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

EFCAB2 Gene

protein-coding   GIFtS: 42
GCID: GC01P245133

EF-Hand Calcium Binding Domain 2

  See related disease
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
EF-Hand Calcium Binding Domain 21 2
EF-Hand Calcium-Binding Domain-Containing Protein 22

External Ids:    HGNC: 281661   Entrez Gene: 842882   Ensembl: ENSG000002036667   UniProtKB: Q5VUJ93   

Export aliases for EFCAB2 gene to outside databases

Previous GC identifers: GC01P241460 GC01P243199 GC01P215516


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

GeneCards Summary for EFCAB2 Gene: 
EFCAB2 (EF-hand calcium binding domain 2) is a protein-coding gene. Diseases associated with EFCAB2 include microcephaly. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CETN2.


(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_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EFCAB2 gene promoter:
         c-Fos   AP-1   c-Jun   POU6F1 (c2)   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEFCAB2 promoter sequence
   Search SABiosciences Chromatin IP Primers for EFCAB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFCAB2


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

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

EFCAB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFCAB2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P245133:  view genomic region     (about GC identifiers)

Start:
245,133,007 bp from pter      End:
245,290,466 bp from pter
Size:
157,460 bases      Orientation:
plus 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: EFCB2_HUMAN, Q5VUJ9 (See protein sequence)
Recommended Name: EF-hand calcium-binding domain-containing protein 2  
Size: 269 amino acids; 29714 Da
Secondary accessions: B4DZE9 Q59G23 Q9BS36
Alternative splicing: 3 isoforms:  Q5VUJ9-1   Q5VUJ9-2   Q5VUJ9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFCAB2: NX_Q5VUJ9

Explore proteomics data for EFCAB2 at MOPED 

EFCAB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

EFCAB2 Protein Expression

REFSEQ proteins (2 alternative transcripts): 
NP_001137415.1  NP_115704.1  

ENSEMBL proteins: 
 ENSP00000355480   ENSP00000355479   ENSP00000408661   ENSP00000355478   ENSP00000447807  
 ENSP00000405269   ENSP00000397120  

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Cloud-Clone Corp. CLIAs for EFCAB2


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
EFHAND: EF-hand domain containing

2 InterPro protein domains:
 IPR011992 EF-hand-like_dom
 IPR002048 EF_hand_dom

Graphical View of Domain Structure for InterPro Entry Q5VUJ9

ProtoNet protein and cluster: Q5VUJ9

UniProtKB/Swiss-Prot: EFCB2_HUMAN, Q5VUJ9
Similarity: Contains 2 EF-hand domains


EFCAB2 for domains           About GeneDecksing


(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

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005509calcium ion binding IEA--
     
EFCAB2 for ontologies           About GeneDecksing


Animal Models:
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFCAB2


(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 EFCAB2

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/6 Interacting proteins for EFCAB2 (ENSP000003554804) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
InteractantInteraction Details
GeneCardExternal ID(s)
ACOT11ENSP000003603664STRING: ENSP00000360366
CACNA1SENSP000003551924STRING: ENSP00000355192
CNSTENSP000003554704STRING: ENSP00000355470
OR2AK2ENSP000003554364STRING: ENSP00000355436
PHLDA3ENSP000003562784STRING: ENSP00000356278
About this table

(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
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EFCAB2 (EFCB2)

Search CenterWatch for drugs/clinical trials and news about EFCAB2 / EFCB2

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 EFCAB2 gene (2 alternative transcripts): 
NM_001143943.1  NM_032328.3  

Unigene Cluster for EFCAB2:

EF-hand calcium binding domain 2
Hs.134857  [show with all ESTs]
Unigene Representative Sequence: NR_026586
16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000391837 ENST00000518607 ENST00000366523(uc001ibc.2 uc010pyo.1)
ENST00000366522(uc001ibd.2 uc010pyp.1 uc001ibe.2) ENST00000497591
ENST00000447569 ENST00000473686 ENST00000366521 ENST00000487845 ENST00000549220
ENST00000495271 ENST00000479260 ENST00000551317 ENST00000425550 ENST00000427529
ENST00000479923
miRNA
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Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
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Clone
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OriGene ORF clones in mouse, rat for EFCAB2
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GenScript: all cDNA clones in your preferred vector (see all 2): EFCAB2 (NM_001143943)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFCAB2
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                     Customized lentivirus expression plasmids for stable overexpression of EFCAB2 
Primer
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EFCAB2
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EFCAB2

Additional mRNA sequence: 

AB209286.1 AK001393.1 AK090927.1 AK095945.1 AK302883.1 BC005357.1 NR_026586.1 NR_026587.1 
NR_026588.1 

13 DOTS entries:

DT.305535  DT.75176886  DT.408981  DT.206220  DT.92424643  DT.97812529  DT.86840262  DT.121364555 
DT.86856077  DT.95154065  DT.121364562  DT.91673478  DT.91980559 

24/103 AceView cDNA sequences (see all 103):

BM684229 AK001393 BE550301 BM807519 CD652592 AI470056 BF725561 AI631792 
AW614013 AI889463 AA854683 AW514044 AI038779 AW450764 AA384884 BU689922 
BQ438351 AW003955 BF725560 AA779931 BG532549 BU561099 CA415521 BC005357 

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

EFCAB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAAAGATCTT
EFCAB2 Expression
About this image


See EFCAB2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EFCAB2

SOURCE GeneReport for Unigene cluster: Hs.134857
    SABiosciences Custom PCR Arrays for EFCAB2
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OriGene qPCR primer pairs and template standards for EFCAB2
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EFCAB2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFCAB2

(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 animals and fungi.

