ENSG00000167791


Homo sapiens

Features
Gene ID: ENSG00000167791
  
Biological name :CABP2
  
Synonyms : CABP2 / calcium binding protein 2 / Q9NPB3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q13.2
Gene start: 67518912
Gene end: 67524517
  
Corresponding Affymetrix probe sets: 207745_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000312037
Ensembl peptide - ENSP00000490746
Ensembl peptide - ENSP00000446180
Ensembl peptide - ENSP00000294288
NCBI entrez gene - 51475     See in Manteia.
OMIM - 607314
RefSeq - NM_001318496
RefSeq - NM_016366
RefSeq Peptide - NP_001305425
RefSeq Peptide - NP_057450
swissprot - Q9NPB3
swissprot - F5H458
swissprot - A0A1B0GW24
Ensembl - ENSG00000167791
  
Related genetic diseases (OMIM): 614899 - Deafness, autosomal recessive 93, 614899
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
 cabp2aENSDARG00000052016Danio rerio
 cabp2bENSDARG00000052277Danio rerio
 CABP2ENSGALG00000037497Gallus gallus
 Cabp2ENSMUSG00000024857Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CABP1 / Q9NZU7 / calcium binding protein 1ENSG0000015778258
CABP4 / P57796 / calcium binding protein 4ENSG0000017554455
CABP5 / Q9NP86 / calcium binding protein 5ENSG0000010550751
CALM2 / P0DP24 / calmodulin 2ENSG0000014393330
CALML3 / P27482 / calmodulin like 3ENSG0000017836330
CALM3 / P0DP25 / calmodulin 3ENSG0000016001430
CALM1 / P0DP23 / calmodulin 1ENSG0000019866830
TNNC2 / P02585 / troponin C2, fast skeletal typeENSG0000010147026
TNNC1 / P63316 / troponin C1, slow skeletal and cardiac typeENSG0000011485424
CALML5 / Q9NZT1 / calmodulin like 5ENSG0000017837224
CALML6 / Q8TD86 / calmodulin like 6ENSG0000016988522
CALML4 / Q96GE6 / calmodulin like 4ENSG0000012900720


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR015754  Calcium binding protein 2
 IPR018247  EF-Hand 1, calcium-binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 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:0000365 Hearing loss 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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