EFCAB7 (EF-hand calcium binding domain 7)

2014-11-01  

Identity

HGNC
LOCATION
1p31.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 84455
MIM: 617632
HGNC: 29379
Ensembl: ENSG00000203965

Variants:

dbSNP: 84455
ClinVar: 84455
TCGA: ENSG00000203965
COSMIC: EFCAB7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203965ENST00000371088A8K855

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'on' stateREACTOMER-HSA-5632684
Activation of SMOREACTOMER-HSA-5635838

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
298456602019Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.1
298456602019Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins.1
267485862016Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.5
267485862016Truncation 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/gene-fusions/js/lib/tumors-explorer/