Orthologs for EFCAB2 gene from 7/17 species (see all 17)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Efcab21 , 5 EF-hand calcium binding domain 21, 5 86.42(n)1
85.8(a)1
  1 (83.16 cM)5
682261  NM_026626.21  NP_080902.11 
 1784058815 
chicken
(Gallus gallus)
Aves LOC4214911 EF-hand calcium-binding domain-containing protein 2-like 74.53(n)
68.94(a)
  421491  XM_419538.3  XP_419538.3 
lizard
(Anolis carolinensis)
Reptilia EFCAB26
Uncharacterized protein
76(a)
1 ↔ 1
GL343285.1(1263440-1273912)
zebrafish
(Danio rerio)
Actinopterygii efcab21 EF-hand calcium binding domain 2 66.25(n)
67.5(a)
  558031  XM_681196.4  XP_686288.2 
fruit fly
(Drosophila melanogaster)
Insecta CG110411 CG11041 53.65(n)
46.58(a)
  37278  NM_137609.2  NP_611453.2 
worm
(Caenorhabditis elegans)
Secernentea F43C9.26
K03A1.46
(see all 6)
Protein K03A1.4, isoform a
(see all 6)
19(a)
16(a)
(see all 6)
possible ortholog
possible ortholog
(see all 6)
X(4786118-4790324)
X(7296163-7298751)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC316
Calcium-binding component of the spindle pole body...
23(a)
1 → many
XV(811008-811493)


ENSEMBL Gene Tree for EFCAB2 (if available)
TreeFam Gene Tree for EFCAB2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for EFCAB2 gene
CETN22  CETN12  CETN32  
12 SIMAP similar genes for EFCAB2 using alignment to 5 protein entries:     EFCB2_HUMAN (see all proteins):
CALML3    CALM2    CETN1    CALM1    CALM3    CETN2
MYL1    CETN3    TNNC1    TNNC2    CALML5    CALML6

EFCAB2 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

10/3569 SNPs in EFCAB2 are shown (see all 3569)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1126104451,2
C,F--245131216(+) CCACAT/CTCGGC 1 -- us2k12Minor allele frequency- C:0.07CSA WA 120
rs115875831,2
C,H--245131284(+) aactcA/Ttgacc 2 -- us2k10--------
rs1878080941,2
C--245131304(+) CCACCC/TGCTTC 2 -- us2k10--------
rs1113442441,2
C--245131361(+) CAGTAC/ATTTTA 2 -- us2k12Minor allele frequency- A:0.03CSA WA 120
rs109273601,2
C,F,A,H--245131447(+) AAGTCT/ATTGAG 2 -- us2k18Minor allele frequency- A:0.49NA WA EA 370
rs787330401,2
F--245131512(+) TGTACT/CAGATA 2 -- us2k11Minor allele frequency- C:0.04WA 118
rs1931676701,2
C--245131522(+) ACCGGA/GGATAT 2 -- us2k10--------
rs1437211381,2
--245131534(+) TAAACA/GAATAA 2 -- us2k10--------
rs1155272711,2
C,F--245131592(+) GTGAAC/GGAACG 2 -- us2k11Minor allele frequency- G:0.03WA 118
rs356493761,2
C,F--245131637(+) GCATGA/GGGCCA 5 -- us2k12Minor allele frequency- G:0.00NA 4

HapMap Linkage Disequilibrium report for EFCAB2 (245133007 - 245290466 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/14 variations for EFCAB2 (see all 14):    About this table     
Variant IDTypeSubtypePubMed ID
esv2726740CNV Deletion23290073
esv2726762CNV Deletion23290073
esv2669322CNV Deletion23128226
esv2673217CNV Deletion23128226
esv2726729CNV Deletion23290073
esv2726751CNV Deletion23290073
esv2663617CNV Deletion23128226
nsv5188CNV Insertion18451855
esv269284CNV Insertion20981092
esv273990CNV Insertion20981092

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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
2 diseases for EFCAB2:    About MalaCards
microcephaly    


EFCAB2 for disorders           About GeneDecksing

Genetic Association Database (GAD): EFCAB2
Human Genome Epidemiology (HuGE) Navigator: EFCAB2 (1 document)

Export disorders for EFCAB2 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 EFCAB2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with EFCAB2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
  6. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
  7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

(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: 84288 HGNC: 28166 AceView: MGC12458 Ensembl:ENSG00000203666 euGenes: HUgn84288
ECgene: EFCAB2 H-InvDB: EFCAB2

(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 EFCAB2 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 EFCAB2 gene:
Search GeneIP for patents involving EFCAB2

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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(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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