EFCAB2 Gene
protein-coding GIFtS: 41
GCID: GC01P245133
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EF-hand calcium binding domain 2
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Aliases
for EFCAB2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| EF-Hand Calcium Binding Domain 21 2 | | MGC124581 | | EF-Hand Calcium-Binding Domain-Containing Protein 22 |
Export aliases for EFCAB2 gene to outside databasesPrevious GC identifers: GC01P241460 GC01P243199 GC01P215516 |
Summaries
for EFCAB2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for EFCAB2 gene
(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_000001.10 NC_018912.1 NT_167186.1
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
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: 1q44EFCAB2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P245133: view genomic region
(about GC identifiers)
Start:
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245,133,007 bp from pter |
End:
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245,290,466 bp from pter |
Size:
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157,460 bases |
Orientation:
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plus strand |
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Proteins
for EFCAB2 gene
(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,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q9BS36Alternative 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
EFCAB2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001137415.1 NP_115704.1
ENSEMBL proteins: ENSP00000355480 ENSP00000355479 ENSP00000408661 ENSP00000355478 ENSP00000447807 ENSP00000405269 ENSP00000397120
Human Recombinant Protein Products:
EFCAB2 Antibody Products:
Assay Products for EFCAB2: |
Protein
Domains /
Families
for EFCAB2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
EFCAB2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q5VUJ9ProtoNet protein and cluster: Q5VUJ9 UniProtKB/Swiss-Prot: EFCB2_HUMAN, Q5VUJ9Similarity: Contains 2 EF-hand domains |
Function
for EFCAB2 gene
(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
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EFCAB2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EFCAB2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for EFCAB2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFCAB2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFCAB2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0005509 | calcium ion binding |
IEA | -- |
EFCAB2 for ontologies About GeneDecksing
|
Pathways & Interactions
for EFCAB2 gene
(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 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)About this table
|
Drugs & Compounds
for EFCAB2 gene(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
|
 Browse Tocris compounds for EFCAB2
Search CenterWatch for drugs/clinical trials and news about EFCAB2 / EFCB2
|
Transcripts
for EFCAB2 gene(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,
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,
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_02658616 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EFCAB2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EFCAB2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): EFCAB2 (NM_001143943) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EFCAB2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFCAB2 |
Additional cDNA 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): BE550301 AI889463 AI470056 AW450764 AK001393 BM684229 AI038779 AI631792 AW614013 BM807519 AA854683 AW514044 BF725561 CD652592 AA384884 BF725560 BI546509 AW003955 BQ438351 AI361065 CK819332 BG532175 BU561099 AA779931
GeneLoc Exon Structure
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Expression
for EFCAB2 gene
(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
CGAP TAG: TAAAGATCTT
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
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EFCAB2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EFCAB2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EFCAB2 | | | 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
for EFCAB2 gene
(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.
Orthologs for EFCAB2 gene from 5/24 species (see all 24) About this table
ENSEMBL Gene Tree for EFCAB2 (if available)
TreeFam Gene Tree for EFCAB2 (if available) |
Paralogs
for EFCAB2 gene(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 CETN2 CALM3
MYL1 CETN3 TNNC1 TNNC2 CALML5 CALML6
EFCAB2 for paralogs About GeneDecksing
|
Genomic Variants
for EFCAB2 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for EFCAB2 (245133007 - 245290466 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for EFCAB2
1 CNV: 66351
1 Indel: 66355 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EFCAB2 |
|
Disorders
/ Diseases
for EFCAB2 gene
(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
|
EFCAB2 for disorders About GeneDecksing
1  disease for EFCAB2: About MalaCardsmicrocephaly
Human Genome Epidemiology (HuGE) Navigator: EFCAB2 (1 document)
Export disorders for EFCAB2 gene to outside databases
|
Publications
for EFCAB2 gene (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 |
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- 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)
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External Searches for EFCAB2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing EFCAB2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing EFCAB2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing EFCAB2 gene(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 EFCAB2 | Pharmacogenomics, SNPs, Pathways |
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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
|
Products
for EFCAB2 gene(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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for EFCAB2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EFCAB2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EFCAB2 | | | OriGene Protein Over-expression Lysate for EFCAB2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for EFCAB2 | | OriGene 3'-UTR Clone for EFCAB2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EFCAB2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EFCAB2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for EFCAB2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EFCAB2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EFCAB2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFCAB2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EFCAB2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EFCAB2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EFCAB2 |
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| | | | Search Tocris compounds for EFCAB2 |
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 | | | EFCAB2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFCAB2 |
|  |  |  | | | | Search ThermoFisher Antibodies for EFCAB2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFCAB2 |
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