ENSG00000174611


Homo sapiens

Features
Gene ID: ENSG00000174611
  
Biological name :KY
  
Synonyms : KY / kyphoscoliosis peptidase / Q8NBH2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q22.2
Gene start: 134603138
Gene end: 134651636
  
Corresponding Affymetrix probe sets: 1556411_s_at (Human Genome U133 Plus 2.0 Array)   1564254_at (Human Genome U133 Plus 2.0 Array)   1569991_at (Human Genome U133 Plus 2.0 Array)   244572_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000426777
Ensembl peptide - ENSP00000397598
Ensembl peptide - ENSP00000421297
NCBI entrez gene - 339855     See in Manteia.
OMIM - 605739
RefSeq - XM_017006290
RefSeq - NM_178554
RefSeq - XM_017006287
RefSeq - XM_017006288
RefSeq - XM_017006289
RefSeq - XM_005247418
RefSeq - XM_006713612
RefSeq Peptide - NP_848649
swissprot - Q8NBH2
swissprot - B4DGA7
Ensembl - ENSG00000174611
  
Related genetic diseases (OMIM): 617114 - Myopathy, myofibrillar, 7, 617114
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
 kyENSDARG00000074036Danio rerio
 KYENSGALG00000044975Gallus gallus
 KyENSMUSG00000035606Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002931  Transglutaminase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0030018 Z disc ISS
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity 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:0001265 Hyporeflexia 
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 HP:0001762 Talipes equinovarus "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators]
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 HP:0001771 Achilles tendon contractures 
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 HP:0002355 Difficulty walking 
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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:0003236 Elevated serum creatine phosphokinase 
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 HP:0003306 Spinal rigidity 
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 HP:0003307 Hyperlordosis 
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 HP:0003677 Slow progression 
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 HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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