ENSG00000135899


Homo sapiens

Features
Gene ID: ENSG00000135899
  
Biological name :SP110
  
Synonyms : Q9HB58 / SP110 / SP110 nuclear body protein
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q37.1
Gene start: 230167293
Gene end: 230225729
  
Corresponding Affymetrix probe sets: 208012_x_at (Human Genome U133 Plus 2.0 Array)   208392_x_at (Human Genome U133 Plus 2.0 Array)   209761_s_at (Human Genome U133 Plus 2.0 Array)   209762_x_at (Human Genome U133 Plus 2.0 Array)   223980_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000387172
Ensembl peptide - ENSP00000375902
Ensembl peptide - ENSP00000393992
Ensembl peptide - ENSP00000439558
Ensembl peptide - ENSP00000258381
Ensembl peptide - ENSP00000258382
Ensembl peptide - ENSP00000351488
NCBI entrez gene - 3431     See in Manteia.
OMIM - 604457
RefSeq - XM_017003970
RefSeq - XM_006712489
RefSeq - XM_011511088
RefSeq - XM_011511089
RefSeq - XM_011511090
RefSeq - XM_011511091
RefSeq - XM_011511092
RefSeq - XM_017003968
RefSeq - XM_017003969
RefSeq - NM_001185015
RefSeq - NM_004509
RefSeq - NM_004510
RefSeq - NM_080424
RefSeq - XM_005246525
RefSeq - XM_006712487
RefSeq Peptide - NP_004501
RefSeq Peptide - NP_536349
RefSeq Peptide - NP_001171944
RefSeq Peptide - NP_004500
swissprot - Q9HB58
swissprot - G5E9C0
swissprot - E7EM70
swissprot - C9JZQ4
Ensembl - ENSG00000135899
  
Related genetic diseases (OMIM): 235550 - Hepatic venoocclusive disease with immunodeficiency, 235550
  607948 - {Mycobacterium tuberculosis, susceptibility to}, 607948

This gene has been taged as a transcription factor by TFT
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
 sp100.1ENSDARG00000055359Danio rerio
 sp100.2ENSDARG00000102588Danio rerio
 sp100.3ENSDARG00000090449Danio rerio
 Sp110ENSMUSG00000070034Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SP140 / Q13342 / SP140 nuclear body proteinENSG0000007926332
Q9H930 / SP140L / SP140 nuclear body protein likeENSG0000018540429
SP100 / P23497 / SP100 nuclear antigenENSG0000006706629


Protein motifs (from Interpro)
Interpro ID Name
 IPR000770  SAND domain
 IPR001487  Bromodomain
 IPR001965  Zinc finger, PHD-type
 IPR004865  HSR domain
 IPR010919  SAND-like domain superfamily
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR019786  Zinc finger, PHD-type, conserved site
 IPR019787  Zinc finger, PHD-finger
 IPR036427  Bromodomain-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0016032 viral process IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0003677 DNA binding TAS
 molecular_functionGO:0004871 obsolete signal transducer activity TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046872 metal ion 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]
Show

 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
Show

 HP:0001392 Abnormality of the liver 
Show

 HP:0002721 Immunodeficiency 
Show

 HP:0002849 Lymph nodes lack germinal centers 
Show

 HP:0004315 Decreased IgG level "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson]
Show

 HP:0006685 Endocardial fibrosis "The presence of excessive connective tissue in the `endocardium` (FMA:7280)." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr