Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84455
MIM: 617632
HGNC: 29379
Ensembl: ENSG00000203965
Variants:
dbSNP: 84455
ClinVar: 84455
TCGA: ENSG00000203965
COSMIC: EFCAB7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000203965 | ENST00000371088 | A8K855 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Signaling by Hedgehog | REACTOME | R-HSA-5358351 |
| Hedgehog 'on' state | REACTOME | R-HSA-5632684 |
| Activation of SMO | REACTOME | R-HSA-5635838 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29845660 | 2019 | Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins. | 1 |
| 29845660 | 2019 | Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins. | 1 |
| 26748586 | 2016 | Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. | 5 |
| 26748586 | 2016 | Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. | 5 |
Citation
Dessen P
EFCAB7 (EF-hand calcium binding domain 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62744/efcab7-(ef-hand-calcium-binding-domain-7)
