ENSG00000147475


Homo sapiens

Features
Gene ID: ENSG00000147475
  
Biological name :ERLIN2
  
Synonyms : ERLIN2 / ER lipid raft associated 2 / O94905
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: p11.23
Gene start: 37736599
Gene end: 37759101
  
Corresponding Affymetrix probe sets: 221542_s_at (Human Genome U133 Plus 2.0 Array)   221543_s_at (Human Genome U133 Plus 2.0 Array)   238615_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429229
Ensembl peptide - ENSP00000473292
Ensembl peptide - ENSP00000429903
Ensembl peptide - ENSP00000429621
Ensembl peptide - ENSP00000276461
Ensembl peptide - ENSP00000335220
Ensembl peptide - ENSP00000380405
Ensembl peptide - ENSP00000427847
Ensembl peptide - ENSP00000428112
NCBI entrez gene - 11160     See in Manteia.
OMIM - 611605
RefSeq - XM_005273392
RefSeq - XM_017013000
RefSeq - NM_001003791
RefSeq - NM_007175
RefSeq - XM_006716280
RefSeq - NM_001003790
RefSeq Peptide - NP_001003790
RefSeq Peptide - NP_001003791
RefSeq Peptide - NP_009106
swissprot - O94905
swissprot - E5RJ09
swissprot - E5RHW4
Ensembl - ENSG00000147475
  
Related genetic diseases (OMIM): 611225 - Spastic paraplegia 18, autosomal recessive, 611225
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
 A3QK16ENSDARG00000086523Danio rerio
 erlin2ENSDARG00000095968Danio rerio
 ERLIN2ENSGALG00000003092Gallus gallus
 Erlin2ENSMUSG00000031483Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ERLIN1 / O75477 / ER lipid raft associated 1ENSG0000010756673


Protein motifs (from Interpro)
Interpro ID Name
 IPR001107  Band 7 domain
 IPR033294  Erlin1/2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0030433 ubiquitin-dependent ERAD pathway IDA
 biological_processGO:0032933 SREBP signaling pathway IMP
 biological_processGO:0045541 negative regulation of cholesterol biosynthetic process IMP
 biological_processGO:0045717 negative regulation of fatty acid biosynthetic process IMP
 biological_processGO:0055085 transmembrane transport TAS
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0045121 membrane raft IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004713 protein tyrosine kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015485 cholesterol binding IBA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI


Pathways (from Reactome)
Pathway description
ABC-family proteins mediated transport
Signaling by FGFR1 in disease
Defective CFTR causes cystic fibrosis
Signaling by plasma membrane FGFR1 fusions


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:0000014 Abnormality of the bladder 
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 HP:0000183 Difficulty in tongue movements 
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 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:0000496 Abnormality of eye movement "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson]
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 HP:0000763 Sensory neuropathy "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators]
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 HP:0001239 Wrist contractures 
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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]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001258 Spastic paraplegia 
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 HP:0001285 Spastic tetraparesis "Spastic weakness affecting all four limbs." [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:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001344 Absent speech development 
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001761 Pes cavus 
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 HP:0002010 Narrow maxilla 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002064 Spastic gait 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002127 Upper motor neuron abnormality 
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 HP:0002141 Gait imbalance 
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 HP:0002193 Pseudobulbar behavioral symptoms "Individuals with `Pseudobulbar signs` (HP:0002200) often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken]
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 HP:0002194 Delayed gross motor development 
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 HP:0002355 Difficulty walking 
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 HP:0002371 Loss of speech 
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 HP:0002381 Aphasia 
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 HP:0002463 Language impairment 
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 HP:0002464 Spastic dysarthria 
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 HP:0002509 Limb hypertonia 
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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:0002987 Elbow contractures 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003273 Hip contractures 
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0003677 Slow progression 
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 HP:0005830 Partial flexion contractures of fingers and toes 
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 HP:0006380 Knee flexion deformities 
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 HP:0006466 Contractures of the ankles 
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 HP:0006986 Upper limb spasticity 
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 HP:0007024 Pseudobulbar paralysis "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by `Pseudobulbar behavioral symptoms` (HP:0002193) such as enforced crying and laughing." [HPO:sdoelken]
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 HP:0007256 Mild pyramidal signs 
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0012662 Parietal hypometabolism in FDG PET "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, pmid:15073255]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0012785 Flexion contracture of finger "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [HPO:probinson]
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 HP:0030904 Glabellar reflex "A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson s sign." [] {comment="HPO:probinson"}
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 HP:0040083 Toe walking 
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 HP:0045037 Abnormality of jaw muscles 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000133703 KRAS / P01116 / KRAS proto-oncogene, GTPase  / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000213281 NRAS / P01111 / NRAS proto-oncogene, GTPase  / reaction
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000147475 ERLIN2 / O94905 / ER lipid raft associated 2  / complex / reaction
 ENSG00000166225 FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000077782 FGFR1 / P11362 / fibroblast growth factor receptor 1  / reaction
 ENSG00000107566 ERLIN1 / O75477 / ER lipid raft associated 1  / complex






 

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