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Aliases for EFHD2 Gene

Aliases for EFHD2 Gene

  • EF-Hand Domain Family, Member D2 2 3
  • Swiprosin-1 2 3 4
  • EF Hand Domain Containing 2 2 3
  • SWS1 3 4
  • EF Hand Domain Family, Member D2 3
  • Swiprosin 1 3

External Ids for EFHD2 Gene

Previous GeneCards Identifiers for EFHD2 Gene

  • GC01P015099
  • GC01P015481
  • GC01P015609
  • GC01P015736
  • GC01P014256

Summaries for EFHD2 Gene

GeneCards Summary for EFHD2 Gene

EFHD2 (EF-Hand Domain Family, Member D2) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHD1.

UniProtKB/Swiss-Prot for EFHD2 Gene

  • May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFHD2 Gene

Genomics for EFHD2 Gene

Regulatory Elements for EFHD2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EFHD2 Gene

Chromosome:
1
Start:
15,409,895 bp from pter
End:
15,430,343 bp from pter
Size:
20,449 bases
Orientation:
Plus strand

Genomic View for EFHD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EFHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFHD2 Gene

Proteins for EFHD2 Gene

  • Protein details for EFHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C19-EFHD2_HUMAN
    Recommended name:
    EF-hand domain-containing protein D2
    Protein Accession:
    Q96C19
    Secondary Accessions:
    • Q5JYW9

    Protein attributes for EFHD2 Gene

    Size:
    240 amino acids
    Molecular mass:
    26697 Da
    Quaternary structure:
    • Interacts with CASP9; with inactive form.

neXtProt entry for EFHD2 Gene

Proteomics data for EFHD2 Gene at MOPED

Post-translational modifications for EFHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EFHD2 Gene

Domains & Families for EFHD2 Gene

Gene Families for EFHD2 Gene

Protein Domains for EFHD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFHD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96C19

UniProtKB/Swiss-Prot:

EFHD2_HUMAN :
  • Contains 2 EF-hand domains.
Domain:
  • Contains 2 EF-hand domains.
genes like me logo Genes that share domains with EFHD2: view

Function for EFHD2 Gene

Molecular function for EFHD2 Gene

UniProtKB/Swiss-Prot Function:
May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance.

Gene Ontology (GO) - Molecular Function for EFHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with EFHD2: view
genes like me logo Genes that share phenotypes with EFHD2: view

miRNA for EFHD2 Gene

miRTarBase miRNAs that target EFHD2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EFHD2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EFHD2 Gene

Localization for EFHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFHD2 Gene

Membrane raft. Note=In a mouse immature B-cell line WEHI-231. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFHD2 Gene COMPARTMENTS Subcellular localization image for EFHD2 gene
Compartment Confidence
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for EFHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with EFHD2: view

Pathways & Interactions for EFHD2 Gene

SuperPathways for EFHD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFHD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFHD2 Gene

Drugs & Compounds for EFHD2 Gene

No Compound Related Data Available

Transcripts for EFHD2 Gene

mRNA/cDNA for EFHD2 Gene

Unigene Clusters for EFHD2 Gene

EF-hand domain family, member D2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EFHD2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFHD2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1:
SP2: -
SP3: - -

Relevant External Links for EFHD2 Gene

GeneLoc Exon Structure for
EFHD2
ECgene alternative splicing isoforms for
EFHD2

Expression for EFHD2 Gene

mRNA expression in normal human tissues for EFHD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFHD2 Gene

This gene is overexpressed in Whole Blood (x15.4).

