TAF13 (TATA-box binding protein associated factor 13)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6884
Gene name Gene Name - the full gene name approved by the HGNC.
TATA-box binding protein associated factor 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TAF13
Synonyms (NCBI Gene) Gene synonyms aliases
MRT60, TAF(II)18, TAF2K, TAFII-18, TAFII18
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.3
Summary Summary of gene provided in NCBI Entrez 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,
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs1060505029 A>T Pathogenic Missense variant, coding sequence variant
rs1060505030 A>G,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(270)
miRTarBase ID miRNA Experiments Reference
MIRT621901 hsa-miR-508-5p HITS-CLIP 23824327
MIRT621900 hsa-miR-596 HITS-CLIP 23824327
MIRT638202 hsa-miR-1273g-3p HITS-CLIP 23824327
MIRT621898 hsa-miR-6849-3p HITS-CLIP 23824327
MIRT621897 hsa-miR-4722-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 7729427, 9695952, 11438666, 25416956, 31515488, 32296183
GO:0005634 Component Nucleus EXP 23332750
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600774 11546 ENSG00000197780
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q15543
Protein name Transcription initiation factor TFIID subunit 13 (Transcription initiation factor TFIID 18 kDa subunit) (TAF(II)18) (TAFII-18) (TAFII18)
Protein function The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473, PubMed:9695952). TFIID recognizes and binds promoters via its subunit TBP, a TATA-box-bindi
PDB 1BH8 , 1BH9 , 6MZD , 6MZL , 7EDX , 7EG7 , 7EG8 , 7EG9 , 7EGA , 7EGB , 7EGC , 7EGD , 7EGE , 7EGF , 7EGI , 7EGJ , 7ENA , 7ENC , 8GXQ , 8GXS , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02269 TFIID-18kDa 30 → 119 Transcription initiation factor IID, 18kD subunit Domain
Sequence
Sequence length 124
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Basal transcription factors   RNA Polymerase II Pre-transcription Events
Regulation of TP53 Activity through Phosphorylation
RNA polymerase II transcribes snRNA genes
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 60 rs1060505029, rs1060505030 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly autosomal recessive primary microcephaly N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Ovarian Epithelial Associate 33173439
Intellectual Disability Associate 28257693
Microcephaly Associate 28257693
Neuroblastoma Associate 18538002, 28257693