ENSG00000269404


Homo sapiens

Features
Gene ID: ENSG00000269404
  
Biological name :SPIB
  
Synonyms : Q01892 / SPIB / Spi-B transcription factor
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 50418938
Gene end: 50431313
  
Corresponding Affymetrix probe sets: 205861_at (Human Genome U133 Plus 2.0 Array)   232739_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000472626
Ensembl peptide - ENSP00000391877
Ensembl peptide - ENSP00000270632
Ensembl peptide - ENSP00000470970
Ensembl peptide - ENSP00000471921
Ensembl peptide - ENSP00000469023
NCBI entrez gene - 6689     See in Manteia.
OMIM - 606802
RefSeq - NM_003121
RefSeq - NM_001243998
RefSeq - NM_001243999
RefSeq - NM_001244000
RefSeq Peptide - NP_001230927
RefSeq Peptide - NP_003112
RefSeq Peptide - NP_001230929
RefSeq Peptide - NP_001230928
swissprot - Q01892
swissprot - A0A024R4I5
swissprot - M0QXA8
swissprot - M0R037
swissprot - M0R2J9
Ensembl - ENSG00000269404
  

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
 SpibENSMUSG00000008193Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC020909.1ENSG0000014253998
SPI1 / P17947 / Spi-1 proto-oncogeneENSG0000006633641
SPIC / Q8N5J4 / Spi-C transcription factorENSG0000016621127


Protein motifs (from Interpro)
Interpro ID Name
 IPR000418  Ets domain
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain 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 TAS
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0030154 cell differentiation IBA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm TAS
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IMP
 molecular_functionGO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000820 Abnormality of the thyroid gland 
Show

 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
Show

 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
Show

 HP:0000953 Hyperpigmentation 
Show

 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
Show

 HP:0001262 Somnolence 
Show

 HP:0001278 Orthostatic hypotension "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators]
Show

 HP:0001394 Cirrhosis 
Show

 HP:0001395 Hepatic fibrosis 
Show

 HP:0001399 Hepatic failure 
Show

 HP:0001402 Hepatocellular carcinoma 
Show

 HP:0001409 Portal hypertension 
Show

 HP:0001541 Ascites 
Show

 HP:0002608 Celiac disease 
Show

 HP:0002613 Biliary cirrhosis 
Show

 HP:0002908 Conjugated hyperbilirubinemia 
Show

 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
Show

 HP:0003119 Abnormality of lipid metabolism 
Show

 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
Show

 HP:0003261 Increased IgA level "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson]
Show

 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
Show

 HP:0003493 Antinuclear antibody positive 
Show

 HP:0003496 Increased IgM level "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
Show

 HP:0004386 Gastrointestinal inflammatory disorder 
Show

 HP:0011040 Abnormality of the intrahepatic bile duct "An abnormality of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson]
Show

 HP:0011971 Dermatographic urticaria "An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson]
Show

 HP:0012115 Hepatitis "Inflammation of the liver." [HPO:probinson]
Show

 HP:0012203 Onychomycosis "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson]
Show

 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
Show

  


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






 

1 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