ENSG00000174469


Homo sapiens

Features
Gene ID: ENSG00000174469
  
Biological name :CNTNAP2
  
Synonyms : CNTNAP2 / contactin associated protein like 2 / Q9UHC6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q35
Gene start: 146116002
Gene end: 148420998
  
Corresponding Affymetrix probe sets: 215145_s_at (Human Genome U133 Plus 2.0 Array)   219300_s_at (Human Genome U133 Plus 2.0 Array)   219301_s_at (Human Genome U133 Plus 2.0 Array)   219302_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000354778
Ensembl peptide - ENSP00000487516
Ensembl peptide - ENSP00000486292
Ensembl peptide - ENSP00000485955
NCBI entrez gene - 26047     See in Manteia.
OMIM - 604569
RefSeq - NM_014141
RefSeq Peptide - NP_054860
swissprot - A0A0D9SES4
swissprot - A0A090N7T7
swissprot - B7Z1Y6
swissprot - Q9UHC6
Ensembl - ENSG00000174469
  
Related genetic diseases (OMIM): 610042 - Cortical dysplasia-focal epilepsy syndrome, 610042
  612100 - {Autism susceptibility 15}, 612100
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
 cntnap2aENSDARG00000058969Danio rerio
 cntnap2bENSDARG00000074558Danio rerio
 CNTNAP2ENSGALG00000031971Gallus gallus
 Q9CPW0ENSMUSG00000039419Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8WYK1 / CNTNAP5 / contactin associated protein like 5ENSG0000015505249
Q9C0A0 / CNTNAP4 / contactin associated protein like 4ENSG0000015291047
Q96NU0 / CNTNAP3B / contactin associated protein like 3BENSG0000015452945
Q9BZ76 / CNTNAP3 / contactin associated protein like 3ENSG0000010671445
P78357 / CNTNAP1 / contactin associated protein 1ENSG0000010879744
NRXN2 / P58401 / Q9P2S2 / neurexin 2ENSG0000011007622
NRXN3 / Q9HDB5 / Q9Y4C0 / neurexin 3ENSG0000002164522
NRXN1 / P58400 / Q9ULB1 / neurexin 1ENSG0000017991521
BX088645.1ENSG0000028337817
AC104151.1ENSG000002618331


Protein motifs (from Interpro)
Interpro ID Name
 IPR000421  Coagulation factor 5/8 C-terminal domain
 IPR000742  EGF-like domain
 IPR001791  Laminin G domain
 IPR002181  Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
 IPR003585  Neurexin/syndecan/glycophorin C
 IPR008979  Galactose-binding-like domain superfamily
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR014716  Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1
 IPR029831  Contactin-associated protein-like 2
 IPR036056  Fibrinogen-like, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007420 brain development TAS
 biological_processGO:0007612 learning IMP
 biological_processGO:0008038 neuron recognition NAS
 biological_processGO:0019226 transmission of nerve impulse NAS
 biological_processGO:0021756 striatum development IEP
 biological_processGO:0021761 limbic system development IEP
 biological_processGO:0021794 thalamus development IEP
 biological_processGO:0021987 cerebral cortex development IEP
 biological_processGO:0030534 adult behavior IMP
 biological_processGO:0031175 neuron projection development ISS
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0042297 vocal learning IMP
 biological_processGO:0045163 clustering of voltage-gated potassium channels ISS
 biological_processGO:0048812 neuron projection morphogenesis ISS
 biological_processGO:0071109 superior temporal gyrus development IEP
 biological_processGO:0071205 protein localization to juxtaparanode region of axon ISS
 biological_processGO:0071625 vocalization behavior IMP
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0008076 voltage-gated potassium channel complex NAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon NAS
 cellular_componentGO:0030425 dendrite NAS
 cellular_componentGO:0030673 axolemma IDA
 cellular_componentGO:0033010 paranodal junction IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043025 neuronal cell body NAS
 cellular_componentGO:0043204 perikaryon NAS
 cellular_componentGO:0044224 juxtaparanode region of axon ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019899 enzyme binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000735 Impaired social interactions 
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 HP:0000752 Hyperactivity 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001315 Reduced reflexes 
Show

 HP:0002194 Delayed gross motor development 
Show

 HP:0002539 Cortical dysplasia 
Show

 HP:0007064 Progressive language deterioration 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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