ENSG00000154134


Homo sapiens

Features
Gene ID: ENSG00000154134
  
Biological name :ROBO3
  
Synonyms : Q96MS0 / ROBO3 / roundabout guidance receptor 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q24.2
Gene start: 124865386
Gene end: 124881470
  
Corresponding Affymetrix probe sets: 219550_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000380903
Ensembl peptide - ENSP00000438799
Ensembl peptide - ENSP00000441797
NCBI entrez gene - 64221     See in Manteia.
OMIM - 608630
RefSeq - XM_017018122
RefSeq - NM_022370
RefSeq Peptide - NP_071765
swissprot - F5GWJ5
swissprot - Q96MS0
swissprot - F5H0K7
Ensembl - ENSG00000154134
  
Related genetic diseases (OMIM): 607313 - Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
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
 robo3ENSDARG00000005645Danio rerio
 zgc:77784ENSDARG00000042646Danio rerio
 ROBO3ENSGALG00000045816Gallus gallus
 Robo3ENSMUSG00000032128Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ROBO1 / Q9Y6N7 / roundabout guidance receptor 1ENSG0000016985543
ROBO2 / Q9HCK4 / roundabout guidance receptor 2ENSG0000018500843
ROBO4 / Q8WZ75 / roundabout guidance receptor 4ENSG0000015413318
CDON / Q4KMG0 / cell adhesion associated, oncogene regulatedENSG0000006430916
BOC / Q9BWV1 / BOC cell adhesion associated, oncogene regulatedENSG0000014485715
NCAM1 / P13591 / neural cell adhesion molecule 1ENSG0000014929413
NCAM2 / O15394 / neural cell adhesion molecule 2ENSG0000015465413


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR032987  Roundabout homologue 3
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0016199 axon midline choice point recognition ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035385 Roundabout signaling pathway IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 molecular_functionGO:0005515 protein 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:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000470 Short neck 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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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]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0002944 Thoracolumbar scoliosis 
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 HP:0003577 Onset at birth 
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 HP:0007650 Progressive ophthalmoplegia 
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 HP:0007817 Supranuclear gaze palsy, horizontal 
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000065320 NTN1 / O95631 / netrin 1  / complex / reaction
 ENSG00000187323 DCC / P43146 / DCC netrin 1 receptor  / reaction / complex
 ENSG00000154229 PRKCA / P17252 / protein kinase C alpha  / reaction / complex
 ENSG00000184613 NELL2 / Q99435 / neural EGFL like 2  / reaction / complex
 ENSG00000185008 ROBO2 / Q9HCK4 / roundabout guidance receptor 2  / complex
 ENSG00000179841 AKAP5 / P24588 / A-kinase anchoring protein 5  / reaction / complex






 

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