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
  • RCD4 3

External Ids for CACNA2D4 Gene

Previous GeneCards Identifiers for CACNA2D4 Gene

  • GC12M001787
  • GC12M001773
  • GC12M001901

Summaries for CACNA2D4 Gene

Entrez Gene Summary 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 Oxytocin signaling pathway and CCR5 Pathway in Macrophages. 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

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 for CACNA2D4 Gene

Promoters and enhancers for CACNA2D4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J001917 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +2.2 2163 2.6 NRF1 ZIC2 CTBP1 NCOR1 NFIC GABPA SPI1 ZFHX2 ZNF644 TAL1 CACNA2D4 ENSG00000256706 LRTM2
GH12J001810 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 520.3 +109.0 108950 4.2 POLR2G USF1 NCOR1 KDM6A TCF7 TOE1 CTBP1 SKI JUN TEAD1 CACNA2D4 LOC105369601 lnc-DCP1B-4 ENSG00000256706
GH12J001920 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 500.7 -0.8 -836 1.8 CTCF SPI1 ZFHX2 EZH2 POLR2A ZBTB33 MAX CACNA2D4 LRTM2 ENSG00000256706 LINC00940
GH12J001795 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.7 +124.1 124142 2.7 CTCF ZSCAN5C TCF12 POLR2G SP1 ZFX ZIC2 POLR2A ZNF423 TARDBP lnc-DCP1B-5 CACNA2D4 piR-30590
GH12J001658 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 +259.6 259579 5.3 HNRNPK CTCF TCF12 POLR2G BCLAF1 ZNF10 ZIC2 REST POLR2A ZBTB10 MIR3649 RAD52 ADIPOR2 DCP1B CACNA2D4 ENSG00000256706 LRTM2 CACNA1C RF00017-1068 lnc-FBXL14-2
- 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 UCSC Golden Path with GeneCards custom track

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
chr12:1,791,957-1,920,865
(GRCh38/hg38)
Size:
128,909 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:
CACNA2D4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA2D4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.
    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.
    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};

    Alternative splice isoforms for CACNA2D4 Gene

neXtProt entry 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
  • Modification sites at PhosphoSitePlus

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

Q7Z3S7

UniProtKB/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.
genes like me logo Genes that share domains with CACNA2D4: view

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

Gene Ontology (GO) - Molecular Function for CACNA2D4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IDA,IBA 12181424
GO:0005262 calcium channel activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CACNA2D4: view
genes like me logo Genes that share phenotypes with CACNA2D4: view

Human Phenotype Ontology for CACNA2D4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CACNA2D4 Gene

miRTarBase miRNAs that target CACNA2D4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA2D4 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CACNA2D4 Gene

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 --
genes like me logo Genes that share ontologies with CACNA2D4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNA2D4 Gene

Pathways & Interactions for CACNA2D4 Gene

PathCards logo

SuperPathways for CACNA2D4 Gene

SuperPathway Contained pathways
1 DREAM Repression and Dynorphin Expression
.44
.44
.37
.36
.31
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
.39
3 Activation of cAMP-Dependent PKA
.77
.77
.56
4 CCR5 Pathway in Macrophages
.52
.52
.33
5 Sweet Taste Signaling
.72
.72
.46
genes like me logo Genes that share pathways with CACNA2D4: view

Pathways by source for CACNA2D4 Gene

1 BioSystems pathway for CACNA2D4 Gene
1 PharmGKB pathway 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

Gene Ontology (GO) - Biological Process for CACNA2D4 Gene

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 --
genes like me logo Genes that share ontologies with CACNA2D4: view

No data available for SIGNOR curated interactions for CACNA2D4 Gene

Drugs & Compounds for CACNA2D4 Gene

(5) Drugs for CACNA2D4 Gene - From: DrugBank and HMDB

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
Spironolactone Approved Pharma Antagonist, Target, inhibitor Mineralocorticoid receptor antagonist 212
Ergocalciferol Approved Nutra Target, inducer 1534
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with CACNA2D4: view

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA2D4

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA2D4 Gene

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 normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNA2D4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA2D4 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for CACNA2D4 Gene

