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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 sign... See more...
Aliases for TAF13 Gene
Aliases for TAF13 Gene
- TATA-Box Binding Protein Associated Factor 13 2 3 5
- Transcription Initiation Factor TFIID Subunit 13 2 3 4
- TAF13 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 18kDa 2 3
- TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, K, 18kD 2 3
- Transcription Initiation Factor TFIID 18 KDa Subunit 3 4
External Ids for TAF13 Gene
- HGNC: 11546
- Entrez Gene: 6884
- Ensembl: ENSG00000197780
- OMIM: 600774
- UniProtKB: Q15543
Previous HGNC Symbols for TAF13 Gene
- TAF2K
Previous GeneCards Identifiers for TAF13 Gene
- GC01M110076
- GC01M9C0097
- GC01U900282
- GC00M9T0035
- GC01M109318
- GC01M109406
- GC01M109605
- GC01M107499
Summaries for TAF13 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 a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008]
GeneCards Summary for TAF13 Gene
TAF13 (TATA-Box Binding Protein Associated Factor 13) is a Protein Coding gene. Diseases associated with TAF13 include Mental Retardation, Autosomal Recessive 60 and Primary Autosomal Recessive Microcephaly. Among its related pathways are Regulation of TP53 Activity and RNA Polymerase II Transcription Initiation And Promoter Clearance. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein C-terminus binding. An important paralog of this gene is SUPT3H.
UniProtKB/Swiss-Prot Summary for TAF13 Gene
-
Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells.
Additional gene information for TAF13 Gene
- Monarch Initiative
- Search for TAF13 at DataMed
- Search for TAF13 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TAF13 Gene
Genomics for TAF13 Gene
GeneHancer (GH) Regulatory Elements for TAF13 Gene
Promoters and enhancers for TAF13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TAF13 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TAF13 gene promoter:
-
- C/EBPbeta
- COUP
- COUP-TF
- COUP-TF1
- E2F
- E2F-1
- HNF-4alpha1
- HNF-4alpha2
- SRY
- TBP
Genomic Locations for TAF13 Gene
Genomic Locations for TAF13 Gene
- chr1:109,062,486-109,076,002
- (GRCh38/hg38)
- Size:
- 13,517 bases
- Orientation:
- Minus strand
- chr1:109,605,108-109,618,624
- (GRCh37/hg19)
- Size:
- 13,517 bases
- Orientation:
- Minus strand
Genomic View for TAF13 Gene
Genes around TAF13 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p13.3 by HGNC
- 1p13.3 by Entrez Gene
- 1p13.3 by Ensembl
TAF13 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TAF13 Gene
Proteins for TAF13 Gene
-
Protein details for TAF13 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15543-TAF13_HUMAN
- Recommended name:
- Transcription initiation factor TFIID subunit 13
- Protein Accession:
- Q15543
- B2R5E5
- Q5TYV6
Protein attributes for TAF13 Gene
- Size:
- 124 amino acids
- Molecular mass:
- 14287 Da
- Quaternary structure:
-
- TFIID is composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). Interacts with TBP, and more strongly with TAF10 and TAF11.
Protein Expression for TAF13 Gene
Post-translational modifications for TAF13 Gene
Other Protein References for TAF13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-TAF13 Antibody
- Creative Biolabs Recombinant Mouse anti-Human TAF13 Monoclonal antibody (405D3b)
- Novus Biologicals Antibodies for TAF13
-
Abcam antibodies for TAF13
- Invitrogen Antibodies for TAF13 (AFLGC-TAF13)
-
Boster Bio Antibodies for TAF13
-
Santa Cruz Biotechnology (SCBT) Antibodies for TAF13
Protein Products
- Atlas Antibodies PrEST Antigen TAF13
- Creative Biomart Recombinant Human TAF13 293 Cell Lysate and Recombinant Human TAF13 protein, His & T7-tagged
-
OriGene Purified Proteins for TAF13
- Search Origene for MassSpec and Protein Over-expression Lysates for TAF13
- Origene Custom Protein Services for TAF13
- antibodies-online: Show 10 available TAF13 Proteins ranked by validation data
- Compare Top TAF13 Proteins
-
Quality Products:
-
Abcam proteins for TAF13
Assay Products
- Aviva Systems Biology TAF13 ELISA Kit (Human) (OKCD01823)
- antibodies-online: Show 20 available TAF13 Elisa Kits ranked by validation data
- Compare Top TAF13 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for TAF13 Gene
Domains & Families for TAF13 Gene
Gene Families for TAF13 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for TAF13 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TAF13 Gene
- GenScript: Design optimal peptide antigens:
-
- TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa (Q0VA92_HUMAN)
- Transcription initiation factor TFIID 18 kDa subunit (TAF13_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q15543UniProtKB/Swiss-Prot:
TAF13_HUMAN :- The binding of TAF10 and TAF11 requires distinct domains of TAF13.
