ENSG00000151062


Homo sapiens

Features
Gene ID: ENSG00000151062
  
Biological name :CACNA2D4
  
Synonyms : CACNA2D4 / calcium voltage-gated channel auxiliary subunit alpha2delta 4 / Q7Z3S7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p13.33
Gene start: 1791957
Gene end: 1918836
  
Corresponding Affymetrix probe sets: 1552690_a_at (Human Genome U133 Plus 2.0 Array)   228083_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467697
Ensembl peptide - ENSP00000468080
Ensembl peptide - ENSP00000468530
Ensembl peptide - ENSP00000468167
Ensembl peptide - ENSP00000372169
Ensembl peptide - ENSP00000403371
Ensembl peptide - ENSP00000440231
Ensembl peptide - ENSP00000442329
Ensembl peptide - ENSP00000443038
Ensembl peptide - ENSP00000446341
Ensembl peptide - ENSP00000464949
Ensembl peptide - ENSP00000465060
Ensembl peptide - ENSP00000465372
Ensembl peptide - ENSP00000467333
NCBI entrez gene - 93589     See in Manteia.
OMIM - 608171
RefSeq - XM_011521041
RefSeq - NM_172364
RefSeq Peptide - NP_758952
swissprot - K7EJY1
swissprot - K7ER25
swissprot - K7ER98
swissprot - E7EUE0
swissprot - Q7Z3S7
swissprot - X6RLU5
swissprot - X6RLY7
swissprot - K7EIY9
swissprot - B4DVU4
Ensembl - ENSG00000151062
  
Related genetic diseases (OMIM): 610478 - Retinal cone dystrophy 4, 610478
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cacna2d4bENSDARG00000023886Danio rerio
 Cacna2d4ENSMUSG00000041460Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8IZS8 / CACNA2D3 / calcium voltage-gated channel auxiliary subunit alpha2delta 3ENSG0000015744557
Q9NY47 / CACNA2D2 / calcium voltage-gated channel auxiliary subunit alpha2delta 2ENSG0000000740228
P54289 / CACNA2D1 / calcium voltage-gated channel auxiliary subunit alpha2delta 1ENSG0000015395626
CACHD1 / cache domain containing 1ENSG0000015896618


Protein motifs (from Interpro)
Interpro ID Name
 IPR002035  von Willebrand factor, type A
 IPR013608  VWA N-terminal
 IPR013680  Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0050908 detection of light stimulus involved in visual perception IMP
 biological_processGO:0061337 cardiac conduction TAS
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005891 voltage-gated calcium channel complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IDA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Phase 0 - rapid depolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0001133 Constricted visual fields 
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 HP:0007663 Decreased central vision 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0007766 Hypoplastic optic disks 
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 HP:0007814 Salt and pepper retinopathy, early 
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 HP:0007984 Electroretinogram shows a reduced b-wave in most cases 
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 HP:0008002 Macular pigmentary changes 
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000167535 CACNB3 / P54284 / calcium voltage-gated channel auxiliary subunit beta 3  / complex
 ENSG00000151067 Q13936 / CACNA1C / calcium voltage-gated channel subunit alpha1 C  / complex
 ENSG00000067191 CACNB1 / Q02641 / calcium voltage-gated channel auxiliary subunit beta 1  / complex
 ENSG00000102001 O60840 / CACNA1F / calcium voltage-gated channel subunit alpha1 F  / complex
 ENSG00000165995 CACNB2 / Q08289 / calcium voltage-gated channel auxiliary subunit beta 2  / complex
 ENSG00000157388 Q01668 / CACNA1D / calcium voltage-gated channel subunit alpha1 D  / complex
 ENSG00000151062 Q7Z3S7 / CACNA2D4 / calcium voltage-gated channel auxiliary subunit alpha2delta 4  / complex
 ENSG00000081248 Q13698 / CACNA1S / calcium voltage-gated channel subunit alpha1 S  / complex
 ENSG00000182389 CACNB4 / O00305 / calcium voltage-gated channel auxiliary subunit beta 4  / complex






 

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