ENSG00000144962


Homo sapiens

Features
Gene ID: ENSG00000144962
  
Biological name :SPATA16
  
Synonyms : Q9BXB7 / SPATA16 / spermatogenesis associated 16
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q26.31
Gene start: 172889358
Gene end: 173141268
  
Corresponding Affymetrix probe sets: 223876_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000341765
NCBI entrez gene - 83893     See in Manteia.
OMIM - 609856
RefSeq - XM_017007308
RefSeq - NM_031955
RefSeq - XM_006713778
RefSeq Peptide - NP_114161
swissprot - Q9BXB7
swissprot - A0A140VJV8
Ensembl - ENSG00000144962
  
Related genetic diseases (OMIM): 102530 - ?Spermatogenic failure 6, 102530
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
 SPATA16ENSGALG00000030383Gallus gallus
 Q8C636ENSMUSG00000039335Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR029161  Spermatogenesis-associated protein 16


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:0030154 cell differentiation IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein 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:0000789 Infertility 
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 HP:0012205 Globozoospermia "Any structural anomaly of the acrosome resulting in a round sperm head." [HPO:probinson, MP:0002686]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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