Gene Gene information from NCBI Gene database.
Entrez ID 7019
Gene name Transcription factor A, mitochondrial
Gene symbol TFAM
Synonyms (NCBI Gene)
MTDPS15MTTF1MTTFATCF6TCF6L1TCF6L2TCF6L3
Chromosome 10
Chromosome location 10q21.1
Summary 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.
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.
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 Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYC Unknown 15988031
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600438 11741 ENSG00000108064
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
SKEQLPIFKAQNPDAKTTELIRRIAQRWRELPDSKKKIYQDAYRAEWQVYKEEISRFK
EQ
LTPSQIMSLEKEIMDKHLKRKAMTKKKELTLLGKPKRPRSAYNVYVAERFQEAKGDSPQE
KLKTVKENWKNLSDSEKELYIQHAKEDETRYHNEMKSWE
EQMIEVGRKDLLRRTIKKQRK
YGAEEC
Sequence length 246
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Apelin signaling pathway
Huntington disease
  Mitochondrial transcription initiation
Transcriptional activation of mitochondrial biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) Likely pathogenic rs757075712, rs544132101 RCV000256433
RCV003337864
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BOWEN'S DISEASE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 17192785
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 30138574
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 27732955
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23645454
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 25243473
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 18830724, 31081111 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22077634, 26881032 Inhibit
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 17192785
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 17192785
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 18430995, 20977898, 21799244
★☆☆☆☆
Found in Text Mining only