- Belongs to the TAF13 family.
- Domain:
-
- The binding of TAF10 and TAF11 requires distinct domains of TAF13.
- Family:
-
- Belongs to the TAF13 family.
Function for TAF13 Gene
Molecular function for TAF13 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IBA | 21873635 |
| GO:0003700 | DNA-binding transcription factor activity | NAS | 9695952 |
| GO:0003712 | transcription coregulator activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 7729427 |
| GO:0008022 | protein C-terminus binding | IPI | 7729427 |
Phenotypes for TAF13 Gene
- MGI mutant phenotypes for TAF13:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TAF13:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for TAF13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TAF13
- genomics-online: gRNA clones - Search for available TAF13 gRNA products
- Overview of 101 available TAF13 gene related products
- Applied Biological Materials (abm): CRISPR Clones for TAF13 - Select products 50% OFF >
- * TAF13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TAF13 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for TAF13
miRNA for TAF13 Gene
- miRTarBase miRNAs that target TAF13
-
- hsa-mir-4465 (MIRT466686)
- hsa-mir-26b-5p (MIRT466687)
- hsa-mir-26a-5p (MIRT466688)
- hsa-mir-1297 (MIRT466689)
- hsa-mir-5697 (MIRT466690)
- hsa-mir-5579-5p (MIRT466691)
- hsa-mir-5590-3p (MIRT466692)
- hsa-mir-142-5p (MIRT466693)
- hsa-mir-940 (MIRT466694)
- hsa-mir-6893-5p (MIRT466695)
- hsa-mir-6808-5p (MIRT466696)
- hsa-mir-4482-5p (MIRT466697)
- hsa-mir-3130-5p (MIRT466698)
- hsa-mir-4760-3p (MIRT466699)
- hsa-mir-1277-5p (MIRT466700)
- hsa-mir-3714 (MIRT466701)
- hsa-mir-4484 (MIRT466702)
- hsa-mir-6768-3p (MIRT466703)
- hsa-mir-548an (MIRT466704)
- hsa-mir-548as-3p (MIRT466705)
- hsa-mir-340-5p (MIRT466706)
- hsa-mir-6792-5p (MIRT553765)
- hsa-mir-5689 (MIRT553766)
- hsa-mir-107 (MIRT553767)
- hsa-mir-103a-3p (MIRT553768)
- hsa-mir-6838-5p (MIRT553769)
- hsa-mir-96-3p (MIRT553770)
- hsa-mir-497-5p (MIRT553771)
- hsa-mir-424-5p (MIRT553772)
- hsa-mir-195-5p (MIRT553773)
- hsa-mir-16-5p (MIRT553774)
- hsa-mir-15b-5p (MIRT553775)
- hsa-mir-5694 (MIRT553776)
- hsa-mir-15a-5p (MIRT553777)
- hsa-mir-383-5p (MIRT553778)
- hsa-mir-548at-5p (MIRT553779)
- hsa-mir-548ay-3p (MIRT553780)
- hsa-mir-548at-3p (MIRT553781)
- hsa-mir-548t-3p (MIRT553782)
- hsa-mir-548ap-3p (MIRT553783)
- hsa-mir-548aa (MIRT553784)
- hsa-mir-6720-5p (MIRT621890)
- hsa-mir-6512-3p (MIRT621891)
- hsa-mir-921 (MIRT621892)
- hsa-mir-4763-5p (MIRT621893)
- hsa-mir-5189-3p (MIRT621894)
- hsa-mir-766-3p (MIRT621895)
- hsa-mir-6727-3p (MIRT621896)
- hsa-mir-4722-3p (MIRT621897)
- hsa-mir-6849-3p (MIRT621898)
- hsa-mir-3174 (MIRT621899)
- hsa-mir-596 (MIRT621900)
- hsa-mir-508-5p (MIRT621901)
- hsa-mir-7703 (MIRT638199)
- hsa-mir-4252 (MIRT638200)
- hsa-mir-4793-3p (MIRT638201)
- hsa-mir-1273g-3p (MIRT638202)
- hsa-mir-101-3p (MIRT761079)
- hsa-mir-139-5p (MIRT762613)
- hsa-mir-144-3p (MIRT762714)
- hsa-mir-3613-3p (MIRT766004)
- hsa-mir-4668-5p (MIRT770868)
- hsa-mir-548v (MIRT774551)
- hsa-mir-7705 (MIRT782094)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TAF13
- Browse OriGene Inhibitory RNA Products For TAF13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF13
- genomics-online: shRNA clones - Search for available TAF13 shRNA products
- Overview of 101 available TAF13 gene related products
Clone Products
- Sino Biological Human cDNA Clone for TAF13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TAF13
- genomics-online: cdna clones - Search for available TAF13 CDNA products
- Overview of 101 available TAF13 gene related products
- orf clones - Search for available TAF13 ORF products
- Overview of 101 available TAF13 gene related products
- Applied Biological Materials (abm): Clones for TAF13 - Select products 50% OFF >
- * TAF13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * TAF13 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for TAF13
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for TAF13 Gene
Localization for TAF13 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TAF13 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 0 |
- Nucleoli (4)
