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Aliases for TEFM Gene

Aliases for TEFM Gene

  • Transcription Elongation Factor, Mitochondrial 2 3 5
  • C17orf42 3 4
  • Transcription Elongation Factor Of Mitochondria 3
  • Chromosome 17 Open Reading Frame 42 2

External Ids for TEFM Gene

Previous HGNC Symbols for TEFM Gene

  • C17orf42

Previous GeneCards Identifiers for TEFM Gene

  • GC17M029227

Summaries for TEFM Gene

GeneCards Summary for TEFM Gene

TEFM (Transcription Elongation Factor, Mitochondrial) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and crossover junction endodeoxyribonuclease activity.

UniProtKB/Swiss-Prot for TEFM Gene

  • Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TEFM Gene

Genomics for TEFM Gene

Regulatory Elements for TEFM Gene

Enhancers for TEFM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F030849 0.4 FANTOM5 14.3 +56.9 56887 0.3 HDGF ATF1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 LRRC37BP1 TEFM SH3GL1P2 ATAD5 ENSG00000265791 SMURF2P1 GC17P030862
GH17F030949 1.4 FANTOM5 Ensembl ENCODE 12.8 -49.5 -49472 13.0 HDGF PKNOX1 ARID4B YY1 ZNF121 ZNF202 SP5 REST KAT8 MIER3 UTP6 SUZ12 ATAD5 SH3GL1P2 TEFM SMURF2P1 SUZ12P1 RNF135 ENSG00000264456 LRRC37BP1
GH17F030724 0.6 Ensembl 12.6 +182.4 182420 0.4 ZNF548 ATAD5 TEFM ENSG00000264456 RPS17P3 DPRXP4 ENSG00000279337 GC17P030711
GH17F031051 0.8 Ensembl ENCODE 12.6 -145.5 -145481 2.2 HDAC1 PKNOX1 CBX3 ARNT SIN3A GATA2 FOS ZNF202 ZNF362 USF2 UTP6 SUZ12 ATAD5 SH3GL1P2 TEFM SMURF2P1 LRRC37BP1 LOC101927093 LOC646030 GC17M031014
GH17F031074 0.4 ENCODE 12.6 -168.1 -168148 1.2 ZNF202 TEAD4 ZNF384 ZIC2 GLIS1 SCRT2 ZBTB33 ZNF558 UTP6 SUZ12 ATAD5 SH3GL1P2 TEFM SMURF2P1 ENSG00000264148 MIR4733 LOC646030
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TEFM on UCSC Golden Path with GeneCards custom track

Promoters for TEFM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001343939 619 2400 PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for TEFM Gene

Chromosome:
17
Start:
30,897,336 bp from pter
End:
30,906,820 bp from pter
Size:
9,485 bases
Orientation:
Minus strand

Genomic View for TEFM Gene

Genes around TEFM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TEFM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TEFM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TEFM Gene

Proteins for TEFM Gene

  • Protein details for TEFM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QE5-TEFM_HUMAN
    Recommended name:
    Transcription elongation factor, mitochondrial
    Protein Accession:
    Q96QE5
    Secondary Accessions:
    • E1P655
    • Q6GPG5
    • Q6PJ19
    • Q96H04
    • Q9H5Z9

    Protein attributes for TEFM Gene

    Size:
    360 amino acids
    Molecular mass:
    41676 Da
    Quaternary structure:
    • Interacts with POLRMT.
    SequenceCaution:
    • Sequence=AAH73169.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAB15468.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for TEFM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TEFM Gene

Post-translational modifications for TEFM Gene

  • Ubiquitination at Lys 124, Lys 137, and Lys 310
  • Modification sites at PhosphoSitePlus

Other Protein References for TEFM Gene

No data available for DME Specific Peptides for TEFM Gene

Domains & Families for TEFM Gene

Protein Domains for TEFM Gene

Suggested Antigen Peptide Sequences for TEFM Gene

Graphical View of Domain Structure for InterPro Entry

Q96QE5

UniProtKB/Swiss-Prot:

TEFM_HUMAN :
  • Belongs to the TEFM family.
Family:
  • Belongs to the TEFM family.
genes like me logo Genes that share domains with TEFM: view

No data available for Gene Families for TEFM Gene

Function for TEFM Gene

Molecular function for TEFM Gene

UniProtKB/Swiss-Prot Function:
Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery.

