Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

PMID:12181424

Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.

Human alpha2delta-4 associates with CaV1.2/beta3, enhances calcium influx and lacks detectable gabapentin binding in the reported assay.

PMID:17033974

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

A homozygous truncating CACNA2D4 variant was identified in two siblings with slowly progressive cone dystrophy.

PMID:28262416

The Auxiliary Calcium Channel Subunit α2δ4 Is Required for Axonal Elaboration, Synaptic Transmission, and Wiring of Rod Photoreceptors.

Mouse alpha2delta-4 loss reduces native photoreceptor calcium-channel function and rod-to-bipolar signaling while preserving photoreceptor photocurrents. Cellular ELFN1 coassociation supports a synaptic complex, but purified ectodomain pull-down did not establish binary binding.

PMID:29875267

α(2)δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses.

An independent mouse knockout reduces functional presynaptic CaV1.4 channels and disrupts rod synapses and cone postsynaptic triads despite relatively preserved cone ribbons. Residual channel activity argues against an absolute requirement for forward trafficking.