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Aliases for EFCAB7 Gene

Aliases for EFCAB7 Gene

  • EF-Hand Calcium Binding Domain 7 2 3 5
  • KIAA1799 4

External Ids for EFCAB7 Gene

Previous GeneCards Identifiers for EFCAB7 Gene

  • GC01P063761
  • GC01P063989
  • GC01P062097

Summaries for EFCAB7 Gene

GeneCards Summary for EFCAB7 Gene

EFCAB7 (EF-Hand Calcium Binding Domain 7) is a Protein Coding gene. Diseases associated with EFCAB7 include Ellis-Van Creveld Syndrome. Among its related pathways are Signaling by Hedgehog and Signaling by GPCR. GO annotations related to this gene include calcium ion binding.

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 EFCAB7 Gene

Genomics for EFCAB7 Gene

Regulatory Elements for EFCAB7 Gene

Enhancers for EFCAB7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G063522 1.2 ENCODE 46.4 +0.2 156 2.8 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ITGB3BP EFCAB7 DLEU2L FOXD3-AS1 FOXD3 ROR1 ALG6 LOC441887 RN7SL488P
GH01G064342 1.2 Ensembl ENCODE 31.8 +820.7 820690 3.1 ZFP64 FEZF1 GLIS2 GATA2 FOS SP3 TSHZ1 REST ZNF579 MBD2 EFCAB7 LINC01359 ROR1 UBE2U GC01P064331 LOC105378774
GH01G064345 0.9 ENCODE 40.7 +822.4 822392 0.2 ZSCAN4 INSM2 ZEB1 ZNF155 ZNF366 ZNF416 FOS ZNF391 ZIK1 ZNF398 EFCAB7 SLC2A3P2 LINC01359 ROR1 JAK1 DLEU2L GC01P064331 LOC105378774
GH01G064469 1.5 Ensembl ENCODE dbSUPER 19 +950.2 950194 8.0 PKNOX1 ARNT SIN3A FEZF1 GLI4 ZNF2 YY1 ZNF121 GLIS2 GATA2 EFCAB7 CACHD1 GC01P064556
GH01G063932 0.9 dbSUPER 30.4 +409.3 409315 1.1 ZFP64 ZNF366 ZNF354C ZNF680 ZNF654 ZBTB11 ZNF426 REST ZNF623 ZNF781 EFCAB7 ROR1 DLEU2L GC01M063941 GC01M063862
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFCAB7 on UCSC Golden Path with GeneCards custom track

Promoters for EFCAB7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000007691 99 2001 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for EFCAB7 Gene

Chromosome:
1
Start:
63,523,301 bp from pter
End:
63,585,365 bp from pter
Size:
62,065 bases
Orientation:
Plus strand

Genomic View for EFCAB7 Gene

Genes around EFCAB7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB7 Gene

Proteins for EFCAB7 Gene

  • Protein details for EFCAB7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8K855-EFCB7_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 7
    Protein Accession:
    A8K855
    Secondary Accessions:
    • Q658P0
    • Q96B95
    • Q96JM6

    Protein attributes for EFCAB7 Gene

    Size:
    629 amino acids
    Molecular mass:
    71981 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB47428.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EFCAB7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFCAB7 Gene

Post-translational modifications for EFCAB7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCAB7 Gene

No data available for DME Specific Peptides for EFCAB7 Gene

Domains & Families for EFCAB7 Gene

Gene Families for EFCAB7 Gene

Protein Domains for EFCAB7 Gene

Suggested Antigen Peptide Sequences for EFCAB7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EFCAB7: view

No data available for UniProtKB/Swiss-Prot for EFCAB7 Gene

Function for EFCAB7 Gene

Gene Ontology (GO) - Molecular Function for EFCAB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EFCAB7: view

Phenotypes for EFCAB7 Gene

genes like me logo Genes that share phenotypes with EFCAB7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EFCAB7 Gene

Localization for EFCAB7 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 EFCAB7 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for EFCAB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium TAS --
genes like me logo Genes that share ontologies with EFCAB7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EFCAB7 Gene

