Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EFHD2 Gene

Aliases for EFHD2 Gene

  • EF-Hand Domain Family Member D2 2 3 5
  • Swiprosin-1 2 3 4
  • EF Hand Domain Containing 2 2 3
  • SWS1 3 4
  • EF Hand Domain Family, Member D2 3
  • EF-Hand Domain Family, Member D2 3
  • Testicular Tissue Protein Li 62 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

Enhancers for EFHD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EFHD2 on UCSC Golden Path with GeneCards custom track

Promoters for EFHD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFHD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EFHD2 Gene

15,409,895 bp from pter
15,430,343 bp from pter
20,449 bases
Plus strand

Genomic View for EFHD2 Gene

Genes around EFHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    EF-hand domain-containing protein D2
    Protein Accession:
    Secondary Accessions:
    • Q5JYW9

    Protein attributes for EFHD2 Gene

    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:

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


Suggested Antigen Peptide Sequences for EFHD2 Gene

Graphical View of Domain Structure for InterPro Entry



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

Animal Models for EFHD2 Gene

MGI Knock Outs for EFHD2:

Animal Model Products

miRNA for EFHD2 Gene

miRTarBase miRNAs that target EFHD2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

Jensen Localization Image for EFHD2 Gene COMPARTMENTS Subcellular localization image for EFHD2 gene
Compartment Confidence
cytosol 4
nucleus 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for EFHD2 Gene

Pathways & Interactions for EFHD2 Gene

SuperPathways for EFHD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFHD2 Gene


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:

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

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

Relevant External Links for EFHD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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

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

Orthologs for EFHD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFHD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EFHD2 35
  • 94.58 (n)
  • 96.25 (a)
EFHD2 36
  • 96 (a)
(Mus musculus)
Mammalia Efhd2 35
  • 89.12 (n)
  • 93.72 (a)
Efhd2 16
Efhd2 36
  • 93 (a)
(Pan troglodytes)
Mammalia EFHD2 35
  • 99.53 (n)
  • 98.58 (a)
(Rattus norvegicus)
Mammalia Efhd2 35
  • 89.54 (n)
  • 93.72 (a)
(Canis familiaris)
Mammalia EFHD2 36
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia EFHD2 36
  • 79 (a)
(Gallus gallus)
Aves EFHD2 35
  • 77.72 (n)
  • 77.72 (a)
EFHD2 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia efhd2 35
  • 77.33 (n)
  • 85 (a)
(Danio rerio)
Actinopterygii efhd2 35
  • 74.39 (n)
  • 75.11 (a)
efhd2 36
  • 74 (a)
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)
CG14861 36
  • 17 (a)
(Caenorhabditis elegans)
Secernentea CELE_Y48B6A.6 35
  • 53.99 (n)
  • 51.09 (a)
efhd-1 36
  • 15 (a)
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

Gene Tree for EFHD2 (if available)
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
rs2496311 -- 15,422,786(-) CCTCC(C/T)GGGTT intron-variant
rs2496312 -- 15,420,252(-) AATAG(C/T)AGTTG intron-variant
rs2496313 -- 15,419,749(-) CACCC(A/G)CCAGC intron-variant
rs2496314 -- 15,419,573(-) CAGAC(G/T)GCAGG intron-variant
rs2496315 -- 15,418,786(-) CTATC(A/G)GGACA 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: 56.3% 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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for EFHD2 Gene

Disorders for EFHD2 Gene

Relevant External Links for EFHD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for EFHD2 Gene.

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

Publications for EFHD2 Gene

  1. Identification of swiprosin 1 in human lymphocytes. (PMID: 15274114) Vuadens F. … Tissot J.-D. (Proteomics 2004) 3 4 23 67
  2. 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 3
  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) 3 23
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for EFHD2 Gene

Sources for EFHD2 Gene