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



Protein tissue co-expression partners for CACNA2D4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNA2D4

SOURCE GeneReport for Unigene cluster for CACNA2D4 Gene:

Hs.13768

mRNA 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

  • Blood(4.3)
  • Eye(4.3)

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
genes like me logo Genes that share expression patterns with CACNA2D4: view

Orthologs for CACNA2D4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA2D4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA2D4 31 30
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA2D4 30
  • 87.39 (n)
cow
(Bos Taurus)
Mammalia CACNA2D4 31 30
  • 85.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna2d4 30
  • 83.23 (n)
mouse
(Mus musculus)
Mammalia Cacna2d4 17 31 30
  • 82.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA2D4 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA2D4 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA2D4 31 30
  • 77.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 84 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna2d4 30
  • 74.85 (n)
zebrafish
(Danio rerio)
Actinopterygii cacna2d4a 31 30
  • 64.29 (n)
OneToMany
cacna2d4b 31
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009598 30
  • 48.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4587 31 30
  • 47.25 (n)
ManyToMany
stj 31
  • 31 (a)
ManyToMany
CG42817 31
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-36 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
ManyToMany
-- 31
  • 23 (a)
ManyToMany
Species where no ortholog for CACNA2D4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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
genes like me logo Genes that share paralogs with CACNA2D4: view

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: 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: not provided 1,913,030(-) G/A MISSENSE_VARIANT
723842 Likely Benign: not provided 1,918,276(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CACNA2D4 Gene

Structural Variations from Database of Genomic Variants (DGV) for CACNA2D4 Gene

Variant ID Type Subtype PubMed ID
dgv1338n100 CNV loss 25217958
dgv175n27 CNV loss 19166990
dgv2273n54 CNV loss 21841781
dgv243e214 CNV loss 21293372
esv1036258 CNV deletion 17803354
esv2664626 CNV deletion 23128226
esv2669081 CNV deletion 23128226
esv2678723 CNV deletion 23128226
esv2741800 CNV deletion 23290073
esv2745399 CNV deletion 23290073
esv2745400 CNV deletion 23290073
esv2745401 CNV deletion 23290073
esv2745402 CNV deletion 23290073
esv2745403 CNV deletion 23290073
esv2761720 CNV loss 21179565
esv3444193 CNV duplication 20981092
esv3628294 CNV loss 21293372
esv3628297 CNV loss 21293372
esv3953 CNV loss 18987735
esv994355 CNV deletion 20482838
nsv1040370 CNV gain 25217958
nsv1043329 CNV gain 25217958
nsv1046388 CNV gain 25217958
nsv470259 CNV loss 18288195
nsv516230 CNV loss 19592680
nsv516798 CNV loss 19592680
nsv518013 CNV loss 19592680
nsv518786 CNV gain 19592680
nsv523186 CNV loss 19592680
nsv524974 CNV loss 19592680
nsv53217 CNV deletion 16902084
nsv556996 CNV gain 21841781
nsv556999 CNV loss 21841781
nsv557000 CNV loss 21841781
nsv832305 CNV gain 17160897
nsv832306 CNV loss 17160897

Variation tolerance for CACNA2D4 Gene

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

Human Gene Mutation Database (HGMD)
CACNA2D4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA2D4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA2D4 Gene

Disorders for CACNA2D4 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CACNA2D4 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal cone dystrophy 4
  • rcd4
cone-rod dystrophy 2
  • cord2
cone dystrophy
  • cone dystrophy 3
cone dystrophy 4
  • cod4
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with CACNA2D4: view

No data available for Genatlas for CACNA2D4 Gene

Publications for CACNA2D4 Gene

  1. 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 54
  2. 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 54
  3. 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 54
  4. Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes. (PMID: 28726569) Chiang JP … Hirsch Y (Ophthalmic genetics 2018) 3 54
  5. Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. (PMID: 26560832) Ba-Abbad R … Holder GE (Ophthalmology 2016) 3 54

Products for CACNA2D4 Gene

  • Biorbyt antibodies for CACNA2D4

Sources for CACNA2D4 Gene