Property Summary

NCBI Gene PubMed Count 14
Grant Count 39
R01 Count 18
Funding $10,660,734.03
PubMed Score 36.88
PubTator Score 15.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 2.120 0.000
medulloblastoma, large-cell 1.400 0.000

Gene RIF (6)

PMID Text
23714322 we found a homozygous compound mutation in the CABP4 gene in 3 patients with congenital stationary night blindess 2.
22936811 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).
20801516 Observational study of genetic testing. (HuGE Navigator)
20157620 This report significantly expands on the phenotype associated with calcium binding protein 4 mutations.
19074807 A novel homozygous nonsense mutation in CABP4 in two siblings resulted in a phenotype with severely reduced cone function and only negligibly reduced rod function on electroretinography and psychophysical testing.
16960802 it is reported for the first time that mutations in CABP4 lead to autosomal recessive congenital stationary night blindness

AA Sequence

MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSS      1 - 70
NNPPSTGEGPAGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEE     71 - 140
FDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRE    141 - 210
LRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH         211 - 275
//

Text Mined References (14)

PMID Year Title
23714322 2013 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
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).
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20157620 2010 A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.
19338761 2009 Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8.
19074807 2009 A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
16960802 2006 Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15452577 2004 Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.
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