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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TFAM Gene

protein-coding   GIFtS: 60
GCID: GC10P060146

transcription factor A, mitochondrial


(Previous symbols: TCF6, TCF6L2)
 Explore 32 diseases affiliated with
TFAM via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TFAM    

Aliases
for TFAM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transcription Factor A, Mitochondrial1 2     Mitochondrial Transcription Factor A2
TCF61 2 3 5     Transcription Factor 6-Like 12
TCF6L21 2 3 5     Transcription Factor 6-Like 2 (Mitochondrial Transcription Factor)2
Mitochondrial Transcription Factor 12 3     Transcription Factor 6-Like 32
Transcription Factor 62 3     MtTF13
MTTF12 5     TCF-63
TCF6L12 5     MtTFA1
TCF6L32 5     Transcription Factor 6-Like 23
MTTFA2     

External Ids:    HGNC: 117411   Entrez Gene: 70192   Ensembl: ENSG000001080647   OMIM: 6004385   UniProtKB: Q000593   

Export aliases for TFAM gene to outside databases

Previous GC identifers: GC10P058940 GC10P059170 GC10P060037 GC10P059490 GC10P059491 GC10P059815 GC10P054134


Summaries
for TFAM gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TFAM:
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 Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2012)

UniProtKB/Swiss-Prot: TFAM_HUMAN, Q00059
Function: Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation.
Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase. Promotes transcription
initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites.
Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes.
Required for maintenance of normal levels of mitochondrial DNA. May play a role in organizing and compacting
mitochondrial DNA

Gene Wiki entry for TFAM


Genomic Views
for TFAM gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TFAM gene promoter:
         AhR   Sp1   Arnt   C/EBPalpha   CHOP-10   IRF-2   POU2F1   FOXC1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TFAM promoter sequence
   Search SABiosciences Chromatin IP Primers for TFAM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TFAM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q21   Ensembl cytogenetic band:  10q21.1   HGNC cytogenetic band: 10q21

TFAM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFAM gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P060146:  view genomic region     (about GC identifiers)

Start:
 60,144,782 bp from pter      End:
 60,158,981 bp from pter
Size:
 14,200 bases      Orientation:
 plus strand

Proteins
for TFAM gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TFAM_HUMAN, Q00059 (See protein sequence)
Recommended Name: Transcription factor A, mitochondrial precursor  
Size: 246 amino acids; 29097 Da
Subunit: Monomer; binds DNA as a monomer. Interacts with TFB1M and TFB2M
Subcellular location: Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid
3 PDB 3D structures from and Proteopedia for TFAM:
3FGH (3D)        3TMM (3D)        3TQ6 (3D)    
Secondary accessions: A9QXC6 B5BU05 Q5U0C6

Explore the universe of human proteins at neXtProt for TFAM: NX_Q00059

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q00059

    • TFAM Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001257711.1  NP_003192.1  

    ENSEMBL proteins: 
     ENSP00000420588   ENSP00000363002   ENSP00000378776  
    Reactome Protein details: Q00059
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: TFAM
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    Novus Biologicals TFAM Proteins
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    ProSpec Recombinant Protein for TFAM
    Uscn Proteins for TFAM

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0042645mitochondrial nucleoid IDA18063578


    TFAM for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TFAM

    Protein Domains /
    Families
    for TFAM gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TFAM for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009071 HMG_superfamily

    Graphical View of Domain Structure for InterPro Entry Q00059

    ProtoNet protein and cluster: Q00059

    UniProtKB/Swiss-Prot: TFAM_HUMAN, Q00059
    Domain: Binds DNA via its HMG boxes. When bound to the mitochondrial light strand promoter, bends DNA into a U-turn
    shape, each HMG box bending the DNA by 90 degrees
    Similarity: Contains 2 HMG box DNA-binding domains


    Function
    for TFAM gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TFAM_HUMAN, Q00059
    Function: Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation.
    Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase. Promotes transcription
    initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites.
    Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes.
    Required for maintenance of normal levels of mitochondrial DNA. May play a role in organizing and compacting
    mitochondrial DNA

