CAGACG 1 -- ut315Minor allele frequency- C:0.01MN NA 192
rs1816276331,2
--62455969(+) GTGAGA/GAAGTA 1 -- ut310--------
rs771096091,2
C,F--62456059(+) CTCCAG/AGGCAG 1 -- ut311Minor allele frequency- A:0.10WA 118

HapMap Linkage Disequilibrium report for C2CD4B (62455734 - 62457482 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for C2CD4B:    About this table     
Variant IDTypeSubtypePubMed ID
dgv2397n71CNV Loss21882294
nsv471247CNV Gain18288195
nsv457176CNV Gain19166990

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 610344    OMIM disorders: --

2 diseases for C2CD4B:    About MalaCards
endotheliitis    gastric cancer


C2CD4B for disorders           About GeneDecksing

Genetic Association Database (GAD): C2CD4B
Human Genome Epidemiology (HuGE) Navigator: C2CD4B (9 documents)

Export disorders for C2CD4B gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for C2CD4B gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with C2CD4B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (2010)
  2. New genetic loci implicated in fasting glucose homeos tasis and their impact on type 2 diabetes risk. (PubMed id 20081858)1, 4 Dupuis J....Zillikens M.C. (2010)
  3. A genome-wide association study in the Japanese popul ation identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C 2CD4B. (PubMed id 20818381)1, 4 Yamauchi T....SandbA (2010)
  4. Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B lo ci are associated with reduced glucose-stimulated beta cell function in middle- aged Danish people. (PubMed id 20419449)1, 4 Boesgaard T.W....Borch-Johnsen K. (2010)
  5. A novel gene family induced by acute inflammation in endothelial cells. (PubMed id 15527968)1, 2 Warton K.... Stanley K.K. (2004)
  6. NLF2 gene expression in the endometrium of patients wi th implantation failure after IVF treatment. (PubMed id 22885067)1 Turkyilmaz E....Menevse S. (2012)
  7. Genome-wide association identifies nine common variant s associated with fasting proinsulin levels and provides new insights into the p athophysiology of type 2 diabetes. (PubMed id 21873549)1 Strawbridge R.J....Florez J.C. (2011)
  8. A genome-wide association study confirms previously re ported loci for type 2 diabetes in Han Chinese. (PubMed id 21799836)1 Cui B....Ning G. (2011)
  9. Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. (PubMed id 20185807)1 Ingelsson E....Florez J.C. (2010)
  10. Identification of new genetic risk variants for type 2 diabetes. (PubMed id 20862305)1 Shu X.O....Hu F.B. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 388125 HGNC: 33628 AceView: LOC388125 Ensembl:ENSG00000205502 euGenes: HUgn388125
ECgene: C2CD4B H-InvDB: C2CD4B

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for C2CD4B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C2CD4B gene:
Search GeneIP for patents involving C2CD4B

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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