ENSG00000170099


Homo sapiens

Features
Gene ID: ENSG00000170099
  
Biological name :SERPINA6
  
Synonyms : P08185 / SERPINA6 / serpin family A member 6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q32.13
Gene start: 94304248
Gene end: 94323394
  
Corresponding Affymetrix probe sets: 206325_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000451045
Ensembl peptide - ENSP00000452018
Ensembl peptide - ENSP00000342850
NCBI entrez gene - 866     See in Manteia.
OMIM - 122500
RefSeq - NM_001756
RefSeq Peptide - NP_001747
swissprot - P08185
swissprot - G3V350
swissprot - G3V4V7
Ensembl - ENSG00000170099
  
Related genetic diseases (OMIM): 611489 - Corticosteroid-binding globulin deficiency, 611489
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
 serpina1ENSDARG00000090286Danio rerio
 serpina1lENSDARG00000090850Danio rerio
 serpina7ENSDARG00000087143Danio rerio
 si:ch211-186e20.2ENSDARG00000074712Danio rerio
 si:ch211-186e20.7ENSDARG00000077960Danio rerio
 zgc:174259ENSDARG00000091136Danio rerio
 ENSGALG00000020388Gallus gallus
 ENSGALG00000028598Gallus gallus
 ENSGALG00000046409Gallus gallus
 ENSGALG00000020390Gallus gallus
 SPIA1ENSGALG00000023070Gallus gallus
 SPIA4ENSGALG00000010969Gallus gallus
 Q06770ENSMUSG00000060807Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P01011 / SERPINA3 / serpin family A member 3ENSG0000019613646
P29622 / SERPINA4 / serpin family A member 4ENSG0000010066543
Q86WD7 / SERPINA9 / serpin family A member 9ENSG0000017005442
P01009 / SERPINA1 / serpin family A member 1ENSG0000019724941
P05154 / SERPINA5 / serpin family A member 5ENSG0000018848841
P05543 / SERPINA7 / serpin family A member 7ENSG0000012356140
Q86U17 / SERPINA11 / serpin family A member 11ENSG0000018691039
Q8IW75 / SERPINA12 / serpin family A member 12ENSG0000016595332
P05546 / SERPIND1 / serpin family D member 1ENSG0000009993730
Q9UK55 / SERPINA10 / serpin family A member 10ENSG0000014009327
SERPINA2 / serpin family A member 2 (gene/pseudogene)ENSG0000025859726


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR036186  Serpin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008211 glucocorticoid metabolic process IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity TAS
 molecular_functionGO:0005496 steroid binding IEA
 molecular_functionGO:0008289 lipid binding IEA


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: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:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0002615 Hypotension 
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 HP:0003750 Muscle fatigue "An abnormal, increased fatigability of the musculature." [HPO:curators]
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 HP:0003812 Phenotypic variability 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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