         Genatlas biochemistry entry for TFAM:
    transcription factor A,mitochondrial

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFAM
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TFAM (see all 14):
    hsa-miR-222* hsa-miR-199b-3p hsa-miR-769-5p hsa-miR-586 hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-548m hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmid: TFAM 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFAM (see all 7)
    OriGene shRNA RFP: TFAM
    OriGene siRNA: TFAM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFAM

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFAM 

    Cell Line
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    Search LifeMap BioReagents cell lines for TFAM

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IDA18063578
    GO:0003700sequence-specific DNA binding transcription factor activity IMP--
    GO:0005515protein binding IPI12897151
    GO:0008301DNA binding, bending IDA--


    TFAM for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Tfamtm1.1Lrsn for TFAM
         11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tfam):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     vision/eye 

    TFAM for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TFAM gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription from mitochondrial promoters
    		Transcription from mitochondrial promoters1.00
    		Mitochondrial transcription initiation0.75
    2Human Embryonic Stem Cell Pluripotency
    		Human Embryonic Stem Cell Pluripotency1.00
    		Factors Promoting Cardiogenesis in Vertebrates0.50
    3Rho Family GTPases
    		MAPK Signaling0.51
    		ILK Signaling0.45
    4Neuroscience
    		Neuroscience1.00
    5Chromatin Regulation / Acetylation
    		Chromatin Regulation / Acetylation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/8 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TFAM (see all 8)
        MAPK Signaling
    ILK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    PGC1Alpha Pathway
    Human Embryonic Stem Cell Pluripotency

    2 Cell Signaling Technology (CST) Pathways for TFAM
        Chromatin Regulation / Acetylation
    Neuroscience

    2 BioSystems Pathways for TFAM 
        Mitochondrial Gene Expression
    Energy Metabolism

    5        Reactome Pathways for TFAM
        Transcription from mitochondrial promoters
    Transcription
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription
    Gene Expression
    Mitochondrial transcription initiation


    1         Kegg Pathway  (Kegg details for TFAM):
        Huntington's disease


    TFAM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TFAM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/249 Interacting proteins for TFAM (Q000591, 2, 3 ENSP000004205884) via UniProtKB, MINT, STRING, and/or I2D (see all 249)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFB1MQ8WVM01, 2, 3, ENSP000003561344EBI-1049924,EBI-2615570 MINT-8079030 I2D: score=3 STRING: ENSP00000356134
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    TFB2MQ9H5Q43, ENSP000003554714I2D: score=3 STRING: ENSP00000355471
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    POLRMTO004112, ENSP000002155914MINT-8079030 STRING: ENSP00000215591
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006261DNA-dependent DNA replication TAS8333869
    GO:0006356regulation of transcription from RNA polymerase I promoter TAS8333869
    GO:0006390transcription from mitochondrial promoter TAS--
    GO:0006391transcription initiation from mitochondrial promoter TAS--
    GO:0010467gene expression TAS--


    TFAM for ontologies           About GeneDecksing



    Drugs & Compounds
    for TFAM gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TFAM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TFAM
    10/14 Novoseek chemical compound relationships for TFAM gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrate 49.8 6 20100740 (1), 16807301 (1), 17327447 (1), 11692267 (1)
    atp 49.4 7 12803480 (1), 11167019 (1), 11181630 (1), 19496804 (1) (see all 6)
    aicar 48.4 2 16380484 (1), 15294043 (1)
    diethyl dithiocarbamate 38.3 4 7849699 (1), 18206854 (1)
    oxygen 34.2 2 19496804 (1), 19925850 (1)
    nadh 17.7 2 12198131 (1), 20107110 (1)
    glucose 9.92 3 18000087 (1), 11733104 (1), 11955630 (1)
    pyruvate 2.44 1 7849699 (1)
    lactate 1.33 1 11934266 (1)
    calcium 0 4 12665481 (2), 16210000 (1), 15965058 (1)

    Search CenterWatch for drugs/clinical trials and news about TFAM 

    Transcripts
    for TFAM gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TFAM gene (3 alternative transcripts): 
    NM_001270782.1  NM_003201.2  NM_012251.1  

    Unigene Cluster for TFAM:

    Transcription factor A, mitochondrial
    Hs.594250  [show with all ESTs]
    Unigene Representative Sequence: NR_073073
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487519(uc001jkf.3 uc001jkg.3) ENST00000373899 ENST00000373895
    ENST00000395377

