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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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Hedgehog | ||
2 | Hedgehog signaling pathway (KEGG) | ||
3 | Signaling by GPCR |
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 | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EFCAB7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EFCAB7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EFCAB7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Efcab7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Efcab7 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EFCAB7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | EFCAB7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EFCAB7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | efcab7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | efcab7 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | T02G5.3 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ellis-van creveld syndrome |
|
|
basal cell carcinoma, infundibulocystic |
|
|
weyers acrofacial dysostosis |
|
|
otopalatodigital syndrome, type ii |
|
|
syndactyly, type iv |
|
|