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Aliases for TAF2 Gene

Aliases for TAF2 Gene

  • TATA-Box Binding Protein Associated Factor 2 2 3 5
  • TAF2 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 150kDa 2 3
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, B, 150kD 2 3
  • Transcription Initiation Factor TFIID 150 KDa Subunit 3 4
  • RNA Polymerase II TBP-Associated Factor Subunit B 3 4
  • 150 KDa Cofactor Of Initiator Function 3 4
  • TBP-Associated Factor 150 KDa 3 4
  • TAF(II)150 3 4
  • TAFII150 3 4
  • CIF150 3 4
  • TAF2B 3 4
  • Transcription Initiation Factor TFIID Subunit 2 3
  • Cofactor Of Initiator Function, 150kD Subunit 3
  • TAFII-150 4
  • MRT40 3

External Ids for TAF2 Gene

Previous HGNC Symbols for TAF2 Gene

  • TAF2B

Previous GeneCards Identifiers for TAF2 Gene

  • GC08M120749
  • GC08M120411
  • GC08M120699
  • GC08M120812
  • GC08M116063
  • GC08M120743

Summaries for TAF2 Gene

Entrez Gene Summary for TAF2 Gene

  • Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]

GeneCards Summary for TAF2 Gene

TAF2 (TATA-Box Binding Protein Associated Factor 2) is a Protein Coding gene. Diseases associated with TAF2 include Mental Retardation, Autosomal Recessive 40 and Microcephaly. Among its related pathways are Formation of HIV elongation complex in the absence of HIV Tat and HIV Life Cycle. GO annotations related to this gene include binding and metallopeptidase activity.

UniProtKB/Swiss-Prot for TAF2 Gene

  • Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. It requires core promoter-specific cofactors for productive transcription stimulation. TAF2 stabilizes TFIID binding to core promoter.

Gene Wiki entry for TAF2 Gene

Additional gene information for TAF2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAF2 Gene

Genomics for TAF2 Gene

Regulatory Elements for TAF2 Gene

Enhancers for TAF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H119831 1.1 ENCODE 43.3 0.0 -1 2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 TAF2 DSCC1 LOC105375728 RN7SKP153
GH08H120443 1.4 FANTOM5 ENCODE 28 -612.1 -612111 2 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZNF207 TAF2 MTBP MRPL13 SNTB1 PIR54850
GH08H120803 1.2 FANTOM5 Ensembl ENCODE 20.1 -970.8 -970838 1 MAX YBX1 ZKSCAN1 NONO ZNF366 ZNF512 NBN MAFK HES1 MYC TAF2 SNTB1 ENSG00000272502 LOC101927543
GH08H119176 0.8 ENCODE 27.3 +655.1 655086 3 GTF2F1 TBP MXI1 JUN MAX CEBPG RAD21 ZBTB40 RFX5 GTF3C2 TAF2 MAL2 MAL2-AS1
GH08H120082 1.4 Ensembl ENCODE dbSUPER 9.4 -250.8 -250810 3 FOXA2 TBL1XR1 RAD21 RFX5 YY1 FOS DEK ZNF654 HCFC1 CEBPB DEPTOR ENSG00000254343 DSCC1 TAF2 COL14A1 PIR54850
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TAF2 on UCSC Golden Path with GeneCards custom track

Promoters for TAF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000229450 63 1601 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 DEK

Genomic Location for TAF2 Gene

Chromosome:
8
Start:
119,730,773 bp from pter
End:
119,832,863 bp from pter
Size:
102,091 bases
Orientation:
Minus strand

Genomic View for TAF2 Gene

Genes around TAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAF2 Gene

Proteins for TAF2 Gene

  • Protein details for TAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1X5-TAF2_HUMAN
    Recommended name:
    Transcription initiation factor TFIID subunit 2
    Protein Accession:
    Q6P1X5
    Secondary Accessions:
    • B2RE82
    • O43487
    • O43604
    • O60668
    • Q86WW7
    • Q8IWK4

    Protein attributes for TAF2 Gene

    Size:
    1199 amino acids
    Molecular mass:
    136971 Da
    Quaternary structure:
    • Component of transcription factor TFIID which is composed of TBP and a number of TBP-associated factors. Interacts with TAF2C1. Component of the TFTC-HAT complex.
    Miscellaneous:
    • PubMed:9418870 was unable to show an association between TAF2 and TFIID.
    SequenceCaution:
    • Sequence=AAC68502.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH64830.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TAF2 Gene

neXtProt entry for TAF2 Gene

Post-translational modifications for TAF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TAF2 Gene

Domains & Families for TAF2 Gene

Gene Families for TAF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TAF2 Gene

Suggested Antigen Peptide Sequences for TAF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P1X5

UniProtKB/Swiss-Prot:

TAF2_HUMAN :
  • Belongs to the TAF2 family.
Family:
  • Belongs to the TAF2 family.
genes like me logo Genes that share domains with TAF2: view

Function for TAF2 Gene

Molecular function for TAF2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. It requires core promoter-specific cofactors for productive transcription stimulation. TAF2 stabilizes TFIID binding to core promoter.

