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Aliases for EFCAB8 Gene

Aliases for EFCAB8 Gene

  • EF-Hand Calcium Binding Domain 8 2 3 5
  • EF-Hand Calcium-Binding Domain-Containing Protein 8 3
  • EF-Hand Domain-Containing Protein ENSP00000383366 3

External Ids for EFCAB8 Gene

Previous GeneCards Identifiers for EFCAB8 Gene

  • GC20P030908
  • GC20P031446
  • GC20P028234

Summaries for EFCAB8 Gene

GeneCards Summary for EFCAB8 Gene

EFCAB8 (EF-Hand Calcium Binding Domain 8) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is WDR64.

Additional gene information for EFCAB8 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB8 Gene

Genomics for EFCAB8 Gene

GeneHancer (GH) Regulatory Elements for EFCAB8 Gene

Promoters and enhancers for EFCAB8 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
GH20J032859 Enhancer 0.5 ENCODE 650.7 +0.3 267 0.2 CTCF CTBP1 ZNF143 PRDM10 EFCAB8 PIR55937
GH20J032857 Enhancer 0.4 ENCODE 650.7 -0.5 -503 1.3 CTBP1 ZNF143 ENSG00000260257 EFCAB8 MAPRE1
GH20J032858 Enhancer 0.2 ENCODE 650.7 -1.6 -1612 0.1 EFCAB8 ENSG00000260257
GH20J032461 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 4.2 -384.6 -384593 24.7 MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 NFYC NOL4L ASXL1 TM9SF4 ENSG00000236772 ENSG00000233293 CDK5RAP1 C20orf203 PDRG1 POFUT1 KIF3B
GH20J032902 Enhancer 0.8 ENCODE 10.9 +43.7 43747 0.2 ARID4B ZNF48 RAD21 ZNF121 GLIS2 ARID2 ZNF143 MIXL1 DEK ZNF654 BPIFB4 SUN5 EFCAB8 BPIFA3 ENSG00000224876 PIR55937
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFCAB8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFCAB8 gene promoter:
  • Max1
  • c-Myc
  • C/EBPalpha
  • AML1a
  • E2F
  • E2F-1
  • CUTL1
  • c-Rel
  • NF-AT
  • NF-AT1

Genomic Locations for EFCAB8 Gene

Genomic Locations for EFCAB8 Gene
chr20:32,858,923-32,961,845
(GRCh38/hg38)
Size:
102,923 bases
Orientation:
Plus strand
chr20:31,446,729-31,549,415
(GRCh37/hg19)
Size:
102,687 bases
Orientation:
Plus strand

Genomic View for EFCAB8 Gene

Genes around EFCAB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB8 Gene

Proteins for EFCAB8 Gene

  • Protein details for EFCAB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MWE9-EFCB8_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 8
    Protein Accession:
    A8MWE9

    Protein attributes for EFCAB8 Gene

    Size:
    144 amino acids
    Molecular mass:
    16428 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EFCAB8 Gene

Post-translational modifications for EFCAB8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFCAB8 Gene

Domains & Families for EFCAB8 Gene

Gene Families for EFCAB8 Gene

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

Protein Domains for EFCAB8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFCAB8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EFCAB8: view

No data available for UniProtKB/Swiss-Prot for EFCAB8 Gene

Function for EFCAB8 Gene

Phenotypes From GWAS Catalog for EFCAB8 Gene

Gene Ontology (GO) - Molecular Function for EFCAB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with EFCAB8: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EFCAB8 Gene

Localization for EFCAB8 Gene

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 EFCAB8 gene
Compartment Confidence
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for EFCAB8 Gene

Pathways & Interactions for EFCAB8 Gene

SuperPathways for EFCAB8 Gene

No Data Available

Interacting Proteins for EFCAB8 Gene

Gene Ontology (GO) - Biological Process for EFCAB8 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFCAB8 Gene

Drugs & Compounds for EFCAB8 Gene

No Compound Related Data Available

Transcripts for EFCAB8 Gene

mRNA/cDNA for EFCAB8 Gene

(9) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB8 Gene

No ASD Table

Relevant External Links for EFCAB8 Gene

GeneLoc Exon Structure for
EFCAB8
ECgene alternative splicing isoforms for
EFCAB8

Expression for EFCAB8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCAB8 Gene

mRNA differential expression in normal tissues according to GTEx for EFCAB8 Gene

This gene is overexpressed in Testis (x19.0) and Whole Blood (x9.1).

Protein differential expression in normal tissues from HIPED for EFCAB8 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFCAB8 Gene



Protein tissue co-expression partners for EFCAB8 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFCAB8 Gene:

EFCAB8
genes like me logo Genes that share expression patterns with EFCAB8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFCAB8 Gene

Orthologs for EFCAB8 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFCAB8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB8 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MGC151671 34
  • 11 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Efcab8 34
  • 6 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 4 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 3 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB8 34
  • 1 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB8 34
  • 10 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG40583 34
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 9 (a)
OneToMany
Species where no ortholog for EFCAB8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EFCAB8 Gene

ENSEMBL:
Gene Tree for EFCAB8 (if available)
TreeFam:
Gene Tree for EFCAB8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFCAB8: view image

Paralogs for EFCAB8 Gene

Paralogs for EFCAB8 Gene

genes like me logo Genes that share paralogs with EFCAB8: view

Variants for EFCAB8 Gene

Sequence variations from dbSNP and Humsavar for EFCAB8 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000007475 -- 32,900,891(+) A/T intron_variant
rs1000022421 -- 32,949,377(+) C/G intron_variant
rs1000027549 -- 32,925,706(+) G/C intron_variant
rs1000038437 -- 32,949,869(+) G/A intron_variant
rs1000064053 -- 32,904,836(+) A/G intron_variant

Variation tolerance for EFCAB8 Gene

Gene Damage Index Score: 7.81; 83.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFCAB8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EFCAB8 Gene

Disorders for EFCAB8 Gene

Additional Disease Information for EFCAB8

No disorders were found for EFCAB8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB8 Gene

Publications for EFCAB8 Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58

Products for EFCAB8 Gene

Sources for EFCAB8 Gene

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