ENSG00000175544


Homo sapiens

Features
Gene ID: ENSG00000175544
  
Biological name :CABP4
  
Synonyms : CABP4 / calcium binding protein 4 / P57796
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.2
Gene start: 67452406
Gene end: 67460313
  
Corresponding Affymetrix probe sets: 1552890_a_at (Human Genome U133 Plus 2.0 Array)   1554201_at (Human Genome U133 Plus 2.0 Array)   1554202_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000439145
Ensembl peptide - ENSP00000324960
Ensembl peptide - ENSP00000401555
NCBI entrez gene - 57010     See in Manteia.
OMIM - 608965
RefSeq - XM_017018025
RefSeq - NM_001300895
RefSeq - NM_001300896
RefSeq - NM_145200
RefSeq - XM_011545181
RefSeq - XM_011545182
RefSeq - XM_011545183
RefSeq Peptide - NP_660201
RefSeq Peptide - NP_001287824
RefSeq Peptide - NP_001287825
swissprot - F5H3E8
swissprot - P57796
swissprot - A0A024R5K4
Ensembl - ENSG00000175544
  
Related genetic diseases (OMIM): 610427 - Cone-rod synaptic disorder, congenital nonprogressive, 610427
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
 cabp4ENSDARG00000008866Danio rerio
 si:cabz01076231.1ENSDARG00000105631Danio rerio
 Cabp4ENSMUSG00000024842Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CABP2 / Q9NPB3 / calcium binding protein 2ENSG0000016779144
CABP1 / Q9NZU7 / calcium binding protein 1ENSG0000015778240
CABP5 / Q9NP86 / calcium binding protein 5ENSG0000010550735
CALML3 / P27482 / calmodulin like 3ENSG0000017836324
CALM2 / P0DP24 / calmodulin 2ENSG0000014393323
CALM1 / P0DP23 / calmodulin 1ENSG0000019866823
CALM3 / P0DP25 / calmodulin 3ENSG0000016001423
CALML5 / Q9NZT1 / calmodulin like 5ENSG0000017837221
TNNC2 / P02585 / troponin C2, fast skeletal typeENSG0000010147021
TNNC1 / P63316 / troponin C1, slow skeletal and cardiac typeENSG0000011485419
CALML6 / Q8TD86 / calmodulin like 6ENSG0000016988519
CALML4 / Q96GE6 / calmodulin like 4ENSG0000012900717


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR033014  Calcium-binding protein 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007601 visual perception IMP
 biological_processGO:0007602 phototransduction IEA
 biological_processGO:0008594 photoreceptor cell morphogenesis IEA
 biological_processGO:0046549 retinal cone cell development IEA
 biological_processGO:0060040 retinal bipolar neuron differentiation IEA
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005576 extracellular region NAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0043195 terminal bouton TAS
 cellular_componentGO:0045202 synapse TAS
 molecular_functionGO:0005246 calcium channel regulator activity IEA
 molecular_functionGO:0005509 calcium ion binding TAS
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


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: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:0007642 Congenital stationary night blindness 
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 HP:0007663 Decreased central vision 
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 HP:0007766 Hypoplastic optic disks 
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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
No match






 

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