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GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CABP5
calcium binding protein 5
Chromosome 19 · 19q13.33
NCBI Gene: 56344Ensembl: ENSG00000105507.3HGNC: HGNC:13714UniProt: Q9NP86
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolcalcium channel regulator activityvisual perceptionmyopiarefractive errorMODYtype 1 diabetes mellitus
✦AI Summary

CABP5 is a calcium-binding protein primarily expressed in retinal bipolar cells that modulates calcium signaling in visual circuitry. 1 Its expression is restricted to rod and cone bipolar cells, where it appears during early post-mitotic development, preceding expression of other bipolar cell-type-specific markers. 2 At the molecular level, CABP5 belongs to a subfamily of neuronal calcium sensors structurally similar to calmodulin but with altered EF-hand motifs. 1 Single-cell transcriptomic analysis reveals that CABP5 is coexpressed with CaBP1 and CaBP2 in most bipolar cell types, with notably distinct expression in photoreceptors depending on species: mouse cones and human rods coexpress CaBP4 and CaBP5, while mouse rods and human cones express CaBP4 exclusively. 3 Transcriptional regulation of CABP5 involves paired-type homeodomain factors (Otx2, Crx) and POU-domain factor Brn2, which bind conserved promoter sequences to drive bipolar cell-specific expression. 4 While CABP5's precise functional mechanisms in bipolar cells remain incompletely characterized compared to other CaBP family members, its specialized retinal localization and developmental timing suggest critical roles in phototransduction and synaptic transmission within retinal circuits. 5

Sources cited
1
CABP5 expression is restricted to retinal rod and cone bipolar cells; describes structural features of CaBPs including altered EF-hand motifs
PMID: 10625670
2
CaBP5 is a bipolar cell-type-specific marker expressed after post-mitotic development
PMID: 22073130
3
Comprehensive characterization of CaBP5 coexpression patterns in bipolar cells and differential expression in photoreceptors across mouse and human retinas
PMID: 39260891
4
CABP5 promoter is regulated by paired-type homeodomain factors Otx2 and POU-domain factor Brn2 in bipolar cells
PMID: 18667607
5
CaBP5 is part of the CaBP family with roles in cell signaling; notes that some CaBP members are less well characterized than others
PMID: 39936944
6
CaBP5 serves as a bipolar cell marker in retinal development studies
PMID: 36409292
Disease Associationsⓘ20
myopiaOpen Targets
0.28Weak
refractive errorOpen Targets
0.28Weak
MODYOpen Targets
0.11Weak
type 1 diabetes mellitusOpen Targets
0.10Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.09Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.09Suggestive
amelogenesis imperfectaOpen Targets
0.08Suggestive
maturity-onset diabetes of the young type 2Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.07Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.07Suggestive
cleft palateOpen Targets
0.07Suggestive
tooth agenesisOpen Targets
0.07Suggestive
dentin dysplasia type IIOpen Targets
0.06Suggestive
amelogenesis imperfecta type 3BOpen Targets
0.06Suggestive
keratosis pilaris atrophicansOpen Targets
0.06Suggestive
amelogenesis imperfecta, type ijOpen Targets
0.06Suggestive
amelogenesis imperfecta, type 3AOpen Targets
0.06Suggestive
dentin dysplasia type IOpen Targets
0.06Suggestive
fused mandibular incisorsOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CABP1Shared pathway67%CABP2Shared pathway67%CABP4Shared pathway67%RRHShared pathway50%NYXShared pathway50%IMPG2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
50%
Liver
0%
Heart
0%
Brain
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
CABP5CABP1CABP2CABP4RRHNYXIMPG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NP86
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.35LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.62–1.35]
RankingsWhere CABP5 stands among ~20K protein-coding genes
  • #14,936of 20,598
    Most Researched17
  • #14,134of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedCABP5
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Structure-Function Diversity of Calcium-Binding Proteins (CaBPs): Key Roles in Cell Signalling and Disease.
PMID: 39936944
Cells · 2025
1.00
2
Characterization of Retinal Development in 13-Lined Ground Squirrels.
PMID: 36409292
Transl Vis Sci Technol · 2022
0.88
3
A core paired-type and POU homeodomain-containing transcription factor program drives retinal bipolar cell gene expression.
PMID: 18667607
J Neurosci · 2008
0.75
4
Ca2+ binding protein-1 inhibits Ca2+ currents and exocytosis in bovine chromaffin cells.
PMID: 17960496
J Biomed Sci · 2008
0.63
5
Comprehensive Characterization of a Subfamily of Ca
PMID: 39260891
eNeuro · 2024
0.50