Description: Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. RefSeq Summary (NM_001128840): Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. Transcript (Including UTRs) Position: hg19 chr3:53,830,149-53,846,492 Size: 16,344 Total Exon Count: 9 Strand: +
Bone Density Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903296]
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
Cholesterol, HDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
Hip Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903296]
The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
M76558 - Human neuronal DHP-sensitive, voltage-dependent, calcium channel alpha-1D subunit mRNA, complete cds. M83566 - Human neuroendocrine/beta-cell-type calcium channel alpha-1 subunit mRNA, complete cds. EU363339 - Homo sapiens calcium channel voltage-dependent L type alpha 1D subunit (CACNA1D) mRNA, complete cds. AB209171 - Homo sapiens mRNA for calcium channel, voltage-dependent, L type, alpha 1D subunit variant protein. A22940 - H.sapiens mRNA fragment (pCA3). AK294397 - Homo sapiens cDNA FLJ50754 complete cds, highly similar to Voltage-dependent L-type calcium channel subunit alpha-1D. JD330272 - Sequence 311296 from Patent EP1572962. JD526792 - Sequence 507816 from Patent EP1572962. JD372926 - Sequence 353950 from Patent EP1572962. JD210372 - Sequence 191396 from Patent EP1572962. JD178423 - Sequence 159447 from Patent EP1572962. JD124283 - Sequence 105307 from Patent EP1572962. JD120180 - Sequence 101204 from Patent EP1572962. JD108560 - Sequence 89584 from Patent EP1572962. JD095680 - Sequence 76704 from Patent EP1572962. JD059132 - Sequence 40156 from Patent EP1572962. JD538429 - Sequence 519453 from Patent EP1572962.