Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | CACNA2D1 | contributors: mct - updated : 26-09-2024 |
HGNC name | calcium channel, voltage-dependent, alpha 2/delta subunit 1 |
HGNC id | 1399 |
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Corresponding disease |
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Location | 7q21.11 Physical location : 81.579.417 - 82.073.031 | ||||
Synonym name | |||||
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Synonym symbol(s) | CACNL2A, CACNA2, CCHL2A, MHS3, WUGSC:H_DJ0560O14.1, H_DJ0560O14.1, DEE110, LINC01112, lncRNA-N3, FLJ30478 |
DNA |
TYPE | functioning gene |
STRUCTURE | 497.51 kb 39 Exon(s) |
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10 Kb 5' upstream gene genomic sequence study |
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regulatory sequence | Binding site transcription factor |
text structure | ![]() |
MAPPING | cloned | Y | linked | status | confirmed |
Map | cen - D7S2443 - D7S660 - CACNA2D1 - D7S2540 - D7S2485 - qter |
Authors | UCSC (2009) |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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conjugated | GlycoP |
mono polymer | heteromer , dimer |
isoforms | Precursor | proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked |
HOMOLOGY |
interspecies | homolog to rattus Cacna2d1 (96.3 pc) |
Homologene |
FAMILY |
CATEGORY | transport channel |
SUBCELLULAR LOCALIZATION
| plasma membrane |
| intracellular |
intracellular,cytoplasm,organelle,endoplasmic reticulum | |
text | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
text | Ca2+ transport |
PATHWAY |
metabolism |
signaling |
a component | |
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INTERACTION |
DNA |
RNA |
small molecule | metal binding, |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | MHS3 , DEE110 |
Susceptibility | to glaucoma |
Variant & Polymorphism SNP | ![]() |
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Candidate gene
Marker
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ANIMAL & CELL MODELS |