- Nucleus (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005669 | transcription factor TFIID complex | NAS | 9695952 |
| GO:0005730 | nucleolus | IDA | -- |
Pathways & Interactions for TAF13 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RNA Polymerase II Transcription Initiation And Promoter Clearance |
Assembly of RNA Polymerase-II Initiation Complex
.91
Transcription of mRNA
.91
|
Protein Acetylation and Deacetylation
.51
Crosstalk Between CARM1 and ESRs
.39
|
| 2 | HIV Life Cycle |
.91
.64
|
.45
|
| 3 | Tat-mediated elongation of the HIV-1 transcript | ||
| 4 | Regulation of TP53 Activity | ||
| 5 | Gene Expression |
.48
|
|
Pathways by source for TAF13 Gene
1 BioSystems pathway for TAF13 Gene
20 Reactome pathways for TAF13 Gene
1 KEGG pathway for TAF13 Gene
1 GeneGo (Thomson Reuters) pathway for TAF13 Gene
7 Qiagen pathways for TAF13 Gene
- Assembly of RNA Polymerase-II Initiation Complex
- Crosstalk Between CARM1 and ESRs
- Estrogen Pathway
- Glucocorticoid Receptor Signaling
- Nuclear Receptor Activation by Vitamin-A
Interacting Proteins for TAF13 Gene
Selected Interacting proteins:
Q15543-TAF13_HUMAN
ENSP00000355051
for TAF13 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TAF13
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006352 | DNA-templated transcription, initiation | NAS | 9695952 |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0006366 | transcription by RNA polymerase II | TAS | -- |
| GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
| GO:0042795 | snRNA transcription by RNA polymerase II | TAS | -- |
No data available for SIGNOR curated interactions for TAF13 Gene
Drugs & Compounds for TAF13 Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen TAF13
- Creative Biomart Recombinant Human TAF13 293 Cell Lysate and Recombinant Human TAF13 protein, His & T7-tagged
Transcripts for TAF13 Gene
mRNA/cDNA for TAF13 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (73) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000338366 813 bps (ENST00000338366.5)
- ENST00000461096 1076 bps (ENST00000461096.6)
CRISPR Products
-
OriGene CRISPR knockouts for TAF13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TAF13
- genomics-online: gRNA clones - Search for available TAF13 gRNA products
- Overview of 101 available TAF13 gene related products
- Applied Biological Materials (abm): CRISPR Clones for TAF13 - Select products 50% OFF >
- * TAF13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TAF13 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for TAF13
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TAF13
- Browse OriGene Inhibitory RNA Products For TAF13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF13
- genomics-online: shRNA clones - Search for available TAF13 shRNA products
- Overview of 101 available TAF13 gene related products
Clone Products
- Sino Biological Human cDNA Clone for TAF13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TAF13
- genomics-online: cdna clones - Search for available TAF13 CDNA products
- Overview of 101 available TAF13 gene related products
- orf clones - Search for available TAF13 ORF products
- Overview of 101 available TAF13 gene related products
- Applied Biological Materials (abm): Clones for TAF13 - Select products 50% OFF >
- * TAF13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * TAF13 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for TAF13 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
This gene is overexpressed in Fetal Brain (39.3) and Placenta (29.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TAF13 Gene
NURSA nuclear receptor signaling pathways regulating expression of TAF13 Gene:
TAF13SOURCE GeneReport for Unigene cluster for TAF13 Gene:
Hs.632426Evidence on tissue expression from TISSUES for TAF13 Gene
- Nervous system(4.4)
- Liver(2)
Primer Products
-
OriGene qPCR primer pairs for TAF13
- genomics-online: primer clones - Search for available TAF13 Primer products
- Overview of 101 available TAF13 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TAF13 Gene
