CABP4 (calcium binding protein 4)

2014-11-01  

Identity

HGNC
CABP4
LOCATION
11q13.2
LOCUSID
57010
ALIAS
CRSD,CSNB2B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57010
MIM: 608965
HGNC: 1386
Ensembl: ENSG00000175544

Variants:

dbSNP: 57010
ClinVar: 57010
TCGA: ENSG00000175544
COSMIC: CABP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175544ENST00000325656P57796
ENSG00000175544ENST00000438189P57796
ENSG00000175544ENST00000438189A0A024R5K4
ENSG00000175544ENST00000545777F5H3E8

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
295258732018Retinal findings in a patient of French ancestry with CABP4-related retinal disease.4
295258732018Retinal findings in a patient of French ancestry with CABP4-related retinal disease.4
274285142017Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.1
286354252017Multimodal imaging in CABP4-related retinopathy.6
274285142017Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.1
286354252017Multimodal imaging in CABP4-related retinopathy.6
280025602016Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.15
280025602016Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.15
237143222013Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.53
237143222013Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.53
229368112012Complex 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
229368112012Complex 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
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.12
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.12
201576202010A 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)