ENSG00000106460


Homo sapiens

Features
Gene ID: ENSG00000106460
  
Biological name :TMEM106B
  
Synonyms : Q9NUM4 / TMEM106B / transmembrane protein 106B
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p21.3
Gene start: 12211241
Gene end: 12243367
  
Corresponding Affymetrix probe sets: 218930_s_at (Human Genome U133 Plus 2.0 Array)   222787_s_at (Human Genome U133 Plus 2.0 Array)   226529_at (Human Genome U133 Plus 2.0 Array)   233666_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000379901
Ensembl peptide - ENSP00000401302
Ensembl peptide - ENSP00000391985
Ensembl peptide - ENSP00000391016
Ensembl peptide - ENSP00000379902
NCBI entrez gene - 54664     See in Manteia.
OMIM - 613413
RefSeq - XM_005249789
RefSeq - NM_001134232
RefSeq - NM_018374
RefSeq Peptide - NP_001127704
RefSeq Peptide - NP_060844
swissprot - C9JZ87
swissprot - F2Z3N7
swissprot - C9J998
swissprot - A0A024R9Z1
swissprot - Q9NUM4
Ensembl - ENSG00000106460
  
Related genetic diseases (OMIM): 617964 - Leukodystrophy, hypomyelinating, 16, 617964
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
 tmem106bbENSDARG00000035949Danio rerio
 TMEM106BENSGALG00000035140Gallus gallus
 Q80X71ENSMUSG00000029571Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9BVX2 / TMEM106C / transmembrane protein 106CENSG0000013429142
Q96A25 / TMEM106A / transmembrane protein 106AENSG0000018498840


Protein motifs (from Interpro)
Interpro ID Name
 IPR009790  Protein of unknown function DUF1356, TMEM106
 IPR013783  Immunoglobulin-like fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007040 lysosome organization IBA
 biological_processGO:0007041 lysosomal transport IBA
 biological_processGO:0032418 lysosome localization IMP
 biological_processGO:0048813 dendrite morphogenesis IMP
 biological_processGO:1900006 positive regulation of dendrite development IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031902 late endosome membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000474 Excess nuchal skin 
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 HP:0000709 Psychosis "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators]
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 HP:0000710 Hyperorality 
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 HP:0000711 Restlessness 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000719 Inappropriate behavior 
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 HP:0000723 Restrictive behaviour, interests, and activities 
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 HP:0000726 Dementia 
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 HP:0000733 Stereotyped, repetitive behaviour 
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 HP:0000734 Disinhibition 
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 HP:0000737 Irritability 
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 HP:0000739 Anxiety 
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 HP:0000741 Apathy 
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 HP:0000751 Personality changes 
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 HP:0000757 Lack of insight 
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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:0001300 Parkinsonism 
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0002069 Generalized tonic-clonic seizures "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators]
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 HP:0002071 Extrapyramidal signs 
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 HP:0002145 Frontotemporal dementia 
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 HP:0002186 Apraxia "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators]
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 HP:0002300 Mutism 
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 HP:0002354 Memory impairment 
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 HP:0002357 Dysphasia 
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 HP:0002366 Lower motor neuron signs 
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 HP:0002371 Loss of speech 
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 HP:0002380 Fasciculations "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators]
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 HP:0002381 Aphasia 
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 HP:0002427 Motor aphasia 
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 HP:0002442 Dyscalculia 
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 HP:0002446 Astrocytosis 
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 HP:0002465 Poor speech 
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 HP:0002493 Corticospinal tract dysfunction 
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 HP:0002500 Abnormality of the cerebral white matter 
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 HP:0006892 Cerebral atrophy, frontotemporal, progressive 
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 HP:0006977 Grammar-specific speech disorder 
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 HP:0007112 Mri shows frontal and temporal cortical atrophy 
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 HP:0010522 Dyslexia "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [HPO:curators]
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 HP:0010523 Alexia "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [HPO:curators]
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 HP:0010526 Dysgraphia "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators]
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 HP:0010529 Echolalia "The tendency to repeat vocalizations made by another person." [HPO:curators]
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 HP:0011204 EEG with continuous slow activity "EEG showing diffuse slowing without interruption." [HPO:jalbers]
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 HP:0012444 Brain atrophy "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson]
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 HP:0012658 Abnormal brain FDG positron emission tomography "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity." [HPO:probinson]
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 HP:0012671 Abulia "Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency." [HPO:probinson, pmid:16030444, UToronto:HTrang]
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 HP:0030212 Collectionism "Excessive or pathological tendency to save and collect possessions." []
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 HP:0030213 Emotional blunting "Lack of emotional reactivity and empathy for situations or persons, sometime also for family members." [ICM:PCaroppo]
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 HP:0030222 Visual agnosia "Difficulty in recognizing objects by visual input in absence of sensorial visual impairment." [ICM:PCaroppo]
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 HP:0030223 Perseveration "Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact." [HPO:probinson, pmid:9050113]
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 HP:0030391 Spoken Word Recognition Deficit "Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus." [HPO:probinson]
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 HP:0030784 Anomia "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name." [] {comment="HPO:probinson"}
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 HP:0100256 Senile plaques "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken]
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 HP:0500014 Abnormal test result "Abnormal finding in a diagnostic test or assay." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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