Protein differential expression in normal tissues from HIPED for EFHD2 Gene

This gene is overexpressed in NK cells (23.8) and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EFHD2 Gene



SOURCE GeneReport for Unigene cluster for EFHD2 Gene Hs.465374

mRNA Expression by UniProt/SwissProt for EFHD2 Gene

Q96C19-EFHD2_HUMAN
Tissue specificity: Found in lymphocytes; preferentially expressed in CD8+ cells.
genes like me logo Genes that share expression patterns with EFHD2: view

Protein tissue co-expression partners for EFHD2 Gene

Primer Products

In Situ Assay Products

Orthologs for EFHD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFHD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EFHD2 35
  • 94.58 (n)
  • 96.25 (a)
EFHD2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efhd2 35
  • 89.12 (n)
  • 93.72 (a)
Efhd2 16
Efhd2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EFHD2 35
  • 99.53 (n)
  • 98.58 (a)
rat
(Rattus norvegicus)
Mammalia Efhd2 35
  • 89.54 (n)
  • 93.72 (a)
dog
(Canis familiaris)
Mammalia EFHD2 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFHD2 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFHD2 35
  • 77.72 (n)
  • 77.72 (a)
EFHD2 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efhd2 35
  • 77.33 (n)
  • 85 (a)
zebrafish
(Danio rerio)
Actinopterygii efhd2 35
  • 74.39 (n)
  • 75.11 (a)
efhd2 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009528 35
  • 61.78 (n)
  • 58.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10641 35
  • 62.77 (n)
  • 57.98 (a)
CG10641 36
  • 51 (a)
ManyToMany
CG14861 36
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_Y48B6A.6 35
  • 53.99 (n)
  • 51.09 (a)
efhd-1 36
  • 15 (a)
OneToMany
Species with no ortholog for EFHD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EFHD2 Gene

ENSEMBL:
Gene Tree for EFHD2 (if available)
TreeFam:
Gene Tree for EFHD2 (if available)

Paralogs for EFHD2 Gene

Paralogs for EFHD2 Gene

(6) SIMAP similar genes for EFHD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EFHD2: view

Variants for EFHD2 Gene

Sequence variations from dbSNP and Humsavar for EFHD2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2473352 -- 15,417,958(+) TGCAC(A/G)AGGAG intron-variant
rs2473353 -- 15,418,582(+) ttaca(A/G)gcggg intron-variant
rs2473354 -- 15,422,744(+) tagtc(A/C/G)cagct intron-variant
rs2473355 -- 15,423,721(+) GCGAA(A/G)GGAGC intron-variant
rs2473356 -- 15,427,988(+) TTGCT(C/T)TGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFHD2 Gene

Variant ID Type Subtype PubMed ID
nsv833536 CNV Loss 17160897
nsv460561 CNV Loss 19166990

Variation tolerance for EFHD2 Gene

Residual Variation Intolerance Score: 56.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFHD2 Gene

HapMap Linkage Disequilibrium report
EFHD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFHD2 Gene

Disorders for EFHD2 Gene

Relevant External Links for EFHD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFHD2
genes like me logo Genes that share disorders with EFHD2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFHD2 Gene

Publications for EFHD2 Gene

  1. Fraternal twins: Swiprosin-1/EFhd2 and Swiprosin-2/EFhd1, two homologous EF-hand containing calcium binding adaptor proteins with distinct functions. (PMID: 21244694) DA1tting S. … Mielenz D. (Cell Commun. Signal 2011) 2 67
  2. Comparative proteomics analysis of caspase-9-protein complexes in untreated and cytochrome c/dATP stimulated lysates of NSCLC cells. (PMID: 19118655) Checinska A. … Jimenez C.R. (J. Proteomics 2009) 23 67
  3. Swiprosin-1 is expressed in mast cells and up-regulated through the protein kinase C beta I/eta pathway. (PMID: 19693767) Thylur R.P. … Jun C.D. (J. Cell. Biochem. 2009) 23 67
  4. Swiprosin-1 Regulates Cytokine Expression of Human Mast Cell Line HMC-1 through Actin Remodeling. (PMID: 20157615) Ramesh T.P. … Kim S.W. (Immune Netw 2009) 23 67
  5. Lipid rafts associate with intracellular B cell receptors and exhibit a B cell stage-specific protein composition. (PMID: 15749887) Mielenz D. … JAock H.M. (J. Immunol. 2005) 23 67

Products for EFHD2 Gene

Sources for EFHD2 Gene

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