GTF3A (general transcription factor IIIA)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2971
Gene name General transcription factor IIIA
Gene symbol GTF3A
Synonyms (NCBI Gene)
AP2TFIIIA
Chromosome 13
Chromosome location 13q12.2
Summary The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600860 4662 ENSG00000122034
Protein Protein information from UniProt database.
Gene 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.
Q92664
Protein name Transcription factor IIIA (TFIIIA)
Protein function Involved in ribosomal large subunit biogenesis. Binds the approximately 50 base pairs internal control region (ICR) of 5S ribosomal RNA genes. It is required for their RNA polymerase III-dependent transcription and may also maintain the transcri
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 70 → 94 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 100 → 125 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 162 → 186 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 218 → 239 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 246 → 271 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 277 → 301 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence 
MDPPAVVAESVSSLTIADAFIAAGESSAPTPPRPALPRRFICSFPDCSANYSKAWKLDAH
LCKHTGERPFVCDYEGCGKAFIRDYHLSRHILTHTGEKPFVCAANGCDQKFNTKSNLKKH
FERKHENQQKQYICSFEDCKKTFKKHQQLKIHQCQHTNEPLFKCTQEGCGKHFASPSKLK
RHAKAHEGYVCQKGCSFVAKTWTELLKHVRETHKEEILCEVCRKTFKRKDYLKQHMKTHA
PERDVCRCPREGCGRTYTTVFNLQSHILSFHEESRPFVCEHAGCGKTFAMKQSLTRHAVV
HDPDKKKMKLKVKKSREKRSLASHLSGYIPPKRKQGQGLSLCQNGESPNCVEDKMLSTVA
VLTLG
Sequence length 365
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    RNA Polymerase III Transcription Initiation From Type 1 Promoter
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene 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 Unknown Diseases (1)
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
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 20111020
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 20111020
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16108032, 17187826, 9850080
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29955133, 33925358 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common variable immunodeficiency Pubtator 36399538 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 25749183
★★★★★
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 16100769 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hyperinsulinism Hyperinsulinism BEFREE 30670068
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 10190901
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 16108032, 17187826, 9850080
★★★★★
★☆☆☆☆
Found in Text Mining only