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Aliases for EFHD2 Gene

Aliases for EFHD2 Gene

  • EF-Hand Domain Family Member D2 2 3 5
  • EF Hand Domain Containing 2 2 3
  • Swiprosin-1 2 4
  • SWS1 3 4
  • EF-Hand Domain-Containing Protein 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. Gene Ontology (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.

Additional gene information for EFHD2 Gene

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

Genomics for EFHD2 Gene

GeneHancer (GH) Regulatory Elements for EFHD2 Gene

Promoters and enhancers for EFHD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J015406 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 673.4 +3.7 3749 13.8 HDGF PKNOX1 SIN3A IRF4 ZNF143 FOS SP3 JUNB ZNF592 RFX3 EFHD2 LOC101927441 SPEN CTRC LOC101927417 ENSG00000237938 FHAD1 RPL22P3 RPS16P1 FBXO42
GH01J015829 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +424.1 424106 9.6 MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SPEN ZBTB17 ENSG00000237938 ARHGEF19 CROCC CLCNKA NECAP2 CD24P1 RNU1-1 FLJ37453
GH01J015678 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.3 +272.5 272462 8 PKNOX1 YBX1 YY1 POLR2B GLIS2 ZNF143 FOS ATF7 RUNX3 JUNB PLEKHM2 ENSG00000271742 SPEN CROCCP3 CASP9 SLC25A34 LINC01772 CROCCP2 ZBTB17 RPL22P3
GH01J015258 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.3 -149.2 -149217 3.8 PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A FOS JUNB REST TMEM51-AS1 FHAD1 LOC101927417 PLEKHM2 SPEN ENSG00000237301 TMEM51 EFHD2 CASP9 PIR39012
GH01J015245 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -163.3 -163306 2.3 SIN3A ZNF121 GLIS2 ZNF143 ZNF207 KLF13 SP3 ZNF623 RFX3 GLIS1 FHAD1 ENSG00000237938 LOC101927417 ARHGEF19 RPS16P1 PLEKHM2 TMEM51 EFHD2 CASP9 PIR39012
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFHD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFHD2 gene promoter:

Genomic Locations for EFHD2 Gene

Genomic Locations for EFHD2 Gene
chr1:15,409,895-15,430,343
(GRCh38/hg38)
Size:
20,449 bases
Orientation:
Plus strand
chr1:15,736,391-15,756,839
(GRCh37/hg19)

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

  • 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

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

Protein Domains for EFHD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFHD2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 IDA 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

Clone Products

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

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

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

(362) Selected AceView cDNA sequences:
(6) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EFHD2 Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of EFHD2 Gene:

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(4.6)
  • Liver(4.2)
  • Muscle(4.1)
  • Blood(2.5)
  • Nervous system(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 33
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia EFHD2 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFHD2 34 33
  • 94.58 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efhd2 33
  • 89.54 (n)
mouse
(Mus musculus)
Mammalia Efhd2 16 34 33
  • 89.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFHD2 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFHD2 34 33
  • 77.72 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efhd2 33
  • 77.33 (n)
zebrafish
(Danio rerio)
Actinopterygii efhd2 34 33
  • 74.39 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10641 34 33
  • 62.77 (n)
ManyToMany
CG14861 34
  • 17 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009528 33
  • 61.78 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y48B6A.6 33
  • 53.99 (n)
efhd-1 34
  • 15 (a)
OneToMany
Species where no ortholog for EFHD2 was found in the sources mined by GeneCards:
  • 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)
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

Sequence variations from dbSNP and Humsavar for EFHD2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000093085 -- 15,423,266(+) G/A intron_variant
rs1000244601 -- 15,421,762(+) T/G intron_variant
rs1000271375 -- 15,411,060(+) C/T intron_variant
rs1000622675 -- 15,422,233(+) C/T intron_variant
rs1000637696 -- 15,427,367(+) C/T intron_variant

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 for EFHD2 Gene

Disorders for EFHD2 Gene

Additional Disease Information for EFHD2

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 JD (Proteomics 2004) 3 4 22 58
  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 58
  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 22 58
  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 22 58
  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 58

Products for EFHD2 Gene

Sources for EFHD2 Gene

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