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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... See more...
Aliases for CACNA2D4 Gene
Aliases for CACNA2D4 Gene
- Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4 2 3 5
- Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 4 2 3
- Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-4 3 4
- Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-4 3 4
- Voltage-Gated Calcium Channel Alpha(2)Delta-4 Subunit 3
- CACNA2D4 5
- RCD4 3
External Ids for CACNA2D4 Gene
- HGNC: 20202
- Entrez Gene: 93589
- Ensembl: ENSG00000151062
- OMIM: 608171
- UniProtKB: Q7Z3S7
Previous GeneCards Identifiers for CACNA2D4 Gene
- GC12M001787
- GC12M001773
- GC12M001901
Summaries for CACNA2D4 Gene
-
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for CACNA2D4 Gene
CACNA2D4 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4) is a Protein Coding gene. Diseases associated with CACNA2D4 include Retinal Cone Dystrophy 4 and Cone-Rod Dystrophy 2. Among its related pathways are Integrin Pathway and Phase 0 - rapid depolarisation. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACNA2D3.
UniProtKB/Swiss-Prot Summary for CACNA2D4 Gene
-
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.
Additional gene information for CACNA2D4 Gene
- HGNC(20202)
- Entrez Gene(93589)
- Ensembl(ENSG00000151062)
- OMIM(608171)
- UniProtKB(Q7Z3S7)
- Open Targets Platform(ENSG00000151062)
- Monarch Initiative
- Search for CACNA2D4 at DataMed
- Search for CACNA2D4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNA2D4 Gene
Genomics for CACNA2D4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CACNA2D4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CACNA2D4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNA2D4
- Top Transcription factor binding sites by QIAGEN in the CACNA2D4 gene promoter:
-
- E47
- FOXI1
- HFH-3
- MRF-2
- Nkx2-5
- NRSF form 2
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- Tal-1beta
Genomic Locations for CACNA2D4 Gene
Genomic Locations for CACNA2D4 Gene
- chr12:1,791,963-1,922,606
- (GRCh38/hg38)
- Size:
- 130,644 bases
- Orientation:
- Minus strand
- chr12:1,901,123-2,028,002
- (GRCh37/hg19)
- Size:
- 126,880 bases
- Orientation:
- Minus strand
Genomic View for CACNA2D4 Gene
Genes around CACNA2D4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.33 by HGNC
- 12p13.33 by Entrez Gene
- 12p13.33 by Ensembl
CACNA2D4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CACNA2D4 Gene
Proteins for CACNA2D4 Gene
-
Protein details for CACNA2D4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z3S7-CA2D4_HUMAN
- Recommended name:
- Voltage-dependent calcium channel subunit alpha-2/delta-4
- Protein Accession:
- Q7Z3S7
- Q7Z3S8
- Q86XZ5
- Q8IZS9
Protein attributes for CACNA2D4 Gene
- Size:
- 1137 amino acids
- Molecular mass:
- 127938 Da
- Quaternary structure:
-
- Dimer formed of alpha-2-2 and delta-2 chains; disulfide-linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio (Probable). Interacts with CACNA1C and CACNB3.
- SequenceCaution:
-
- Sequence=AAH48288.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAN06672.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug.
- [Isoform 2]: May be due to an intron retention.
- [Isoform 7]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for CACNA2D4 Gene
Post-translational modifications for CACNA2D4 Gene
- May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity).
-
Glycosylation at Asn201 and Asn664
- NX_Q7Z3S7 (NX_Q7Z3S7-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CACNA2D4 Gene
Antibody Products
- G Biosciences Immunotag™ CACNA2D4 Antibody
- Novus Biologicals Antibodies for CACNA2D4
- Invitrogen Antibodies for CACNA2D4 (AFLGC-Cacna2d4)
Protein Products
-
OriGene Purified Proteins for CACNA2D4
- Search Origene for MassSpec and Protein Over-expression Lysates for CACNA2D4
- Origene Custom Protein Services for CACNA2D4
- Novus Biologicals proteins for CACNA2D4
- antibodies-online: Show 8 available CACNA2D4 Proteins ranked by validation data
- Compare Top CACNA2D4 Proteins
-
Quality Products:
No data available for DME Specific Peptides for CACNA2D4 Gene
Domains & Families for CACNA2D4 Gene
Gene Families for CACNA2D4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for CACNA2D4 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CACNA2D4 Gene
- GenScript: Design optimal peptide antigens:
-
- CACNA2D4 protein (A7E243_HUMAN)
- cDNA FLJ50030, highly similar to Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4, transcript variant 3, mRNA (B4DVU4_HUMAN)
- Voltage-gated calcium channel subunit alpha-2/delta-4 (CA2D4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q7Z3S7UniProtKB/Swiss-Prot:
CA2D4_HUMAN :- The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.
