ENSG00000132024


Homo sapiens

Features
Gene ID: ENSG00000132024
  
Biological name :CC2D1A
  
Synonyms : CC2D1A / coiled-coil and C2 domain containing 1A / Q6P1N0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.12
Gene start: 13906201
Gene end: 13930879
  
Corresponding Affymetrix probe sets: 207083_s_at (Human Genome U133 Plus 2.0 Array)   221888_at (Human Genome U133 Plus 2.0 Array)   222137_at (Human Genome U133 Plus 2.0 Array)   58994_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000313601
Ensembl peptide - ENSP00000465376
Ensembl peptide - ENSP00000466586
Ensembl peptide - ENSP00000467526
NCBI entrez gene - 54862     See in Manteia.
OMIM - 610055
RefSeq - XM_005259975
RefSeq - NM_017721
RefSeq - XM_005259972
RefSeq - XM_005259973
RefSeq - XM_005259974
RefSeq Peptide - NP_060191
swissprot - K7EMP1
swissprot - K7EJY5
swissprot - Q6P1N0
Ensembl - ENSG00000132024
  
Related genetic diseases (OMIM): 608443 - Mental retardation, autosomal recessive 3, 608443
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
 FO704915.1ENSDARG00000036281Danio rerio
 Cc2d1aENSMUSG00000036686Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CC2D1B / Q5T0F9 / coiled-coil and C2 domain containing 1BENSG0000015422240


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR006608  Domain of unknown function DM14
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IBA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP
 cellular_componentGO:0001650 fibrillar center IDA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004871 obsolete signal transducer activity HMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0045296 cadherin binding IDA


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:0000338 Hypomimic face 
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 HP:0000736 Short attention span "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators]
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 HP:0000752 Hyperactivity 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0002546 Incomprehensible speech 
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 HP:0003621 Juvenile onset 
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 HP:0006887 Mental retardation, progressive "Mental retardation is defined as a decreased intelligence quotient of varying degree. The term progressive mental retardation should be used if intelligence decreases/deteriorates over time." [HPO:curators]
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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