TFAM (transcription factor A, mitochondrial)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7019
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor A, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TFAM
Synonyms (NCBI Gene) Gene synonyms aliases
MTDPS15, MTTF1, MTTFA, TCF6, TCF6L1, TCF6L2, TCF6L3
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer`s and P
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs757075712 C>T Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, downstream transcript variant, missense variant, intron variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(415)
miRTarBase ID miRNA Experiments Reference
MIRT050062 hsa-miR-26a-5p CLASH 23622248
MIRT049528 hsa-miR-92a-3p CLASH 23622248
MIRT049528 hsa-miR-92a-3p CLASH 23622248
MIRT047391 hsa-miR-34a-5p CLASH 23622248
MIRT041703 hsa-miR-484 CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
MYC Unknown 15988031
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0001018 Function Mitochondrial promoter sequence-specific DNA binding IDA 19304746
GO:0001018 Function Mitochondrial promoter sequence-specific DNA binding IEA
GO:0001223 Function Transcription coactivator binding IEA
GO:0001666 Process Response to hypoxia IEA
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600438 11741 ENSG00000108064
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q00059
Protein name Transcription factor A, mitochondrial (mtTFA) (Mitochondrial transcription factor 1) (MtTF1) (Transcription factor 6) (TCF-6) (Transcription factor 6-like 2)
Protein function Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193, PubMed:32183942). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and PO
PDB 3FGH , 3TMM , 3TQ6 , 4NNU , 4NOD , 6ERP , 6ERQ , 6HB4 , 6HC3 , 7LBW , 7LBX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 50 → 118 HMG (high mobility group) box Domain
PF09011 HMG_box_2 152 → 219 HMG-box domain Domain
Sequence 
MAFLRSMWGVLSALGRSGAELCTGCGSRLRSPFSFVYLPRWFSSVLASCPKKPVSSYLRF
SKEQLPIFKAQNPDAKTTELIRRIAQRWRELPDSKKKIYQDAYRAEWQVYKEEISRFKEQ
LTPSQIMSLEKEIMDKHLKRKAMTKKKELTLLGKPKRPRSAYNVYVAERFQEAKGDSPQE
KLKTVKENWKNLSDSEKELYIQHAKEDETRYHNEMKSWEEQMIEVGRKDLLRRTIKKQRK
YGAEEC
Sequence length 246
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Apelin signaling pathway
Huntington disease 		  Mitochondrial transcription initiation
Transcriptional activation of mitochondrial biogenesis
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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 Transcription factors 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
Cardiomyopathic Mitochondrial DNA Depletion Syndrome mitochondrial dna depletion syndrome 15 (hepatocerebral type) rs757075712 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
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (77)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 19496804
Acute Kidney Injury Associate 33494815
Adenocarcinoma of Lung Associate 23645454
Alzheimer Disease Associate 18830724, 31081111
Alzheimer Disease Inhibit 22077634, 26881032
Arthritis Rheumatoid Associate 40035723
Birt Hogg Dube Syndrome Associate 21162720
Bowen's Disease Stimulate 21514422
Brain Diseases Associate 37098490
Breast Neoplasms Associate 23172368, 27746856