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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C2CD4B Gene

protein-coding GIFtS: 36
GCID: GC15M062456

C2 calcium-dependent domain containing 4B

(Previous names: family with sequence similarity 148, member B )
(Previous symbol: FAM148B)

Search for C2CD4B
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
C2 Calcium-Dependent Domain Containing 4B¹ ²		Nuclear-Localized Factor 2² ³
NLF2¹ ² ³ ⁵		C2 Calcium-Dependent Domain-Containing Protein 4B²
FAM148B¹ ² ³		Nuclear Localized Factor 2²
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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
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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

C2CD4B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001007596.2

ENSEMBL proteins:

ENSP00000369755

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005730	nucleolus	IDA	--
GO:0005925	focal adhesion	IDA	--

C2CD4B for ontologies About GeneDecksing

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(According to 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,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: C2C4B_HUMAN, A6NLJ0

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

Induction: Up-regulated by pro-inflammatory cytokines

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C2CD4B

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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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):

AI692577 AI826992 CA867828 AI304843 BE502802 BM852198 BE465022 BE674653

AI186963 BE672586 BF111186 AI681920 AI802191 BM054849 BM129825 AI989766

AW072265 AI264680 BE327129 BF433151 BF195283 BI963043 AI672810 AW009026

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
CGAP TAG: --

About this image

C2CD4B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	--	Uncharacterized protein	27(a)	1 → many	10(5374160-5375969)
lizard (Anolis carolinensis)	Reptilia	--	--	29(a)	1 → many	AAWZ02041427(2107-3525)

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 C2CD4A² C2CD4C²

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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs148971481^1,2		--	62455321(+)	`CTGACC/TACTTA`	1	--	ds500¹		0	--	--	--	--
rs185428876^1,2		--	62455432(+)	`CAGAGA/GCAAGA`	1	--	ds500¹		0	--	--	--	--
rs4775475^1,2	C,F,A,H,	--	62455497(+)	`CCCTAC/GATAAC`	1	--	ds500¹		16		NS EA WA NA CSA	795
rs190678282^1,2		--	62455567(+)	`TTCCAA/CAAGAA`	1	--	ds500¹		0	--	--	--	--
rs56362583^1,2	C,	--	62455573(+)	`AAGAAA/TACTTT`	1	--	ds500¹		4		NA WA EA	360
rs115338597^1,2	C,F,	--	62455656(+)	`CGTGCG/ACAAAC`	1	--	ds500¹		1		WA	118
rs201510342^1,2		--	62455757(+)	`TTATT-/AAAAAA`	1	--	ut3¹		0	--	--	--	--
rs8555^1,2	C,F,	--	62455942(+)	`ACCAAT/CAGACG`	1	--	ut3¹		5		MN NA	192
rs181627633^1,2		--	62455969(+)	`GTGAGA/GAAGTA`	1	--	ut3¹		0	--	--	--	--
rs77109609^1,2	C,F,	--	62456059(+)	`CTCCAG/AGGCAG`	1	--	ut3¹		1		WA	118

HapMap Linkage Disequilibrium report for C2CD4B (62455734 - 62457482 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C2CD4B: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

C2CD4B for disorders About MalaCards

C2CD4B for disorders About GeneDecksing

OMIM gene information: 610344 OMIM disorders: --

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

A novel gene family induced by acute inflammation in endothelial cells. (PubMed id 15527968)^{1, 2} Warton K.... Stanley K.K. (2004)
NLF2 gene expression in the endometrium of patients wi th implantation failure after IVF treatment. (PubMed id 22885067)¹ Turkyilmaz E....Menevse S. (2012)
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)
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)
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)
Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)¹ Fontaine-Bisson B....Franks P.W. (2010)
New genetic loci implicated in fasting glucose homeos tasis and their impact on type 2 diabetes risk. (PubMed id 20081858)¹ Dupuis J....Zillikens M.C. (2010)
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 Yamauchi T....SandbA (2010)
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 Boesgaard T.W....Borch-Johnsen K. (2010)
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

		AND	OR
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

Name	Description
PharmGKB entry for C2CD4B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C2CD4B gene
(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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C2CD4B Gene

C2 calcium-dependent domain containing 4B

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C2CD4B Gene

C2 calcium-dependent domain containing 4B

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