ENSG00000196155


Homo sapiens

Features
Gene ID: ENSG00000196155
  
Biological name :PLEKHG4
  
Synonyms : pleckstrin homology and RhoGEF domain containing G4 / PLEKHG4 / Q58EX7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q22.1
Gene start: 67277510
Gene end: 67289499
  
Corresponding Affymetrix probe sets: 228171_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000462601
Ensembl peptide - ENSP00000457086
Ensembl peptide - ENSP00000464631
Ensembl peptide - ENSP00000353646
Ensembl peptide - ENSP00000368649
Ensembl peptide - ENSP00000398030
Ensembl peptide - ENSP00000401118
Ensembl peptide - ENSP00000454348
Ensembl peptide - ENSP00000455228
Ensembl peptide - ENSP00000455423
Ensembl peptide - ENSP00000455622
Ensembl peptide - ENSP00000455740
Ensembl peptide - ENSP00000455876
Ensembl peptide - ENSP00000456873
NCBI entrez gene - 25894     See in Manteia.
OMIM - 609526
RefSeq - XM_011522988
RefSeq - NM_001129727
RefSeq - NM_001129728
RefSeq - NM_001129729
RefSeq - NM_001129731
RefSeq - XM_011522985
RefSeq - XM_011522986
RefSeq - XM_011522987
RefSeq Peptide - NP_001123200
RefSeq Peptide - NP_001123201
RefSeq Peptide - NP_001123203
RefSeq Peptide - NP_001123199
swissprot - H3BPA8
swissprot - H3BPQ5
swissprot - H3BQ60
swissprot - H3BQE6
swissprot - H3BQP9
swissprot - J3QSC9
swissprot - H3BSU4
swissprot - Q58EX7
swissprot - A0A024R6X4
swissprot - H3BME5
Ensembl - ENSG00000196155
  
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
 plekhg4ENSDARG00000075964Danio rerio
 PLEKHG4ENSGALG00000023898Gallus gallus
 Plekhg4ENSMUSG00000014782Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96PX9 / PLEKHG4B / pleckstrin homology and RhoGEF domain containing G4BENSG0000015340432
Q8TER5 / ARHGEF40 / Rho guanine nucleotide exchange factor 40ENSG0000016580128
Q5JYT7 / KIAA1755ENSG0000014963316


Protein motifs (from Interpro)
Interpro ID Name
 IPR000219  Dbl homology (DH) domain
 IPR001849  Pleckstrin homology domain
 IPR011993  PH-like domain superfamily
 IPR035899  Dbl homology (DH) domain superfamily
 IPR036865  CRAL-TRIO lipid binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0090630 activation of GTPase activity IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0002333 Motor deterioration 
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 HP:0002495 Impaired vibratory sense "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:curators]
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 HP:0003390 Sensory axonal neuropathy "An axonal neuropathy of peripheral sensory nerves." [HPO:curators]
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 HP:0003438 Absent ankle reflexes 
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 HP:0007002 Sensory and motor axonal neuropathy 
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 HP:0010830 Loss of touch sensation 
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 HP:0010831 Impaired proprioception "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr