ENSG00000133454


Homo sapiens

Features
Gene ID: ENSG00000133454
  
Biological name :MYO18B
  
Synonyms : MYO18B / myosin XVIIIB / Q8IUG5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q12.1
Gene start: 25742144
Gene end: 26031041
  
Corresponding Affymetrix probe sets: 1554579_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000441301
Ensembl peptide - ENSP00000441229
Ensembl peptide - ENSP00000444262
Ensembl peptide - ENSP00000334563
Ensembl peptide - ENSP00000386096
Ensembl peptide - ENSP00000437587
NCBI entrez gene - 84700     See in Manteia.
OMIM - 607295
RefSeq - XM_017029017
RefSeq - XM_011530465
RefSeq - XM_011530466
RefSeq - XM_017029012
RefSeq - XM_017029013
RefSeq - XM_017029014
RefSeq - XM_017029015
RefSeq - XM_017029016
RefSeq - NM_001318245
RefSeq - NM_032608
RefSeq - XM_011530458
RefSeq - XM_011530459
RefSeq - XM_011530460
RefSeq - XM_011530461
RefSeq - XM_011530464
RefSeq Peptide - NP_001305174
RefSeq Peptide - NP_115997
swissprot - H0YGQ4
swissprot - F5GXR6
swissprot - A0A075B6F5
swissprot - Q8IUG5
swissprot - F5H6I8
Ensembl - ENSG00000133454
  
Related genetic diseases (OMIM): 616549 - Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549
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
 MYO18BENSGALG00000045218Gallus gallus
 Myo18bENSMUSG00000072720Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYO18A / Q92614 / myosin XVIIIAENSG0000019653532


Protein motifs (from Interpro)
Interpro ID Name
 IPR000048  IQ motif, EF-hand binding site
 IPR001609  Myosin head, motor domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR028561  Unconventional myosin-XVIIIb
 IPR036064  Class XVIII myosin, motor domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007018 microtubule-based movement IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016459 myosin complex IEA
 cellular_componentGO:0016461 unconventional myosin complex IDA
 cellular_componentGO:0030017 sarcomere IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008017 microtubule 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:0000219 Thin upper lip 
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 HP:0000232 Everted lower lip 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000343 Long philtrum 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000414 Bulbous nose 
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 HP:0000430 Hypoplastic nasal alae "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422]
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 HP:0000465 Webbed neck 
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 HP:0000470 Short neck 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0002162 Low posterior hairline 
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 HP:0002944 Thoracolumbar scoliosis 
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 HP:0002949 Fused cervical vertebrae 
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 HP:0003198 Myopathy 
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 HP:0003502 Mild short stature "A mild degree of short stature." [HPO:curators]
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 HP:0008807 Acetabular dysplasia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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