CABP4 (calcium binding protein 4)

2014-11-01 Affiliation

Identity

HGNC

CABP4

LOCATION

11q13.2

LOCUSID

57010

ALIAS

CRSD,CSNB2B

FUSION GENES

Show Gene Fusions

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)

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 ID	Year	Title	Citations
16960802	2006	Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.	70
19074807	2009	A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.	34
23714322	2013	Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.	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).	22
20157620	2010	A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.	17
20801516	2011	Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.	11
28002560	2016	Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.	4
28635425	2017	Multimodal imaging in CABP4-related retinopathy.	2
29525873	2018	Retinal findings in a patient of French ancestry with CABP4-related retinal disease.	1
27428514	2017	Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.	0

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)