ENSG00000141384


Homo sapiens

Features
Gene ID: ENSG00000141384
  
Biological name :TAF4B
  
Synonyms : Q92750 / TAF4B / TATA-box binding protein associated factor 4b
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q11.2
Gene start: 26225936
Gene end: 26391685
  
Corresponding Affymetrix probe sets: 216226_at (Human Genome U133 Plus 2.0 Array)   235020_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000269142
Ensembl peptide - ENSP00000389365
Ensembl peptide - ENSP00000462980
NCBI entrez gene - 6875     See in Manteia.
OMIM - 601689
RefSeq - XM_017025933
RefSeq - NM_001293725
RefSeq - NM_005640
RefSeq - XM_005258339
RefSeq - XM_011526153
RefSeq - XM_017025932
RefSeq Peptide - NP_001280654
RefSeq Peptide - NP_005631
swissprot - J3KTH2
swissprot - Q92750
Ensembl - ENSG00000141384
  
Related genetic diseases (OMIM): 615841 - ?Spermatogenic failure 13, 615841
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
 taf4bENSDARG00000075732Danio rerio
 TAF4BENSGALG00000015122Gallus gallus
 Taf4bENSMUSG00000054321Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TAF4 / O00268 / TATA-box binding protein associated factor 4ENSG0000013069935


Protein motifs (from Interpro)
Interpro ID Name
 IPR003894  TAFH/NHR1
 IPR007900  Transcription initiation factor TFIID component TAF4
 IPR009072  Histone-fold
 IPR037249  TAFH/NHR1 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006352 DNA-templated transcription, initiation IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006368 transcription elongation from RNA polymerase II promoter TAS
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IBA
 biological_processGO:0048477 oogenesis IEA
 biological_processGO:0051123 RNA polymerase II transcriptional preinitiation complex assembly IEA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 biological_processGO:2000648 positive regulation of stem cell proliferation IEA
 cellular_componentGO:0001650 fibrillar center IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005669 transcription factor TFIID complex IBA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0001075 transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly IBA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003713 transcription coactivator activity IBA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0051059 NF-kappaB binding IPI


Pathways (from Reactome)
Pathway description
HIV Transcription Initiation
RNA Polymerase II HIV Promoter Escape
Transcription of the HIV genome
RNA Polymerase II Pre-transcription Events
Regulation of TP53 Activity through Phosphorylation
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Initiation And Promoter Clearance


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:0000027 Azoospermia 
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 HP:0000837 Elevated gonadotropins 
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 HP:0008734 Decreased testicular size 
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 HP:0011961 Non-obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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 HP:0011962 Obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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