Aliases for EFHD2 Gene

Aliases for EFHD2 Gene

  • EF-Hand Domain Family Member D2 2 3 5
  • EF-Hand Domain-Containing Protein D2 3 4
  • EF Hand Domain Containing 2 2 3
  • Swiprosin-1 2 4
  • SWS1 3 4
  • Testicular Tissue Protein Li 62 3
  • Swiprosin 1 3
  • MGC4342 2
  • EFHD2 5

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. Diseases associated with EFHD2 include Motion Sickness. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHD1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for EFHD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFHD2 Gene

Genomics for EFHD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EFHD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFHD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFHD2

Top Transcription factor binding sites by QIAGEN in the EFHD2 gene promoter:
  • AML1a
  • AP-4
  • GR
  • GR-alpha
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • MZF-1
  • TGIF

Genomic Locations for EFHD2 Gene

Genomic Locations for EFHD2 Gene
chr1:15,409,888-15,430,339
(GRCh38/hg38)
Size:
20,452 bases
Orientation:
Plus strand
chr1:15,736,391-15,756,839
(GRCh37/hg19)
Size:
20,449 bases
Orientation:
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:
    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.

    Three dimensional structures from OCA and Proteopedia for EFHD2 Gene

neXtProt entry for EFHD2 Gene

Post-translational modifications for EFHD2 Gene

  • Ubiquitination at Lys9
  • Modification sites at PhosphoSitePlus

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EFHD2 Gene

Suggested Antigen Peptide Sequences for EFHD2 Gene

GenScript: Design optimal peptide antigens:
  • Swiprosin-1 (EFHD2_HUMAN)
  • EF-hand domain family, member D2 (Q5JYW8_HUMAN)
genes like me logo Genes that share domains with EFHD2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EFHD2 Gene

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.

Phenotypes From GWAS Catalog for EFHD2 Gene

Gene Ontology (GO) - Molecular Function for EFHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0045296 cadherin binding HDA 25468996
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EFHD2: view
genes like me logo Genes that share phenotypes with EFHD2: view

Animal Models for EFHD2 Gene

MGI Knock Outs for EFHD2:
  • Efhd2 Efhd2<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for EFHD2 Gene

miRTarBase miRNAs that target EFHD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFHD2

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EFHD2 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EFHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with EFHD2: view

Pathways & Interactions for EFHD2 Gene

PathCards logo

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

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFHD2

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

Expression for EFHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for EFHD2 Gene



Protein tissue co-expression partners for EFHD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFHD2

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.

Evidence on tissue expression from TISSUES for EFHD2 Gene

  • Lung(4.7)
  • Liver(4.4)
  • Muscle(4.3)
  • Blood(2.9)
  • Nervous system(2.5)
  • Spleen(2.2)
  • Bone marrow(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with EFHD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EFHD2 Gene

Orthologs for EFHD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFHD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EFHD2 30
  • 99.53 (n)
Dog
(Canis familiaris)
Mammalia EFHD2 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia EFHD2 30 31
  • 94.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Efhd2 30
  • 89.54 (n)
Mouse
(Mus musculus)
Mammalia Efhd2 30 17 31
  • 89.12 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EFHD2 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EFHD2 30 31
  • 77.72 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia efhd2 30
  • 77.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii efhd2 30 31
  • 74.39 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG10641 30 31
  • 62.77 (n)
ManyToMany
CG14861 31
  • 17 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009528 30
  • 61.78 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y48B6A.6 30
  • 53.99 (n)
efhd-1 31
  • 15 (a)
OneToMany
Species where no ortholog for EFHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for EFHD2: view image

Paralogs for EFHD2 Gene

Paralogs for EFHD2 Gene

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

  • EFHD2_HUMAN
  • H0Y4Y4_HUMAN
genes like me logo Genes that share paralogs with EFHD2: view

Variants for EFHD2 Gene

Additional dbSNP identifiers (rs#s) for EFHD2 Gene

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

Variant ID Type Subtype PubMed ID
esv3585310 CNV gain 21293372
nsv460561 CNV loss 19166990
nsv545594 CNV loss 21841781
nsv833536 CNV loss 17160897

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)

Additional Variant Information for EFHD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFHD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFHD2 Gene

Disorders for EFHD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EFHD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
motion sickness
  • travel sickness
- elite association - COSMIC cancer census association via MalaCards
Search EFHD2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with EFHD2: view

No data available for 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 JD (Proteomics 2004) 3 4 23
  2. Fraternal twins: Swiprosin-1/EFhd2 and Swiprosin-2/EFhd1, two homologous EF-hand containing calcium binding adaptor proteins with distinct functions. (PMID: 21244694) Dütting S … Mielenz D (Cell communication and signaling : CCS 2011) 2 3
  3. Comparative proteomics analysis of caspase-9-protein complexes in untreated and cytochrome c/dATP stimulated lysates of NSCLC cells. (PMID: 19118655) Checińska A … Jimenez CR (Journal of proteomics 2009) 4 23
  4. Swiprosin-1 is expressed in mast cells and up-regulated through the protein kinase C beta I/eta pathway. (PMID: 19693767) Thylur RP … Jun CD (Journal of cellular biochemistry 2009) 3 23
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4

Products for EFHD2 Gene

  • Signalway ELISA kits for EFHD2
  • Signalway Proteins for EFHD2

Sources for EFHD2 Gene