ENSG00000073464


Homo sapiens

Features
Gene ID: ENSG00000073464
  
Biological name :CLCN4
  
Synonyms : chloride voltage-gated channel 4 / CLCN4 / P51793
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.2
Gene start: 10156945
Gene end: 10237660
  
Corresponding Affymetrix probe sets: 205148_s_at (Human Genome U133 Plus 2.0 Array)   205149_s_at (Human Genome U133 Plus 2.0 Array)   214769_at (Human Genome U133 Plus 2.0 Array)   217556_at (Human Genome U133 Plus 2.0 Array)   231066_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000370213
Ensembl peptide - ENSP00000405754
Ensembl peptide - ENSP00000403064
Ensembl peptide - ENSP00000370209
NCBI entrez gene - 1183     See in Manteia.
OMIM - 302910
RefSeq - NM_001256944
RefSeq - NM_001830
RefSeq Peptide - NP_001243873
RefSeq Peptide - NP_001821
swissprot - P51793
swissprot - G3XAG5
swissprot - E9PFB5
Ensembl - ENSG00000073464
  
Related genetic diseases (OMIM): 300114 - Mental retardation, X-linked 49/15, 300114
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
 clcn4ENSDARG00000035808Danio rerio
 CLCN4ENSGALG00000016607Gallus gallus
 Clcn4ENSMUSG00000000605Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CLCN5 / P51795 / chloride voltage-gated channel 5ENSG0000017136577
CLCN3 / P51790 / chloride voltage-gated channel 3ENSG0000010957276
CLCN7 / P51798 / chloride voltage-gated channel 7ENSG0000010324929
CLCN6 / P51797 / chloride voltage-gated channel 6ENSG0000001102127
CLCN2 / P51788 / chloride voltage-gated channel 2ENSG0000011485924
CLCN1 / P35523 / chloride voltage-gated channel 1ENSG0000018803723
CLCNKB / P51801 / chloride voltage-gated channel KbENSG0000018490821
CLCNKA / P51800 / chloride voltage-gated channel KaENSG0000018651020


Protein motifs (from Interpro)
Interpro ID Name
 IPR000644  CBS domain
 IPR001807  Chloride channel, voltage gated
 IPR002246  Chloride channel ClC-4
 IPR014743  Chloride channel, core


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IDA
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0031902 late endosome membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005247 voltage-gated chloride channel activity TAS
 molecular_functionGO:0005254 chloride channel activity IDA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015297 antiporter activity TAS


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000280 Coarse facial features 
Show

 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:0000708 Behavioural/Psychiatric Abnormality 
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 HP:0001249 Mental retardation 
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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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:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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