Orthologs for TAF13 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TAF13 33 32 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TAF13 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TAF13 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TAF13 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Taf13 17 33 32 |
|
||
| chicken (Gallus gallus) |
Aves | TAF13 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TAF13 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | taf13 32 |
|
||
| Str.6597 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4615 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | taf13 33 32 |
|
OneToOne | |
| wufc20d03 32 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1879 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Taf13 33 34 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008045 32 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | taf-13 33 32 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TAF13 35 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | TAF13 32 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5080 33 |
|
OneToOne | |
| Cin.4198 32 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4198 32 |
|
- Species where no ortholog for TAF13 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)
- platypus (Ornithorhynchus anatinus)
- rat (Rattus norvegicus)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for TAF13 Gene
- ENSEMBL:
- Gene Tree for TAF13 (if available)
- TreeFam:
- Gene Tree for TAF13 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TAF13: view image
Paralogs for TAF13 Gene
(1) SIMAP similar genes for TAF13 Gene using alignment to 2 proteins:
- TAF13_HUMAN
- Q0VA92_HUMAN
Pseudogenes.org Pseudogenes for TAF13 Gene
Variants for TAF13 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1060505029 | pathogenic, Mental retardation, autosomal recessive 60, not provided, Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432] | 109,066,220(-) | A/T | coding_sequence_variant, missense_variant | |
| rs1060505030 | pathogenic, Mental retardation, autosomal recessive 60, not provided, Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432] | 109,075,001(-) | A/G/T | coding_sequence_variant, missense_variant | |
| rs1000070937 | -- | 109,076,050(-) | C/A/T | upstream_transcript_variant | |
| rs1000108754 | -- | 109,065,688(-) | C/A/G/T | intron_variant | |
| rs1000121332 | -- | 109,075,839(-) | G/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2669667 | CNV | deletion | 23128226 |
| esv2715973 | CNV | deletion | 23290073 |
| esv2715984 | CNV | deletion | 23290073 |
| esv3587147 | CNV | loss | 21293372 |
| esv3894001 | CNV | gain | 25118596 |
| nsv1078062 | CNV | deletion | 25765185 |
| nsv1119707 | CNV | deletion | 24896259 |
| nsv831026 | CNV | loss | 17160897 |
| nsv954947 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.11;
2.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TAF13 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAF13 Gene
Disorders for TAF13 Gene
(3) MalaCards diseases for TAF13 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal recessive 60 |
|
|
| primary autosomal recessive microcephaly |
|
|
| epidermodysplasia verruciformis 1 |
|
|
Search TAF13 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TAF13_HUMAN- Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly. MRT60 inheritance is autosomal recessive. {ECO:0000269 PubMed:28257693}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TAF13
No data available for Genatlas for TAF13 Gene
Publications for TAF13 Gene
- Cloning and characterization of hTAFII18, hTAFII20 and hTAFII28: three subunits of the human transcription factor TFIID. (PMID: 7729427) Mengus G … Davidson I (The EMBO journal 1995) 2 3 4 56
- Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. (PMID: 28257693) Tawamie H … Abou Jamra R (American journal of human genetics 2017) 3 4 56
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
- 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 56
- Human TAF(II)28 and TAF(II)18 interact through a histone fold encoded by atypical evolutionary conserved motifs also found in the SPT3 family. (PMID: 9695952) Birck C … Moras D (Cell 1998) 3 4 56
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