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: 57010
MIM: 608965
HGNC: 1386
Ensembl: ENSG00000175544
Variants:
dbSNP: 57010
ClinVar: 57010
TCGA: ENSG00000175544
COSMIC: CABP4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000175544 | ENST00000325656 | P57796 |
| ENSG00000175544 | ENST00000438189 | P57796 |
| ENSG00000175544 | ENST00000438189 | A0A024R5K4 |
| ENSG00000175544 | ENST00000545777 | F5H3E8 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29525873 | 2018 | Retinal findings in a patient of French ancestry with CABP4-related retinal disease. | 4 |
| 29525873 | 2018 | Retinal findings in a patient of French ancestry with CABP4-related retinal disease. | 4 |
| 27428514 | 2017 | Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. | 1 |
| 28635425 | 2017 | Multimodal imaging in CABP4-related retinopathy. | 6 |
| 27428514 | 2017 | Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. | 1 |
| 28635425 | 2017 | Multimodal imaging in CABP4-related retinopathy. | 6 |
| 28002560 | 2016 | Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. | 15 |
| 28002560 | 2016 | Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. | 15 |
| 23714322 | 2013 | Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. | 53 |
| 23714322 | 2013 | Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. | 53 |
| 22936811 | 2012 | Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). | 29 |
| 22936811 | 2012 | Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). | 29 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 20157620 | 2010 | A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. | 20 |
Citation
Dessen P
CABP4 (calcium binding protein 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61349/cabp4-(calcium-binding-protein-4)
