ENSG00000120498


Homo sapiens

Features
Gene ID: ENSG00000120498
  
Biological name :TEX11
  
Synonyms : Q8IYF3 / testis expressed 11 / TEX11
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q13.1
Gene start: 70528940
Gene end: 70908731
  
Corresponding Affymetrix probe sets: 221259_s_at (Human Genome U133 Plus 2.0 Array)   233514_x_at (Human Genome U133 Plus 2.0 Array)   234296_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000340995
Ensembl peptide - ENSP00000363440
Ensembl peptide - ENSP00000363453
Ensembl peptide - ENSP00000379226
NCBI entrez gene - 56159     See in Manteia.
OMIM - 300311
RefSeq - XM_017029652
RefSeq - NM_001003811
RefSeq - NM_031276
RefSeq - XM_017029649
RefSeq - XM_017029650
RefSeq - XM_017029651
RefSeq - XM_011530994
RefSeq - XM_011530996
RefSeq Peptide - NP_112566
RefSeq Peptide - NP_001003811
swissprot - Q8IYF3
Ensembl - ENSG00000120498
  
Related genetic diseases (OMIM): 309120 - Spermatogenic failure, X-linked, 2, 309120
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
 tex11ENSDARG00000078995Danio rerio
 TEX11ENSGALG00000005775Gallus gallus
 Tex11ENSMUSG00000009670Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013940  Meiosis specific protein Spo22/ZIP4/TEX11
 IPR019734  Tetratricopeptide repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000712 resolution of meiotic recombination intermediates IEA
 biological_processGO:0006311 meiotic gene conversion ISS
 biological_processGO:0007060 male meiosis chromosome segregation IEA
 biological_processGO:0007130 synaptonemal complex assembly IEA
 biological_processGO:0007131 reciprocal meiotic recombination ISS
 biological_processGO:0007140 male meiotic nuclear division IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0009566 fertilization IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0051026 chiasma assembly IEA
 biological_processGO:0051321 meiotic cell cycle IEA
 cellular_componentGO:0000794 condensed nuclear chromosome IEA
 cellular_componentGO:0000795 synaptonemal complex ISS
 cellular_componentGO:0000801 central element IEA
 cellular_componentGO:0005694 chromosome IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000027 Azoospermia 
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 HP:0000837 Elevated gonadotropins 
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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:0001939 Metabolism abnormality 
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 HP:0003251 Male infertility 
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 HP:0008734 Decreased testicular size 
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 HP:0011961 Non-obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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 HP:0011962 Obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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