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFAM
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TFAM (see all 14):
    hsa-miR-222* hsa-miR-199b-3p hsa-miR-769-5p hsa-miR-586 hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-548m hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmid: TFAM 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB451241.1 AB451366.1 AK312558.1 BC018628.1 BC029815.1 BC104482.1 BC126366.1 BT019658.1 
    BT019659.1 CR407653.1 EU279428.1 M62810.1 NR_073073.1 

    10 DOTS entries:

    DT.216228  DT.310513  DT.100651006  DT.91788791  DT.100651007  DT.100863222  DT.121265659  DT.423031 
    DT.95102053  DT.310514 

    24/291 AceView cDNA sequences (see all 291):

    BQ574138 BC018628 CB138822 BQ423888 BU193716 AI092542 AA460575 C05173 
    W93826 AA449118 BM977931 AI921516 BX456870 M62810 CR592676 AW269796 
    F01431 T15871 BM727752 AI694296 CN478914 BM459984 F30466 BQ022239 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TFAM    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                -                                             
    SP2:                                -                 -     -                     
    SP3:                          -     -                                             
    SP4:                                                                              


    ECgene alternative splicing isoforms for TFAM

    Expression
    for TFAM gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TFAM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATATTTAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See TFAM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TFAM

    SOURCE GeneReport for Unigene cluster: Hs.594250
        SABiosciences Custom PCR Arrays for TFAM
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFAM

    Orthologs
    for TFAM gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TFAM gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tfam1 , 5 transcription factor A, mitochondrial1, 5 73.31(n)1
    63.56(a)1    		   10 (36.83 cM)5
    217801  NM_009360.41  NP_033386.11 
     712254645 
    chicken
    (Gallus gallus)    		 Aves TFAM1 transcription factor A, mitochondrial 55.46(n)
    43.4(a)    		   373888  NM_204100.1  NP_989431.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TFAM6
    		 --
    		 40(a)
    		 1 ↔ 1
    		 GL343378.1(49898-60142)
    zebrafish
    (Danio rerio)    		 Actinopterygii tfam1 transcription factor A, mitochondrial 54.35(n)
    45.32(a)    		   571106  NM_001077389.1  NP_001070857.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta TFAM1 mitochondrial transcription factor A 44.63(n)
    36.11(a)    		   42433  NM_079691.2  NP_524415.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea hmg-56
    		 HMG family member (hmg-5)
    		 24(a)
    		 1 ↔ 1
    		 IV(7644879-7646211)


    ENSEMBL Gene Tree for TFAM (if available)
    TreeFam Gene Tree for TFAM (if available) 

    Paralogs
    for TFAM gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TFAM gene
    1 SIMAP similar gene for TFAM using alignment to 8 protein entries:     TFAM_HUMAN (see all proteins):
    SMARCE1

    TFAM for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TFAM
    PGOHUM00000242476 PGOHUM00000233097


    Genomic Variants
    for TFAM gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/270 NCBI SNPs in TFAM are shown (see all 270)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1497406881,2
    		--60142977(+) ACAAAC/TTGGGG 3 -- us2k10--------
    rs110061271,2
    		C,F,H,--60143021(+) TACTGG/TCCTGA 3 -- us2k122Minor allele frequency- T:0.13NS EA NA WA 2766
    rs777459391,2
    		F,--60143049(+) GGGACT/CAGAGA 3 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1478307481,2
    		--60143069(+) ACATAC/TTAGAG 3 -- us2k10--------
    rs1413078591,2
    		--60143250(+) ATTTTC/GTTCAG 3 -- us2k10--------
    rs732883911,2
    		C,F,--60143276(+) AAGTAC/TTTGTG 3 -- us2k13Minor allele frequency- T:0.08WA CSA 122
    rs1469620581,2
    		--60143319(+) GGTTAC/TGTGGA 3 -- us2k10--------
    rs1475785281,2
    		--60143348(+) GGACTC/GGGTTC 3 -- us2k10--------
    rs764638961,2
    		F,--60143508(+) TGGATA/GAAGTT 3 -- us2k11Minor allele frequency- G:0.06WA 118
    rs177109001,2
    		C,F,--60144022(+) AGAAGT/CAGGCT 3 -- us2k15Minor allele frequency- C:0.01NA 146