- Belongs to the calcium channel subunit alpha-2/delta family.
- Domain:
-
- The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.
- Family:
-
- Belongs to the calcium channel subunit alpha-2/delta family.
Function for CACNA2D4 Gene
Molecular function for CACNA2D4 Gene
- UniProtKB/Swiss-Prot Function:
- The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.
Phenotypes From GWAS Catalog for CACNA2D4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005244 | voltage-gated ion channel activity | IEA | -- |
| GO:0005245 | voltage-gated calcium channel activity | IBA,IDA | 12181424 |
| GO:0005262 | calcium channel activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for CACNA2D4 Gene
- MGI mutant phenotypes for CACNA2D4:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CACNA2D4:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CACNA2D4 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for CACNA2D4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA2D4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA2D4
miRNA for CACNA2D4 Gene
- miRTarBase miRNAs that target CACNA2D4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNA2D4
- Browse OriGene Inhibitory RNA Products For CACNA2D4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA2D4
Clone Products
- Applied Biological Materials (abm): Clones for CACNA2D4 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for CACNA2D4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA2D4
Cell Line Products
-
Horizon Cell Lines for CACNA2D4
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CACNA2D4 Gene
Localization for CACNA2D4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CACNA2D4 Gene
- Membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005891 | voltage-gated calcium channel complex | IBA,IDA | 12181424 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNA2D4 Gene
Pathways & Interactions for CACNA2D4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
DREAM Repression and Dynorphin Expression
.44
nNOS Signaling in Skeletal Muscle
.37
|
Caspase Cascade
.36
Calpain Protease Regulates Cellular Mechanics
.31
|
| 2 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
|
Fc-EpsilonRI Pathway
.49
PDGF Pathway
.39
|
| 3 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
| 4 | CCR5 Pathway in Macrophages |
Androgen Signaling
.52
CCR5 Pathway in Macrophages
.52
|
Chemokine Signaling
.33
|
| 5 | Sweet Taste Signaling |
Melatonin Signaling
.72
Sweet Taste Signaling
.72
|
Cellular Effects of Sildenafil
.46
|
Pathways by source for CACNA2D4 Gene
1 BioSystems pathway for CACNA2D4 Gene
4 Reactome pathways for CACNA2D4 Gene
1 PharmGKB pathway for CACNA2D4 Gene
7 KEGG pathways for CACNA2D4 Gene
1 GeneGo (Thomson Reuters) pathway for CACNA2D4 Gene
- Transcription CREB pathway
37 Qiagen pathways for CACNA2D4 Gene
- Activation of cAMP-Dependent PKA
- all-trans-Retinoic Acid Signaling in Brain
- Androgen Signaling
- BMP Pathway
- Calpain Protease Regulates Cellular Mechanics
Interacting Proteins for CACNA2D4 Gene
GPS-Prot Interaction Network for CACNA2D4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
| GO:0050908 | detection of light stimulus involved in visual perception | IMP | 17033974 |
| GO:0061337 | cardiac conduction | TAS | -- |
No data available for SIGNOR curated interactions for CACNA2D4 Gene
Drugs & Compounds for CACNA2D4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Bioallethrin | Approved, Experimental | Pharma | Target, agonist | 0 | ||
| Butamben | Approved, Withdrawn | Pharma | Target, inhibitor | 0 | ||
| Enflurane | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor, activator | 2 | ||
| Spironolactone | Approved | Pharma | Antagonist, Target, inhibitor | Mineralocorticoid receptor antagonist | 222 | |
| Ergocalciferol | Approved | Nutra | Target, inducer | 415 |
Transcripts for CACNA2D4 Gene
mRNA/cDNA for CACNA2D4 Gene
- 3 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000382722 5285 nts (view in UCSC)
- ENST00000537784 2876 nts (view in UCSC)
- ENST00000280663 5936 nts (view in UCSC)
- ENST00000444595 4450 nts (view in UCSC)
- ENST00000545595 1615 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CACNA2D4 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for CACNA2D4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNA2D4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNA2D4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNA2D4
- Browse OriGene Inhibitory RNA Products For CACNA2D4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA2D4
Clone Products
- Applied Biological Materials (abm): Clones for CACNA2D4 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CACNA2D4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNA2D4
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 27a | · | 27b | · | 27c | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33a | · | 33b | · | 33c | ^ | 34a | · | 34b | · | 34c | ^ | 35a | · | 35b | · | 35c | · | 35d | ^ | 36 | ^ | 37a | · | 37b | · | 37c | ^ | 38a | · | 38b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
Relevant External Links for CACNA2D4 Gene
- GeneLoc Exon Structure for
- CACNA2D4
Expression for CACNA2D4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
-
Eye (Sensory Organs)
- Type1 Off Cone Bipolar Cells Inner Nuclear Layer
-
Neurons
- Type1 Off Cone Bipolar Cells Inner Nuclear Layer
- Bone (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CACNA2D4 Gene
This gene is overexpressed in Whole Blood (x6.1).
