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Aliases for EFCAB7 Gene

Aliases for EFCAB7 Gene

  • EF-Hand Calcium Binding Domain 7 2 3 5
  • EF-Hand Calcium-Binding Domain-Containing Protein 7 3
  • 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. Gene Ontology (GO) annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for EFCAB7 Gene

  • Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia.

Additional gene information for EFCAB7 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 EFCAB7 Gene

Genomics for EFCAB7 Gene

GeneHancer (GH) Regulatory Elements for EFCAB7 Gene

Promoters and enhancers for EFCAB7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J063522 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 717.5 +0.2 155 2.8 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ITGB3BP EFCAB7 ALG6 DOCK7 FOXD3-AS1 DLEU2L FOXD3 ENSG00000235545 ROR1 ATG4C
GH01J064345 Enhancer 0.8 ENCODE 31.2 +822.4 822392 0.2 ZSCAN4 INSM2 KLF14 ZEB1 ZNF155 ZNF335 ZNF366 ZNF416 FOS ZIK1 SLC2A3P2 ITGB3BP EFCAB7 DLEU2L ALG6 ENSG00000272506 ROR1 JAK1 LINC01359 GC01P064331
GH01J064469 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.7 +950.2 950193 8 PKNOX1 FOXA2 ARNT SIN3A FEZF1 GLI4 ZNF2 YY1 ZNF121 GLIS2 CACHD1 ITGB3BP EFCAB7 GC01P064556
GH01J064037 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +516.0 516030 3 PKNOX1 FEZF1 ZNF2 ZNF121 ZNF213 FOS SP3 REST TSHZ1 ZNF623 EFCAB7 ITGB3BP DLEU2L ROR1 UBE2U GC01P064043 LOC105378772
GH01J063592 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.8 +70.5 70514 2.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF213 ITGB3BP PGM1 GC01M063589 RPSAP65 EFCAB7 GC01M063608
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFCAB7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFCAB7 gene promoter:
  • AREB6
  • FOXL1
  • POU2F1c
  • POU2F1b
  • POU2F1a
  • POU2F1
  • Pax-2a
  • Pax-6
  • Pax-2
  • Pax-3

Genomic Locations for EFCAB7 Gene

Genomic Locations for EFCAB7 Gene
62,065 bases
Plus strand
49,352 bases
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:
    Recommended name:
    EF-hand calcium-binding domain-containing protein 7
    Protein Accession:
    Secondary Accessions:
    • Q658P0
    • Q96B95
    • Q96JM6

    Protein attributes for EFCAB7 Gene

    629 amino acids
    Molecular mass:
    71981 Da
    Quaternary structure:
    • Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE. Interacts (via EF-hand 1 and 2) with IQCE (via N-terminus); this interaction anchors the EVC-EVC2 complex in a signaling microdomain at the base of cilia and stimulates the Hedgehog (Hh) pathway. Interacts with EVC2 (via N-terminal end). Interacts with EVC.
    • Sequence=BAB47428.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EFCAB7 Gene


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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Molecular function for EFCAB7 Gene

UniProtKB/Swiss-Prot Function:
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia.

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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EFCAB7 Gene

Localization for EFCAB7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFCAB7 Gene

Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Note=The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250 UniProtKB:Q8VDY4}.

Subcellular locations from

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
plasma membrane 5
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EFCAB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005929 cilium TAS --
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with EFCAB7: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0042307 positive regulation of protein import into nucleus ISS --
GO:0045944 positive regulation of transcription by RNA polymerase II ISS --
GO:1903569 positive regulation of protein localization to ciliary membrane ISS --
genes like me logo Genes that share ontologies with EFCAB7: view

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:

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
ECgene alternative splicing isoforms for

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, 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:


SOURCE GeneReport for Unigene cluster for EFCAB7 Gene:


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

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
(Pan troglodytes)
Mammalia EFCAB7 34 33
  • 99.52 (n)
(Canis familiaris)
Mammalia EFCAB7 34 33
  • 92.05 (n)
(Bos Taurus)
Mammalia EFCAB7 34 33
  • 90.83 (n)
(Rattus norvegicus)
Mammalia Efcab7 33
  • 86.2 (n)
(Mus musculus)
Mammalia Efcab7 16 34 33
  • 85.99 (n)
(Monodelphis domestica)
Mammalia EFCAB7 34
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
-- 34
  • 61 (a)
(Gallus gallus)
Aves EFCAB7 34 33
  • 72.73 (n)
(Anolis carolinensis)
Reptilia EFCAB7 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab7 33
  • 67.25 (n)
(Danio rerio)
Actinopterygii efcab7 34 33
  • 59.78 (n)
(Caenorhabditis elegans)
Secernentea T02G5.3 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
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

Gene Tree for EFCAB7 (if available)
Gene Tree for EFCAB7 (if available)
Evolutionary constrained regions (ECRs) for EFCAB7: view image

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 Variation AA Info Type
rs1000058121 -- 63,537,312(+) T/C intron_variant
rs1000222327 -- 63,580,766(+) TTTT/TTT genic_downstream_transcript_variant, intron_variant
rs1000242096 -- 63,568,038(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000296826 -- 63,553,615(+) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000307445 -- 63,544,809(+) T/C intron_variant

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

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

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)

Additional Variant Information for EFCAB7 Gene

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

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: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. (PMID: 26748586) Nguyen TQ … Mizuguchi M (Congenital anomalies 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for EFCAB7 Gene

Sources for EFCAB7 Gene

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