TFAM (GeneID: 7019) | Homo sapiens
Description: transcription factor A, mitochondrial [Source:HGNC Symbol;Acc:HGNC:11741]
Synonyms: TCF6L3, MTTFA, CF6L2, TCF6L1, MTTF1, TCF6, MTDPS15
Other ID(s): HGNC:11741, ENSG00000108064
Protein Accession Numbers: NP_003192, ENST00000487519, NP_001257711, ENST00000395377, ENST00000487519.1, ENST00000373895
Statistics: ClinVar(4) gnomAD(184) COSMIC(93) PTM(26)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000373895 You are here now! ENST00000395377 ENST00000487519 NP_001257711 You are here now! NP_003192


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00505 HMG_box HMG (high mobility group) box 50-118 CL0114 HMG-box Homo sapiens
PF09011 HMG_box_2 HMG-box domain 152-219 CL0114 HMG-box Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.565 0.655
Bowen's Disease Neoplasms ; 0.565 0.655
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.565 0.655
Secondary Parkinson Disease Nervous System Diseases ; 0.565 0.655
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.565 0.655
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.565 0.655
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.565 0.655
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.565 0.655
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.565 0.655
Parkinson Disease, Secondary Vascular Nervous System Diseases ; 0.565 0.655
Atherosclerotic Parkinsonism Nervous System Diseases ; 0.565 0.655
Ceroid lipofuscinosis, neuronal 1, infantile Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.565 0.655
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) N/A 0.565 0.655
NO RESULT FOUND
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