This gene is overexpressed in Retina (60.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNA2D4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNA2D4
SOURCE GeneReport for Unigene cluster for CACNA2D4 Gene:
Hs.13768mRNA Expression by UniProt/SwissProt for CACNA2D4 Gene:
Q7Z3S7-CA2D4_HUMAN
Tissue specificity:
Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the adrenal gland and in the basophils of the pituitary. Present at low level in some brain regions such as the cerebellum (at protein level).
Evidence on tissue expression from TISSUES for CACNA2D4 Gene
- Eye(4.5)
- Blood(4.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA2D4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- endocrine
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- lacrimal apparatus
- pituitary gland
Thorax:
- breast
Pelvis:
- ovary
- penis
- prostate
- testicle
- uterus
- vagina
- vulva
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CACNA2D4
Gene Expression Assay Products
Orthologs for CACNA2D4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CACNA2D4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CACNA2D4 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | CACNA2D4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cacna2d4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cacna2d4 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CACNA2D4 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CACNA2D4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CACNA2D4 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cacna2d4 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cacna2d4a 30 31 |
|
OneToMany | |
| cacna2d4b 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009598 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4587 30 31 |
|
ManyToMany | |
| stj 31 |
|
ManyToMany | |||
| CG42817 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | unc-36 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany |
- Species where no ortholog for CACNA2D4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for CACNA2D4 Gene
- ENSEMBL:
- Gene Tree for CACNA2D4 (if available)
- TreeFam:
- Gene Tree for CACNA2D4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CACNA2D4: view image
Paralogs for CACNA2D4 Gene
(3) SIMAP similar genes for CACNA2D4 Gene using alignment to 8 proteins:
- CA2D4_HUMAN
- A7E243_HUMAN
- B4DVU4_HUMAN
- E7EUE0_HUMAN
- K7EIY9_HUMAN
- K7EJY1_HUMAN
- K7ER25_HUMAN
- K7ER98_HUMAN
Variants for CACNA2D4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNA2D4 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 707895 | Likely Benign: Retinal cone dystrophy 4; not provided | 1,856,232(-) | G/A | INTRON_VARIANT | |
| 722264 | Likely Benign: not provided | 1,884,233(-) | C/T | INTRON_VARIANT | |
| 722609 | Likely Benign: not provided | 1,884,234(-) | G/A | INTRON_VARIANT | |
| 723403 | Likely Benign: Retinal cone dystrophy 4; not provided | 1,913,030(-) | G/A | MISSENSE_VARIANT | |
| 723842 | Likely Benign: not provided | 1,918,276(-) | C/T | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.23;
70.00% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CACNA2D4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA2D4 Gene
Disorders for CACNA2D4 Gene
(15) MalaCards diseases for CACNA2D4 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinal cone dystrophy 4 |
|
|
| cone-rod dystrophy 2 |
|
|
| cone dystrophy |
|
|
| cone dystrophy 4 |
|
|
| congenital stationary night blindness |
|
|
Search CACNA2D4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CA2D4_HUMAN- Retinal cone dystrophy 4 (RCD4) [MIM:610478]: Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. {ECO:0000269 PubMed:17033974}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CACNA2D4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CACNA2D4 Gene
Publications for CACNA2D4 Gene
- Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit. (PMID: 12181424) Qin N … D'Andrea MR (Molecular pharmacology 2002) 2 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. (PMID: 17033974) Wycisk KA … Berger W (American journal of human genetics 2006) 3 4
- A New Zebrafish Model for CACNA2D4-Dysfunction. (PMID: 31834350) Schlegel DK … Neuhauss SCF (Investigative ophthalmology & visual science 2019) 3
- Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes. (PMID: 28726569) Chiang JP … Hirsch Y (Ophthalmic genetics 2018) 3
ExternalLinks
Products for CACNA2D4 Gene
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Sources for CACNA2D4 Gene
- (1) GeneCards
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