Phenotypes From GWAS Catalog for TAF2 Gene

Gene Ontology (GO) - Molecular Function for TAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001075 contributes_to transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly IBA --
GO:0001129 RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly IBA --
GO:0003682 chromatin binding IBA --
GO:0005515 protein binding IPI 9418870
GO:0043565 sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with TAF2: view
genes like me logo Genes that share phenotypes with TAF2: view

Human Phenotype Ontology for TAF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TAF2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TAF2 Gene

Localization for TAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAF2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAF2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for TAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005669 colocalizes_with transcription factor TFIID complex IDA 10409744
GO:0033276 transcription factor TFTC complex IDA 10373431
genes like me logo Genes that share ontologies with TAF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TAF2 Gene

Pathways & Interactions for TAF2 Gene

genes like me logo Genes that share pathways with TAF2: view

Gene Ontology (GO) - Biological Process for TAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IMP 10409744
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with TAF2: view

No data available for SIGNOR curated interactions for TAF2 Gene

Drugs & Compounds for TAF2 Gene

No Compound Related Data Available

Transcripts for TAF2 Gene

Unigene Clusters for TAF2 Gene

TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TAF2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TAF2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8:

ExUns: 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b
SP1: - - - - -
SP2: - - -
SP3: -
SP4:
SP5:
SP6:
SP7: - - -
SP8:

Relevant External Links for TAF2 Gene

GeneLoc Exon Structure for
TAF2
ECgene alternative splicing isoforms for
TAF2

Expression for TAF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TAF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TAF2 Gene

This gene is overexpressed in Urine (56.3) and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TAF2 Gene



Protein tissue co-expression partners for TAF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TAF2 Gene:

TAF2

SOURCE GeneReport for Unigene cluster for TAF2 Gene:

Hs.122752

mRNA Expression by UniProt/SwissProt for TAF2 Gene:

Q6P1X5-TAF2_HUMAN
Tissue specificity: Expressed in all tissues tested.

Evidence on tissue expression from TISSUES for TAF2 Gene

  • Intestine(4.2)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TAF2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • skull
Limb:
  • foot
  • lower limb
General:
  • spinal cord
genes like me logo Genes that share expression patterns with TAF2: view

Primer Products

No data available for mRNA differential expression in normal tissues for TAF2 Gene

Orthologs for TAF2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TAF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TAF2 33 34
  • 99.83 (n)
oppossum
(Monodelphis domestica)
Mammalia TAF2 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TAF2 33 34
  • 93.27 (n)
cow
(Bos Taurus)
Mammalia TAF2 33 34
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Taf2 33 16 34
  • 88.65 (n)
rat
(Rattus norvegicus)
Mammalia Taf2 33
  • 88.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAF2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAF2 33 34
  • 82.58 (n)
lizard
(Anolis carolinensis)
Reptilia TAF2 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia taf2 33
  • 78.52 (n)
Str.16985 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32372 33
zebrafish
(Danio rerio)
Actinopterygii taf2 34
  • 82 (a)
OneToOne
wu:fc56a05 33
  • 73.87 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Taf2 35 33 34
  • 53.75 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005731 33
  • 53.39 (n)
worm
(Caenorhabditis elegans)
Secernentea taf-2 35 33 34
  • 45.32 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF2 34
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7615 34
  • 59 (a)
OneToOne
Species where no ortholog for TAF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAF2 Gene

ENSEMBL:
Gene Tree for TAF2 (if available)
TreeFam:
Gene Tree for TAF2 (if available)

Paralogs for TAF2 Gene

No data available for Paralogs for TAF2 Gene

Variants for TAF2 Gene

Sequence variations from dbSNP and Humsavar for TAF2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs398124645 Pathogenic, Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599] 119,783,548(+) CTGCC(A/G)CATAA reference, missense
rs398124655 Uncertain significance, Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599] 119,793,396(-) ACATC(A/C)CATAT intron-variant, reference, missense, utr-variant-5-prime
rs398124656 Uncertain significance, Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599] 119,803,881(-) TTCTA(C/G)AAGGT intron-variant, reference, missense, utr-variant-5-prime
rs1000044138 -- 119,805,871(+) AATTT(C/T)GACAT intron-variant
rs1000087373 -- 119,743,586(+) TATAA(A/G)CTGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TAF2 Gene

Variant ID Type Subtype PubMed ID
esv2310118 CNV deletion 18987734
esv2485427 CNV deletion 19546169
esv25627 CNV loss 19812545
esv2678251 CNV deletion 23128226
esv3304552 CNV mobile element insertion 20981092
esv3309173 CNV mobile element insertion 20981092
esv3340811 CNV insertion 20981092
esv3403443 CNV insertion 20981092
esv3618604 CNV loss 21293372
nsv510171 OTHER sequence alteration 20534489
nsv612111 CNV gain 21841781

Variation tolerance for TAF2 Gene

Residual Variation Intolerance Score: 9.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.20; 76.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAF2 Gene

Human Gene Mutation Database (HGMD)
TAF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAF2 Gene

Disorders for TAF2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TAF2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 40
  • microcephaly-thin corpus callosum-intellectual disability syndrome
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search TAF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TAF2_HUMAN
  • Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT40 affected individuals also show microcephaly, spasticity, thin corpus callosum, pyramidal signs. {ECO:0000269 PubMed:21937992, ECO:0000269 PubMed:24084144}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TAF2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAF2
genes like me logo Genes that share disorders with TAF2: view

No data available for Genatlas for TAF2 Gene

Publications for TAF2 Gene

  1. Novel cofactors and TFIIA mediate functional core promoter selectivity by the human TAFII150-containing TFIID complex. (PMID: 9774672) Martinez E … Roeder RG (Molecular and cellular biology 1998) 2 3 4 60
  2. CIF150, a human cofactor for transcription factor IID-dependent initiator function. (PMID: 9418870) Kaufmann J … Müller R (Molecular and cellular biology 1998) 2 3 4 60
  3. Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. (PMID: 24084144) Hellman-Aharony S … Basel-Vanagaite L (Pediatric neurology 2013) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for TAF2 Gene

Sources for TAF2 Gene

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