ENSG00000198799


Homo sapiens

Features
Gene ID: ENSG00000198799
  
Biological name :LRIG2
  
Synonyms : leucine rich repeats and immunoglobulin like domains 2 / LRIG2 / O94898
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p13.2
Gene start: 113073209
Gene end: 113132260
  
Corresponding Affymetrix probe sets: 205953_at (Human Genome U133 Plus 2.0 Array)   238653_at (Human Genome U133 Plus 2.0 Array)   242164_s_at (Human Genome U133 Plus 2.0 Array)   242165_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000355396
NCBI entrez gene - 9860     See in Manteia.
OMIM - 608869
RefSeq - XM_017002952
RefSeq - NM_001312686
RefSeq - NM_014813
RefSeq - XM_005271369
RefSeq Peptide - NP_001299615
RefSeq Peptide - NP_055628
swissprot - O94898
Ensembl - ENSG00000198799
  
Related genetic diseases (OMIM): 615112 - Urofacial syndrome 2, 615112
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
 lrig2ENSDARG00000078561Danio rerio
 LRIG2ENSGALG00000001733Gallus gallus
 Lrig2ENSMUSG00000032913Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRIG3 / Q6UXM1 / leucine rich repeats and immunoglobulin like domains 3ENSG0000013926355
LRIG1 / Q96JA1 / leucine rich repeats and immunoglobulin like domains 1ENSG0000014474948
ADGRA3 / Q8IWK6 / adhesion G protein-coupled receptor A3ENSG0000015299017
ADGRA2 / Q96PE1 / adhesion G protein-coupled receptor A2ENSG0000002018116
VASN / Q6EMK4 / vasorinENSG0000016814013
LGI3 / Q8N145 / leucine rich repeat LGI family member 3ENSG0000016848112
LGI4 / Q8N135 / leucine rich repeat LGI family member 4ENSG0000015390211
LGI2 / Q8N0V4 / leucine rich repeat LGI family member 2ENSG0000015301210
LGI1 / O95970 / leucine rich glioma inactivated 1ENSG0000010823110
ADGRA1 / Q86SQ6 / adhesion G protein-coupled receptor A1ENSG000001971776


Protein motifs (from Interpro)
Interpro ID Name
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR032675  Leucine-rich repeat domain superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0010640 regulation of platelet-derived growth factor receptor signaling pathway IEA
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0048679 regulation of axon regeneration IEA
 biological_processGO:0048681 negative regulation of axon regeneration IEA
 biological_processGO:0051045 negative regulation of membrane protein ectodomain proteolysis IEA
 biological_processGO:0060384 innervation IEA
 biological_processGO:2000010 positive regulation of protein localization to cell surface IEA
 biological_processGO:2001222 regulation of neuron migration IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0097708 intracellular vesicle IEA
 molecular_functionGO:0005102 signaling receptor binding 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:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000012 Urinary urgency 
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 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000126 Hydronephrosis 
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 HP:0000796 Urethral obstruction 
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 HP:0000805 Enuresis "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001959 Polydipsia 
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 HP:0002019 Constipation 
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 HP:0002607 Bowel incontinence 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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