TAF13 (TATA-box binding protein associated factor 13)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6884
Gene name TATA-box binding protein associated factor 13
Gene symbol TAF13
Synonyms (NCBI Gene)
MRT60TAF(II)18TAF2KTAFII-18TAFII18
Chromosome 1
Chromosome location 1p13.3
Summary 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.
2
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.
270
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600774 11546 ENSG00000197780
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability, autosomal recessive 60 Likely pathogenic; Pathogenic rs2102105455, rs1060505029, rs1060505030 RCV001725877
RCV000477746
RCV000477696
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY — Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Primary Microcephaly Microcephaly ORPHANET_DG 28257693
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly Microcephaly Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 33173439 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital microcephaly Congenital Microcephaly CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 28257693
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 28257693 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 Mental retardation UNIPROT_DG 28257693
★★★★★
★☆☆☆☆
Found in Text Mining only