EFHD2 Gene
protein-coding GIFtS: 47
GCID: GC01P015736
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EF-hand domain family, member D2(Previous name: EF hand domain containing 2 )
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Aliases
for EFHD2 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 Domain Family, Member D21 2 | | EF-Hand Domain-Containing Protein D22 | | EF Hand Domain Containing 21 2 | | Swiprosin 12 | | SWS12 3 | | Swiprosin-13 | | MGC43421 | | Swiprosin-13 | | EF Hand Domain Family, Member D22 | | |
Export aliases for EFHD2 gene to outside databasesPrevious GC identifers: GC01P015099 GC01P015481 GC01P015609 GC01P014256 |
Summaries
for EFHD2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: EFHD2_HUMAN, Q96C19Function: May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis (By similarity). Plays arole as negative regulator of the canonical NF-kappa-B-activating branch (By similarity). Controls spontaneousapoptosis through the regulation of BCL2L1 abundance (By similarity)
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Genomic Views
for EFHD2 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_004610.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the EFHD2 gene promoter:
HOXA9B HOXA9 GR AML1a AP-4 Meis-1b MZF-1 GR-alpha TGIF Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for EFHD2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFHD2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.21 Ensembl cytogenetic band: 1p36.21 HGNC cytogenetic band: 1p36EFHD2 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 GC01P015736: view genomic region
(about GC identifiers)
Start:
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15,736,391 bp from pter |
End:
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15,756,839 bp from pter |
Size:
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20,449 bases |
Orientation:
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plus strand |
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Proteins
for EFHD2 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: EFHD2_HUMAN, Q96C19 (See
protein sequence)Recommended Name: EF-hand domain-containing protein D2 Size: 240 amino acids; 26697 Da
Subunit: Interacts with CASP9; with inactive form
Subcellular location: Membrane raft (By similarity). Note=In a mouse immature B-cell line WEHI-231 (By similarity)
Secondary accessions: Q5JYW9Explore the universe of human proteins at neXtProt for EFHD2: NX_Q96C19
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96C19
EFHD2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_077305.2
ENSEMBL proteins: ENSP00000365147 ENSP00000395153
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0045121 | membrane raft |
IEA | -- |
EFHD2 for ontologies About GeneDecksing
EFHD2 Antibody Products:
Assay Products for EFHD2: |
Protein
Domains /
Families
for EFHD2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
EFHD2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96C19ProtoNet protein and cluster: Q96C19 UniProtKB/Swiss-Prot: EFHD2_HUMAN, Q96C19Similarity: Contains 2 EF-hand domains |
Function
for EFHD2 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
|
Function Summary:
UniProtKB/Swiss-Prot: EFHD2_HUMAN, Q96C19Function: May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis (By similarity). Plays arole as negative regulator of the canonical NF-kappa-B-activating branch (By similarity). Controls spontaneousapoptosis through the regulation of BCL2L1 abundance (By similarity)
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 EFHD2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EFHD2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for EFHD2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFHD2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHD2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005509 | calcium ion binding |
IEA | -- | | GO:0005515 | protein binding |
-- | -- |
EFHD2 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for EFHD2:
|
Pathways & Interactions
for EFHD2 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 EFHD2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 10)
5/13 Interacting proteins for EFHD2 (Q96C192, 3 ENSP000003651474) via UniProtKB, MINT, STRING, and/or I2D (see all 13)About this table
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Drugs & Compounds
for EFHD2 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 EFHD2
Search CenterWatch for drugs/clinical trials and news about EFHD2
|
Transcripts
for EFHD2 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 EFHD2 gene: NM_024329.5 Unigene Cluster for EFHD2: EF-hand domain family, member D2 Hs.465374 [show with all ESTs]Unigene Representative Sequence: NM_0243292 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000375980(uc001awh.2) ENST00000445566
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EFHD2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EFHD2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: EFHD2 (NM_024329) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EFHD2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFHD2 |
Additional cDNA sequence: BC003033.1 BC007233.1 BC013648.1 BC014923.2 BC023611.2 BC068473.1 11 DOTS entries: DT.100810726 DT.444652 DT.100810735 DT.91753030 DT.100810732 DT.100715730 DT.121358572 DT.100696195 DT.95364895 DT.95194306 DT.95194309 24/362 AceView cDNA sequences (see all 362): BU676067 AA365566 AI418046 BM047543 AI807904 BM820151 AI151053 BQ947371 CD364347 CA306301 BM853186 CR616014 BM719552 BQ230509 BE531131 BU145649 BU543148 BM023619 CB050172 BU148475 CA309996 CA433833 BQ052713 BM793874
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for EFHD2 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c |
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| SP1: | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | | | | | | | |
| SP3: | | | | | - | | - | | | | | | | |
ECgene alternative splicing isoforms for EFHD2
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Expression
for EFHD2 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
| EFHD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGTGTGCCTG
About this image
See EFHD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EFHD2
SOURCE GeneReport for Unigene cluster: Hs.465374
UniProtKB/Swiss-Prot: EFHD2_HUMAN, Q96C19Tissue specificity: Found in lymphocytes; preferentially expressed in CD8+ cells
SABiosciences Custom PCR Arrays for EFHD2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EFHD2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EFHD2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EFHD2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EFHD2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHD2 |
Orthologs
for EFHD2 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 EFHD2 gene from 5/14 species (see all 14) About this table
ENSEMBL Gene Tree for EFHD2 (if available)
TreeFam Gene Tree for EFHD2 (if available) |
Paralogs
for EFHD2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for EFHD2 gene
- EFHD12
6 SIMAP similar genes for EFHD2 using alignment to 2 protein entries: EFHD2_HUMAN (see all proteins):FLJ13612 PP1187 MST133 EFHD1 AIF1L AIF1
EFHD2 for paralogs About GeneDecksing
|
Genomic Variants
for EFHD2 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 EFHD2 (15736391 - 15756839 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for EFHD2: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EFHD2 |
|
Disorders
/ Diseases
for EFHD2 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
|
EFHD2 for disorders About GeneDecksing
1  disease for EFHD2: About MalaCardsschizophrenia
Export disorders for EFHD2 gene to outside databases
|
Publications
for EFHD2 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 EFHD2 gene, integrated from 9 sources (see all 28):
(articles sorted by number of sources associating them with EFHD2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of swiprosin 1 in human lymphocytes. (PubMed id 15274114)1, 2, 9 Vuadens F....Tissot J.-D. (2004)
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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)
- Identification of specific proteins in different lymphocyte populations by proteomic tools. (PubMed id 11788997)1, 2 Vuadens F.... Tissot J.-D. (2002)
- Swiprosin-1 is expressed in mast cells and up-regulat ed through the protein kinase C beta I/eta pathway. (PubMed id 19693767)1, 9 Thylur R.P....Jun C.D. (2009)
- Comparative proteomics analysis of caspase-9-protein complexes in untreated and cytochrome c/dATP stimulated lysates of NSCLC cells. (PubMed id 19118655)2, 9 Checinska A.... Jimenez C.R. (2009)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
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External Searches for EFHD2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing EFHD2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing EFHD2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing EFHD2 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 EFHD2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for EFHD2 gene:
Search GeneIP for patents involving EFHD2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for EFHD2 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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variant library, vector shuttling | | | OriGene Custom Antibody Services for EFHD2 | | OriGene Custom Protein Services for EFHD2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EFHD2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EFHD2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFHD2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EFHD2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EFHD2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EFHD2 |
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 | | | EFHD2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHD2 |
|  |  |  | | | | ThermoFisher Antibody for EFHD2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFHD2 |
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