ENSG00000188937


Homo sapiens

Features
Gene ID: ENSG00000188937
  
Biological name :NYX
  
Synonyms : nyctalopin / NYX / Q9GZU5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p11.4
Gene start: 41447434
Gene end: 41475710
  
Corresponding Affymetrix probe sets: 221684_s_at (Human Genome U133 Plus 2.0 Array)   234496_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000340328
Ensembl peptide - ENSP00000367465
NCBI entrez gene - 60506     See in Manteia.
OMIM - 300278
RefSeq - XM_017029709
RefSeq - NM_022567
RefSeq Peptide - NP_072089
swissprot - Q9GZU5
Ensembl - ENSG00000188937
  
Related genetic diseases (OMIM): 310500 - Night blindness, congenital stationary (complete), 1A, X-linked, 310500
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
 nyxENSDARG00000061791Danio rerio
 NYXENSGALG00000016228Gallus gallus
 NyxENSMUSG00000051228Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHADL / Q6NUI6 / chondroadherin likeENSG0000010039928
TRIL / Q7L0X0 / TLR4 interactor with leucine rich repeatsENSG0000025569028
IGFALS / P35858 / insulin like growth factor binding protein acid labile subunitENSG0000009976928
LRRC15 / Q8TF66 / leucine rich repeat containing 15ENSG0000017206126
GP5 / P40197 / glycoprotein V plateletENSG0000017873224
CPN2 / P22792 / carboxypeptidase N subunit 2ENSG0000017877223
LRRC70 / Q7Z2Q7 / leucine rich repeat containing 70ENSG0000018610523
LRRTM4 / Q86VH4 / leucine rich repeat transmembrane neuronal 4ENSG0000017620420
LRRTM3 / Q86VH5 / leucine rich repeat transmembrane neuronal 3ENSG0000019873920
LRRTM1 / Q86UE6 / leucine rich repeat transmembrane neuronal 1ENSG0000016295119
LRRTM2 / O43300 / leucine rich repeat transmembrane neuronal 2ENSG0000014600619
CHAD / O15335 / chondroadherinENSG0000013645714


Protein motifs (from Interpro)
Interpro ID Name
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006469 negative regulation of protein kinase activity IBA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:0019221 cytokine-mediated signaling pathway IBA
 biological_processGO:0046426 negative regulation of JAK-STAT cascade IBA
 biological_processGO:0050896 response to stimulus IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0004860 protein kinase inhibitor activity IBA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000545 Myopia 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0007642 Congenital stationary night blindness 
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 HP:0007663 Decreased central vision 
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 HP:0007766 Hypoplastic optic disks 
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 HP:0008002 Macular pigmentary changes 
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 HP:0011003 Severe Myopia 
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 HP:0012047 Hemeralopia "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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