CACNA2D4

Last updated
CACNA2D4
Identifiers
Aliases CACNA2D4 , RCD4, calcium voltage-gated channel auxiliary subunit alpha2delta 4
External IDs MGI: 2442632 HomoloGene: 26544 GeneCards: CACNA2D4
Gene location (Human)
Ideogram human chromosome 12.svg
Chr. Chromosome 12 (human) [1]
Human chromosome 12 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 12p13.33Start1,791,957 bp [1]
End1,918,836 bp [1]
Orthologs
SpeciesHumanMouse
Entrez

93589

319734

Ensembl

ENSG00000151062

ENSMUSG00000041460

UniProt

Q7Z3S7

Q5RJF7

RefSeq (mRNA)

NM_001005737
NM_001005766
NM_172364

NM_001033382
NM_001347427

RefSeq (protein)

NP_758952

NP_001028554
NP_001334356

Location (UCSC) Chr 12: 1.79 – 1.92 Mb Chr 6: 119.24 – 119.35 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Calcium channel, voltage-dependent, alpha 2/delta subunit 4 is a protein that in humans is encoded by the CACNA2D4 gene. [5]

Protein biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

Contents

Function

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [5]

Alternative splicing process of gene expression

Alternative splicing, or differential splicing, is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene. Consequently, the proteins translated from alternatively spliced mRNAs will contain differences in their amino acid sequence and, often, in their biological functions. Notably, alternative splicing allows the human genome to direct the synthesis of many more proteins than would be expected from its 20,000 protein-coding genes.

Related Research Articles

Ca<sub>v</sub>1.2 protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, L type, alpha 1C subunit is a protein that in humans is encoded by the CACNA1C gene. Cav1.2 is a subunit of L-type voltage-dependent calcium channel.

The R-type calcium channel is a type of voltage-dependent calcium channel. Like the others of this class, the α1 subunit forms the pore through which calcium enters the cell and determines most of the channel's properties. This α1 subunit is also known as the calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E) or Cav2.3 which in humans is encoded by the CACNA1E gene. They are strongly expressed in cortex, hippocampus, striatum, amygdala and interpeduncular nucleus.

Ca<sub>v</sub>2.1 protein-coding gene in the species Homo sapiens

The Cav2.1 P/Q voltage-dependent calcium channel is encoded by the CACNA1A gene.

Ca<sub>v</sub>1.4 protein-coding gene in the species Homo sapiens

Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.

Ca<sub>v</sub>1.1 protein-coding gene in the species Homo sapiens

Cav1.1 also known as the calcium channel, voltage-dependent, L type, alpha 1S subunit, (CACNA1S), is a protein which in humans is encoded by the CACNA1S gene. It is also known as CACNL1A3 and the dihydropyridine receptor.

CACNB2 protein-coding gene in the species Homo sapiens

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.

CACNB4 protein-coding gene in the species Homo sapiens

Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene.

CACNB1 protein-coding gene in the species Homo sapiens

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.

CACNG2 protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, gamma subunit 2, also known as CACNG2 or stargazin is a protein that in humans is encoded by the CACNG2 gene.

Ca<sub>v</sub>1.3 protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, L type, alpha 1D subunit is a protein that in humans is encoded by the CACNA1D gene. Cav1.3 channels belong to the Cav1 family, which form L-type calcium currents and are sensitive to selective inhibition by dihydropyridines (DHP).

CACNB3 protein-coding gene in the species Homo sapiens

Voltage-dependent L-type calcium channel subunit beta-3 is a protein that in humans is encoded by the CACNB3 gene.

CACNA2D1 protein-coding gene in the species Homo sapiens

Voltage-dependent calcium channel subunit alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene.

CACNA1H protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, T type, alpha 1H subunit, also known as CACNA1H, is a protein which in humans is encoded by the CACNA1H gene.

CACNG4 protein-coding gene in the species Homo sapiens

Voltage-dependent calcium channel gamma-4 subunit is a protein that in humans is encoded by the CACNG4 gene.

CACNG1 protein-coding gene in the species Homo sapiens

Voltage-dependent calcium channel gamma-1 subunit is a protein that in humans is encoded by the CACNG1 gene.

CACNA2D2 protein-coding gene in the species Homo sapiens

Voltage-dependent calcium channel subunit alpha2delta-2 is a protein that in humans is encoded by the CACNA2D2 gene.

CACNA1I protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, T type, alpha 1I subunit, also known as CACNA1I or Cav3.3 is a protein which in humans is encoded by the CACNA1I gene.

CACNA1B protein-coding gene in the species Homo sapiens

The voltage-dependent N-type calcium channel subunit alpha-1B is a protein that in humans is encoded by the CACNA1B gene.

CACNA1G protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, T type, alpha 1G subunit, also known as CACNA1G or Cav3.1 is a protein which in humans is encoded by the CACNA1G gene.

CACNA2D3 protein-coding gene in the species Homo sapiens

Calcium channel, voltage-dependent, alpha 2/delta subunit 3 is a protein that in humans is encoded by the CACNA2D3 gene on chromosome 3 .

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000151062 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041460 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: Calcium channel, voltage-dependent, alpha 2/delta subunit 4".

Further reading

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