ENSG00000167098


Homo sapiens

Features
Gene ID: ENSG00000167098
  
Biological name :SUN5
  
Synonyms : Q8TC36 / Sad1 and UNC84 domain containing 5 / SUN5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: q11.21
Gene start: 32983773
Gene end: 33004433
  
Corresponding Affymetrix probe sets: 233905_at (Human Genome U133 Plus 2.0 Array)   234504_at (Human Genome U133 Plus 2.0 Array)   237188_x_at (Human Genome U133 Plus 2.0 Array)   242668_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000400089
Ensembl peptide - ENSP00000348496
Ensembl peptide - ENSP00000364669
Ensembl peptide - ENSP00000364673
NCBI entrez gene - 140732     See in Manteia.
OMIM - 613942
RefSeq - XM_011528575
RefSeq - NM_080675
RefSeq - XM_011528573
RefSeq - XM_011528574
RefSeq Peptide - NP_542406
swissprot - Q5TDX9
swissprot - Q8TC36
swissprot - A9Z1W8
swissprot - Q5TDX8
Ensembl - ENSG00000167098
  
Related genetic diseases (OMIM): 617187 - Spermatogenic failure 16, 617187
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
 si:dkey-92f12.2ENSDARG00000086490Danio rerio
 ENSGALG00000040952Gallus gallus
 ENSGALG00000046588Gallus gallus
 ENSGALG00000046657Gallus gallus
 ENSGALG00000045972Gallus gallus
 ENSGALG00000044446Gallus gallus
 ENSGALG00000046634Gallus gallus
 ENSGALG00000025763Gallus gallus
 ENSGALG00000045978Gallus gallus
 ENSGALG00000046242Gallus gallus
 ENSGALG00000046307Gallus gallus
 Sun5ENSMUSG00000027480Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SPAG4 / Q9NPE6 / sperm associated antigen 4ENSG0000006165631
SUN1 / O94901 / Sad1 and UNC84 domain containing 1ENSG0000016482830
SUN2 / Q9UH99 / Sad1 and UNC84 domain containing 2ENSG0000010024227
SUN3 / Q8TAQ9 / Sad1 and UNC84 domain containing 3ENSG0000016474425


Protein motifs (from Interpro)
Interpro ID Name
 IPR008979  Galactose-binding-like domain superfamily
 IPR012919  SUN domain
 IPR030273  SUN domain-containing protein 5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006998 nuclear envelope organization IBA
 biological_processGO:0007283 spermatogenesis IEP
 biological_processGO:0007286 spermatid development ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0090286 cytoskeletal anchoring at nuclear membrane IBA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005637 nuclear inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0097224 sperm connecting piece ISS
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0043495 protein membrane anchor IBA


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:0000789 Infertility 
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 HP:0012207 Reduced sperm motility "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson]
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 HP:0012869 Acephalic spermatozoa "Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head." [HPO:probinson, pmid:10402395]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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