Aliases for EFCAB7 Gene
Aliases for EFCAB7 Gene
External Ids for EFCAB7 Gene
- HGNC: 29379
- Entrez Gene: 84455
- Ensembl: ENSG00000203965
- OMIM: 617632
- UniProtKB: A8K855
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. An important paralog of this gene is CALM3.
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 for EFCAB7 Gene
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 UCSC Golden Path with GeneCards custom track
- 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
Genomic Locations for EFCAB7 Gene
- chr1:63,523,301-63,585,365
- (GRCh38/hg38)
- Size:
- 62,065 bases
- Orientation:
- Plus strand
- chr1:63,989,013-64,038,364
- (GRCh37/hg19)
- Size:
- 49,352 bases
- Orientation:
- Plus strand
Genomic View for EFCAB7 Gene
Genes around EFCAB7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
EFCAB7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for EFCAB7 Gene
Post-translational modifications for EFCAB7 Gene
Other Protein References for EFCAB7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-EFCAB7 Antibody (HPA029613), Anti-EFCAB7 Antibody (HPA029612), and Anti-EFCAB7 Antibody (HPA029611)
- Novus Biologicals Antibodies for EFCAB7
- Invitrogen Antibodies for EFCAB7 (AFLGC-EFCAB7)
- antibodies-online: Show 9 available EFCAB7 Antibodies ranked by validation data
-
Biorbyt antibodies for EFCAB7
Protein Products
-
OriGene Purified Proteins for EFCAB7
- Search Origene for MassSpec and Protein Over-expression Lysates for EFCAB7
- Origene Custom Protein Services for EFCAB7
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)
No data available for Graphical View of Domain Structure and 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.
Phenotypes From GWAS Catalog for EFCAB7 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for EFCAB7 Gene
- GenomeRNAi human phenotypes for EFCAB7:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EFCAB7 - Select products 50% OFF >
- * EFCAB7 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * EFCAB7 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for EFCAB7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EFCAB7
- genomics-online: gRNA clones - Search for available EFCAB7 gRNA products
- Overview of 93 available EFCAB7 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for EFCAB7
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for EFCAB7
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB7
- genomics-online: shRNA clones - Search for available EFCAB7 shRNA products
- Overview of 93 available EFCAB7 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for EFCAB7 - Select products 50% OFF >
- * EFCAB7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * EFCAB7 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for EFCAB7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EFCAB7
- genomics-online: cdna clones - Search for available EFCAB7 CDNA products
- Overview of 93 available EFCAB7 gene related products
- orf clones - Search for available EFCAB7 ORF products
- Overview of 93 available EFCAB7 gene related products
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| nucleus | 3 |
| cytosol | 3 |
- Cytosol (2)
- Nucleoli (2)
- Nucleus (2)
- Plasma membrane (2)
| 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 | -- |
Pathways & Interactions for EFCAB7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by Hedgehog | ||
| 2 | Signaling by GPCR | ||
Pathways by source for EFCAB7 Gene
4 Reactome pathways for EFCAB7 Gene
Interacting Proteins for EFCAB7 Gene
GPS-Prot Interaction Network for EFCAB7
| 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 | -- |
No data available for SIGNOR curated interactions for EFCAB7 Gene
Transcripts for EFCAB7 Gene
mRNA/cDNA for EFCAB7 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (69) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000480886 625 bps (ENST00000480886.1)
- ENST00000371088 2178 bps (ENST00000371088.4)
- ENST00000493605 346 bps (ENST00000493605.1)
- ENST00000496956 388 bps (ENST00000496956.1)
- ENST00000460678 1097 bps (ENST00000460678.6)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EFCAB7 - Select products 50% OFF >
- * EFCAB7 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * EFCAB7 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for EFCAB7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EFCAB7
- genomics-online: gRNA clones - Search for available EFCAB7 gRNA products
- Overview of 93 available EFCAB7 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for EFCAB7
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for EFCAB7
- Browse OriGene Inhibitory RNA Products For EFCAB7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFCAB7
- genomics-online: shRNA clones - Search for available EFCAB7 shRNA products
- Overview of 93 available EFCAB7 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for EFCAB7 - Select products 50% OFF >
- * EFCAB7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * EFCAB7 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for EFCAB7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EFCAB7
- genomics-online: cdna clones - Search for available EFCAB7 CDNA products
- Overview of 93 available EFCAB7 gene related products
- orf clones - Search for available EFCAB7 ORF products
- Overview of 93 available EFCAB7 gene related products
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of EFCAB7 Gene:
EFCAB7SOURCE GeneReport for Unigene cluster for EFCAB7 Gene:
Hs.652324Evidence on tissue expression from TISSUES for EFCAB7 Gene
- Nervous system(4.4)
- Kidney(4.2)
- Skin(4.1)
- Stomach(4.1)
Primer Products
-
OriGene qPCR primer pairs for EFCAB7
-
OriGene qPCR primer pairs and template standards for EFCAB7
- genomics-online: primer clones - Search for available EFCAB7 Primer products
- Overview of 93 available EFCAB7 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EFCAB7 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EFCAB7 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EFCAB7 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Efcab7 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Efcab7 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EFCAB7 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | EFCAB7 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EFCAB7 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | efcab7 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | efcab7 33 32 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | T02G5.3 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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)
- 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
Variants 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/G | intron_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB7 Gene
Disorders for EFCAB7 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ellis-van creveld syndrome |
|
|
Search EFCAB7 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for EFCAB7
No data available for UniProtKB/Swiss-Prot and Genatlas for EFCAB7 Gene
Publications for EFCAB7 Gene
- 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 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
- Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins. (PMID: 29845660) Nguyen TQN … Mizuguchi M (Congenital anomalies 2019) 3 56
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
- 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 56
ExternalLinks
Products for EFCAB7 Gene
- Browse OriGene Antibodies
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- OriGene qPCR primer pairs for EFCAB7
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- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Invitrogen Antibodies for EFCAB7 (AFLGC-EFCAB7)
- antibodies-online: Show 9 available EFCAB7 Antibodies ranked by validation data
- antibodies-online: Search results for available EFCAB7 related products ranked by validation data
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- Horizon Cell Lines for EFCAB7
- genomics-online: cdna clones - Search for available EFCAB7 CDNA products
- Overview of 93 available EFCAB7 gene related products
- orf clones - Search for available EFCAB7 ORF products
- Overview of 93 available EFCAB7 gene related products
- genomics-online: gRNA clones - Search for available EFCAB7 gRNA products
- Overview of 93 available EFCAB7 gene related products
- genomics-online: primer clones - Search for available EFCAB7 Primer products
- Overview of 93 available EFCAB7 gene related products
- genomics-online: shRNA clones - Search for available EFCAB7 shRNA products
- Overview of 93 available EFCAB7 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EFCAB7
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- Biorbyt antibodies for EFCAB7
Sources for EFCAB7 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
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- (30) CGAP SAGE
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- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
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- (46) Atlas
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- (48) H-invDB
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- (65) Qiagen
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- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
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