ENSG00000140623


Homo sapiens

Features
Gene ID: ENSG00000140623
  
Biological name :SEPT12
  
Synonyms : Q8IYM1 / SEPT12 / septin 12
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.3
Gene start: 4777669
Gene end: 4788521
  
Corresponding Affymetrix probe sets: 230947_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467281
Ensembl peptide - ENSP00000467237
Ensembl peptide - ENSP00000468601
Ensembl peptide - ENSP00000268231
Ensembl peptide - ENSP00000379922
Ensembl peptide - ENSP00000464775
NCBI entrez gene - 124404     See in Manteia.
OMIM - 611562
RefSeq - XM_017022938
RefSeq - NM_001154458
RefSeq - NM_144605
RefSeq - XM_006720846
RefSeq - XM_011522379
RefSeq Peptide - NP_001147930
RefSeq Peptide - NP_653206
swissprot - K7EIJ5
swissprot - K7EP57
swissprot - K7EP92
swissprot - Q8IYM1
swissprot - K7ES86
swissprot - A0A140VJU2
Ensembl - ENSG00000140623
  
Related genetic diseases (OMIM): 614822 - Spermatogenic failure 10, 614822
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
 sept12ENSDARG00000019191Danio rerio
 SEPT12ENSGALG00000029027Gallus gallus
 Sept12ENSMUSG00000022542Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SEPT9 / Q9UHD8 / septin 9ENSG0000018464056
SEPT3 / Q9UH03 / septin 3ENSG0000010016753
SEPT4 / O43236 / septin 4ENSG0000010838741
SEPT2 / Q15019 / septin 2ENSG0000016838538
AC000093.1ENSG0000028487438
SEPT5 / Q99719 / septin 5ENSG0000018470238
SEPT1 / septin 1ENSG0000018009637
SEPT7 / Q16181 / septin 7ENSG0000012254536


Protein motifs (from Interpro)
Interpro ID Name
 IPR016491  Septin
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030379  Septin-type guanine nucleotide-binding (G) domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0097722 sperm motility IEA
 cellular_componentGO:0001725 stress fiber ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0015630 microtubule cytoskeleton IDA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0031105 septin complex ISS
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0032154 cleavage furrow ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0097227 sperm annulus IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019003 GDP binding ISS
 molecular_functionGO:0035091 phosphatidylinositol binding ISS
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000789 Infertility 
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 HP:0012864 Abnormal sperm morphology "A structural anomaly of sperm." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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