Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57010
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium binding protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CABP4
Synonyms (NCBI Gene) Gene synonyms aliases
CRSD, CSNB2B
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRSD
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isofo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121917828 C>T Pathogenic Coding sequence variant, missense variant
rs150115958 C>A,T Likely-pathogenic, pathogenic Stop gained, genic downstream transcript variant, synonymous variant, coding sequence variant, downstream transcript variant
rs531851447 C>T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, stop gained
rs754194692 C>A,G,T Conflicting-interpretations-of-pathogenicity Intron variant, synonymous variant, coding sequence variant, missense variant
rs761991624 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT708997 hsa-miR-1913 HITS-CLIP 19536157
MIRT708996 hsa-miR-324-3p HITS-CLIP 19536157
MIRT708995 hsa-miR-18a-3p HITS-CLIP 19536157
MIRT708994 hsa-miR-6749-3p HITS-CLIP 19536157
MIRT708993 hsa-miR-4727-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005246 Function Calcium channel regulator activity IEA
GO:0005509 Function Calcium ion binding NAS 16960802
GO:0005509 Function Calcium ion binding TAS 15452577
GO:0005576 Component Extracellular region NAS 16960802
GO:0005829 Component Cytosol IDA 19338761
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608965 1386 ENSG00000175544
Protein
UniProt ID P57796
Protein name Calcium-binding protein 4 (CaBP4)
Protein function Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00036 EF-hand_1 133 161 EF hand Domain
PF13499 EF-hand_7 209 273 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in retina and in the inner hair cells (IHC) of the cochlea.
Sequence
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGE
QTGPEAPGSSNNPPSTGEGPAGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVF
GKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMR
MGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEMLREVDLNGDGTVDFDEFVMMLS
RH
Sequence length 275
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Achromatopsia Achromatopsia rs121918344, rs267606739, rs397515360, rs121918537, rs121918538, rs786200908, rs796051871, rs121918539, rs387906401, rs267606936, rs786200909, rs786200910, rs267606934, rs267606937, rs267606935
View all (196 more)
30718709
Cone dystrophy Cone Dystrophy rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709
View all (28 more)
Cone-rod dystrophy Cone-Rod Dystrophies rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209
View all (207 more)
30718709
Congenital stationary night blindness Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911
View all (100 more)
16960802
Associations from Text Mining
Disease Name Relationship Type References
Amaurosis congenita of Leber type 1 Associate 40294858
Cone Rod Dystrophies Associate 20554613
Leber Congenital Amaurosis Associate 20157620
Night Blindness Associate 16960802
Night blindness congenital stationary Associate 16960802, 19578023, 20157620
Photophobia Stimulate 40294858
Retinal Dystrophies Associate 28751151
Uveal melanoma Associate 36311731