AutismKB 2.0

Annotation Details for TFAM


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Basic Information Top
Gene Symbol:TFAM ( MtTF1,TCF6,TCF6L1,TCF6L2,TCF6L3,mtTFA )
Gene Full Name: transcription factor A, mitochondrial
Band: 10q21.1
Quick LinksEntrez ID:7019; OMIM: 600438; Uniprot ID:TFAM_HUMAN; ENSEMBL ID: ENSG00000108064; HGNC ID: 11741
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus21630459
GO:0005739IDA-mitochondrion-
GO:0005759TAS-mitochondrial matrix-
GO:0005829TAS-cytosol-
GO:0042645IDA-mitochondrial nucleoid18063578
GO ID Evidence Qualifier GO_term References
GO:0000978IDA-RNA polymerase II core promoter proximal region sequence-specific DNA binding22037171
GO:0001077IC-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding-
GO:0001223IEA-transcription coactivator binding-
GO:0003682IDA-chromatin binding18063578
GO:0003700IMP-transcription factor activity, sequence-specific DNA binding22037171
GO:0003723IDA-RNA binding22658674
GO:0005515IPI-protein binding12897151
GO:0008301IDA-DNA binding, bending22037171
GO:0031072IEA-heat shock protein binding-
GO:0070363IDA-mitochondrial light strand promoter sense binding19304746
GO ID Evidence Qualifier GO_term References
GO:0006261TAS-DNA-dependent DNA replication8333869
GO:0006356TAS-regulation of transcription from RNA polymerase I promoter8333869
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0006390IMP-transcription from mitochondrial promoter22037171
GO:0006391IDA-transcription initiation from mitochondrial promoter20410300
GO:0006391TAS-transcription initiation from mitochondrial promoter-
GO:0007005TAS-mitochondrion organization-
GO:0033108IEA-mitochondrial respiratory chain complex assembly-
GO:0045893IDA-positive regulation of transcription, DNA-templated20410300
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter20410300
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TFB1MTFAM11287712897151 Affinity Capture-Western; Reconstituted Complex
TFB1MTFAM11929512897151 Affinity Capture-Western; Reconstituted Complex
TFB2MTFAM11287712897151 Reconstituted Complex
TFB2MTFAM12210612897151 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
TFAMrs1937, rs2306604 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
TFAMrs11006130, rs17710934, rs1937, rs2228266, rs2277256, rs2306604, rs34084383, rs41283688 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:107810
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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