EFCAB7 Gene (Protein Coding)

EF-Hand Calcium Binding Domain 7

GC01P063523
GIFtS:
35
See more...

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 4
  • KIAA1799 2 4
  • RP4-534K7.1 2
  • EFCAB7 5

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 and Basal Cell Carcinoma, Infundibulocystic. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CABP2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for EFCAB7 Gene

Genomics for EFCAB7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for EFCAB7 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 EFCAB7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFCAB7

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

Genomic Locations for EFCAB7 Gene

Latest Assembly
chr1:63,523,321-63,585,401
(GRCh38/hg38)
Size:
62,081 bases
Orientation:
Plus strand

Previous Assembly
chr1:63,989,196-64,038,364
(GRCh37/hg19 by Entrez Gene)
Size:
49,169 bases
Orientation:
Plus strand

chr1:63,989,043-64,038,364
(GRCh37/hg19 by Ensembl)
Size:
49,322 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 Structure • Gene Density

RefSeq DNA sequence for EFCAB7 Gene

Proteins for EFCAB7 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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:
    • 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.
    SequenceCaution:
    • Sequence=BAB47428.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EFCAB7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFCAB7 Gene

Protein Expression for EFCAB7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EFCAB7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFCAB7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFCAB7 Gene

Domains & Families for EFCAB7 Gene

Gene Families for EFCAB7 Gene

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

Protein Domains for EFCAB7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFCAB7 Gene

GenScript: Design optimal peptide antigens:
  • EF-hand calcium-binding domain-containing protein 7 (EFCB7_HUMAN)
genes like me logo Genes that share domains with EFCAB7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EFCAB7 Gene

Function for EFCAB7 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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.

Phenotypes From GWAS Catalog 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
genes like me logo Genes that share phenotypes with EFCAB7: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB7

No data available for 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 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

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
plasma membrane 4
nucleus 3
cytosol 3
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoli rim (2)
  • Nucleoplasm (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 IEA,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

1 KEGG pathway 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 IEA,ISS --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA,ISS --
GO:1903569 positive regulation of protein localization to ciliary membrane IEA,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

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for EFCAB7 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for EFCAB7 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB7

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

No ASD Table

Relevant External Links for EFCAB7 Gene

GeneLoc Exon Structure for
EFCAB7

Expression for EFCAB7 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for EFCAB7 Gene
mRNA expression by BioGPS for EFCAB7 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFCAB7

SOURCE GeneReport for Unigene cluster for EFCAB7 Gene:

Hs.652324

Evidence on tissue expression from TISSUES for EFCAB7 Gene

  • Nervous system(4.5)
  • Skin(4.2)
  • Kidney(4.2)
  • Stomach(4.1)
genes like me logo Genes that share expression patterns with EFCAB7: view

Primer products for research

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 30 31
  • 99.52 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia EFCAB7 30 31
  • 92.05 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia EFCAB7 30 31
  • 90.83 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Efcab7 30
  • 86.2 (n)
Mouse
(Mus musculus)
 Mammalia Efcab7 30 17 31
  • 85.99 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia EFCAB7 31
  • 72 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 71 (a)
 OneToMany
-- 31
  • 61 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves EFCAB7 30 31
  • 72.73 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia EFCAB7 31
  • 59 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia efcab7 30
  • 67.25 (n)
Zebrafish
(Danio rerio)
 Actinopterygii efcab7 30 31
  • 59.78 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea T02G5.3 31
  • 20 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 40 (a)
 OneToOne
Species where no ortholog for EFCAB7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EFCAB7: view image

Paralogs for EFCAB7 Gene

Paralogs for EFCAB7 Gene

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

  • EFCB7_HUMAN
genes like me logo Genes that share paralogs with EFCAB7: view

Variants for EFCAB7 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFCAB7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs74568205 Benign: not provided 63,571,026(+) T/G
NM_032437.4(EFCAB7):c.1713T>G (p.Asp571Glu) 		MISSENSE
rs9436246 Benign: not provided. - 63,533,523(+) A/Gp.Ser186Gly
NM_032437.4(EFCAB7):c.556A>G (p.Ser186Gly) 		MISSENSE
rs17125106 - p.Phe27Ile
rs2273367 - p.Arg375Lys
rs6657480 - p.Met262Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EFCAB7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for EFCAB7 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for EFCAB7 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EFCAB7 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
ellis-van creveld syndrome
  • evc
basal cell carcinoma, infundibulocystic
  • basal cell carcinoma with follicular differentiation
weyers acrofacial dysostosis
  • wad
otopalatodigital syndrome, type ii
  • opd2
syndactyly, type iv
  • sdty4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EFCAB7

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  4. Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins. (PMID: 29845660) Nguyen TQN … Mizuguchi M (Congenital anomalies 2019) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

ExternalLinks

View latest publications for EFCAB7 gene in Mastermind

Products for EFCAB7 Gene

Sources for EFCAB7 Gene