Pathways & Interactions for EFCAB7 Gene

genes like me logo Genes that share pathways with EFCAB7: view

Pathways by source for EFCAB7 Gene

Gene Ontology (GO) - Biological Process for EFCAB7 Gene

None

No data available for SIGNOR curated interactions for EFCAB7 Gene

Drugs & Compounds for EFCAB7 Gene

No Compound Related Data Available

Transcripts for EFCAB7 Gene

Unigene Clusters for EFCAB7 Gene

EF-hand calcium binding domain 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB7 Gene

No ASD Table

Relevant External Links for EFCAB7 Gene

GeneLoc Exon Structure for
EFCAB7
ECgene alternative splicing isoforms for
EFCAB7

Expression for EFCAB7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFCAB7 Gene

Protein differential expression in normal tissues from HIPED for EFCAB7 Gene

This gene is overexpressed in Fetal heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EFCAB7 Gene



Protein tissue co-expression partners for EFCAB7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EFCAB7 Gene:

EFCAB7

SOURCE GeneReport for Unigene cluster for EFCAB7 Gene:

Hs.652324

Evidence on tissue expression from TISSUES for EFCAB7 Gene

  • Nervous system(4.4)
  • Kidney(4.2)
  • Skin(4.1)
  • Stomach(4.1)
genes like me logo Genes that share expression patterns with EFCAB7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFCAB7 Gene

Orthologs for EFCAB7 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFCAB7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB7 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia EFCAB7 34 35
  • 92.05 (n)
cow
(Bos Taurus)
Mammalia EFCAB7 34 35
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Efcab7 34
  • 86.2 (n)
mouse
(Mus musculus)
Mammalia Efcab7 34 16 35
  • 85.99 (n)
oppossum
(Monodelphis domestica)
Mammalia EFCAB7 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves EFCAB7 34 35
  • 72.73 (n)
lizard
(Anolis carolinensis)
Reptilia EFCAB7 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab7 34
  • 67.25 (n)
zebrafish
(Danio rerio)
Actinopterygii efcab7 34 35
  • 59.78 (n)
worm
(Caenorhabditis elegans)
Secernentea T02G5.3 35
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for EFCAB7 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for EFCAB7 Gene

ENSEMBL:
Gene Tree for EFCAB7 (if available)
TreeFam:
Gene Tree for EFCAB7 (if available)

Paralogs for EFCAB7 Gene

(3) SIMAP similar genes for EFCAB7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EFCAB7: view

No data available for Paralogs for EFCAB7 Gene

Variants for EFCAB7 Gene

Sequence variations from dbSNP and Humsavar for EFCAB7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000058121 -- 63,537,312(+) AGAGA(C/T)GCAAT intron-variant
rs1000222327 -- 63,580,766(+) TGTAG(-/T)TTTCA intron-variant
rs1000242096 -- 63,568,038(+) GAGAT(A/G)GTATT intron-variant
rs1000296826 -- 63,553,615(+) TTACA(A/G)GCTTG intron-variant, downstream-variant-500B
rs1000307445 -- 63,544,809(+) ATTTC(C/T)TTTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB7 Gene

Variant ID Type Subtype PubMed ID
esv3586246 CNV loss 21293372
nsv1001451 CNV loss 25217958
nsv1143 CNV insertion 18451855
nsv461672 CNV gain 19166990
nsv470714 CNV gain 18288195
nsv510935 OTHER complex 20534489
nsv546433 CNV gain 21841781
nsv546434 CNV loss 21841781
nsv823076 CNV gain 20364138

Variation tolerance for EFCAB7 Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.66; 93.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFCAB7 Gene

Human Gene Mutation Database (HGMD)
EFCAB7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB7 Gene

Disorders for EFCAB7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EFCAB7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ellis-van creveld syndrome
  • chondroectodermal dysplasia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EFCAB7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFCAB7
genes like me logo Genes that share disorders with EFCAB7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EFCAB7 Gene

Publications for EFCAB7 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. (PMID: 26748586) Nguyen T.Q. … Mizuguchi M. (Congenit Anom (Kyoto) 2016) 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64

Products for EFCAB7 Gene

Sources for EFCAB7 Gene

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