    HapMap Linkage Disequilibrium report for TFAM (60144782 - 60158981 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TFAM: --
    Human Gene Mutation Database (HGMD): TFAM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TFAM
    DNA2.0 Custom Variant and Variant Library Synthesis for TFAM

    Disorders / Diseases
    for TFAM gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TFAM for disorders           About GeneDecksing

    OMIM gene information: 600438    OMIM disorders: --

    20/32 diseases for TFAM (see all 32):    About MalaCards
    autosomal dominant progressive external ophthalmoplegia    parkinson's disease    focal segmental glomerulosclerosis    mitochondrial encephalomyopathy
    dilated cardiomyopathy    insulin resistance    ophthalmoplegia    encephalomyopathy
    giant cell hepatitis    papillary thyroid carcinoma    glomerulosclerosis    nephrosis
    myocardial infarction    myopathy    squamous cell carcinoma    cardiomyopathy
    diabetes mellitus    thyroid carcinoma    down syndrome    huntington's disease

    2 diseases from the University of Copenhagen DISEASES database for TFAM:
    Mitochondrial myopathy     Skin carcinoma in situ

    9 Novoseek disease relationships for TFAM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    respiratory chain deficiency 67.5 3 11259653 (1)
    mitochondrial diseases 46.2 1 11213524 (1)
    mitochondrial myopathies 29 2 8185589 (1)
    myopathy 20.6 1 12428064 (1)
    insulin resistance 20 1 20202876 (1)
    parkinson disease 13.3 3 17537576 (1), 19925850 (1), 18248889 (1)
    dilated cardiomyopathy 11.4 1 19096125 (1)
    tumors 0 7 12198131 (2), 14550271 (1), 19755502 (1), 12964965 (1) (see all 5)
    obesity 0 2 20200320 (1), 19056573 (1)

    Genetic Association Database (GAD): TFAM
    Human Genome Epidemiology (HuGE) Navigator: TFAM (25 documents)

    Export disorders for TFAM gene to outside databases

    Publications
    for TFAM gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TFAM gene, integrated from 9 sources (see all 233):
    (articles sorted by number of sources associating them with TFAM)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural analysis and DNA binding of the HMG domain s of the human mitochondrial transcription factor A. (PubMed id 19304746)1, 2, 9 Gangelhoff T.A....Churchill M.E. (2009)
    2. Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease. (PubMed id 15464268)1, 4, 9 Gunther C....Finckh U. (2004)
    3. Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. (PubMed id 7789991)1, 3, 9 Tiranti V.... Zeviani M. (1995)
    4. Human mitochondrial transcription factor A induces a U-turn structure in the light strand promoter. (PubMed id 22037172)1, 2 Rubio-Cosials A....SolA M. (2011)
    5. The mitochondrial transcription and packaging factor Tfam imposes a U-turn on mitochondrial DNA. (PubMed id 22037171)1, 2 Ngo H.B....Chan D.C. (2011)
    6. Human mitochondrial transcription revisited: only TFA M and TFB2M are required for transcription of the mitochondrial genes in vitro. (PubMed id 20410300)1, 2 Litonin D....Temiakov D. (2010)
    7. The layered structure of human mitochondrial DNA nucleoids. (PubMed id 18063578)1, 2 Bogenhagen D.F....Burke S. (2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Human mitochondrial transcription factor B1 interacts with the C- terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity. (PubMed id 12897151)1, 2 McCulloch V. and Shadel G.S. (2003)
    10. DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein. (PubMed id 1737790)1, 2 Fisher R.P.... Clayton D.A. (1992)

    External Searches for TFAM gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TFAM gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7019 HGNC: 11741 AceView: TFAM Ensembl:ENSG00000108064 euGenes: HUgn7019
    ECgene: TFAM Kegg: 7019 H-InvDB: TFAM

    Other Databases showing TFAM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TFAM gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TFAM Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TFAM gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TFAM gene:
    Search GeneIP for patents involving TFAM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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     Regulatory tfbs in TFAM promoter
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