Gene Ontology (GO) - Molecular Function for TEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21278163
GO:0008821 NOT crossover junction endodeoxyribonuclease activity IDA 21278163
GO:0030337 DNA polymerase processivity factor activity IDA 21278163
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with TEFM: view

Phenotypes for TEFM Gene

genes like me logo Genes that share phenotypes with TEFM: view

Animal Model Products

miRNA for TEFM Gene

miRTarBase miRNAs that target TEFM

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TEFM Gene

Localization for TEFM Gene

Subcellular locations from UniProtKB/Swiss-Prot for TEFM Gene

Mitochondrion matrix. Mitochondrion matrix, mitochondrion nucleoid.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TEFM Gene COMPARTMENTS Subcellular localization image for TEFM gene
Compartment Confidence
mitochondrion 5
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IEA,IDA 21278163
GO:0030529 intracellular ribonucleoprotein complex IDA 21278163
GO:0042645 mitochondrial nucleoid IEA,IDA 21278163
genes like me logo Genes that share ontologies with TEFM: view

Pathways & Interactions for TEFM Gene

SuperPathways for TEFM Gene

No Data Available

Gene Ontology (GO) - Biological Process for TEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IMP 21278163
GO:0006259 DNA metabolic process IEA --
GO:0006264 NOT mitochondrial DNA replication IMP 21278163
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TEFM: view

No data available for Pathways by source and SIGNOR curated interactions for TEFM Gene

Transcripts for TEFM Gene

Unigene Clusters for TEFM Gene

Transcription elongation factor, mitochondrial:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TEFM Gene

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

Relevant External Links for TEFM Gene

GeneLoc Exon Structure for
TEFM
ECgene alternative splicing isoforms for
TEFM

Expression for TEFM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TEFM Gene

Protein differential expression in normal tissues from HIPED for TEFM Gene

This gene is overexpressed in Lung (46.8) and Pancreas (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TEFM Gene



Protein tissue co-expression partners for TEFM Gene

NURSA nuclear receptor signaling pathways regulating expression of TEFM Gene:

TEFM

SOURCE GeneReport for Unigene cluster for TEFM Gene:

Hs.317340
genes like me logo Genes that share expression patterns with TEFM: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TEFM Gene

Orthologs for TEFM Gene

This gene was present in the common ancestor of chordates.

Orthologs for TEFM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TEFM 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia C19H17orf42 34 35
  • 83.75 (n)
dog
(Canis familiaris)
Mammalia TEFM 34 35
  • 83.7 (n)
rat
(Rattus norvegicus)
Mammalia Tefm 34
  • 76.7 (n)
mouse
(Mus musculus)
Mammalia Tefm 34 16 35
  • 76.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 72 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 54 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TEFM 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tefm 34
  • 55.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18464 34
zebrafish
(Danio rerio)
Actinopterygii tefm 34 35
  • 55.97 (n)
Species where no ortholog for TEFM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TEFM Gene

ENSEMBL:
Gene Tree for TEFM (if available)
TreeFam:
Gene Tree for TEFM (if available)

Paralogs for TEFM Gene

No data available for Paralogs for TEFM Gene

Variants for TEFM Gene

Sequence variations from dbSNP and Humsavar for TEFM Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10612648 -- 30,903,506(+) AGGTG(-/TG)AGCCA intron-variant
rs111699946 -- 30,906,124(+) AGAGG(C/T)TAATG intron-variant
rs113352371 -- 30,906,044(+) AGAGG(C/T)TAATG intron-variant
rs114376590 -- 30,905,115(+) GAAAA(C/T)TGTAT intron-variant
rs114382016 -- 30,906,986(+) CGAAT(A/G)TGAGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TEFM Gene

Variant ID Type Subtype PubMed ID
esv1958886 CNV deletion 18987734
esv2715813 CNV deletion 23290073
esv2715816 CNV deletion 23290073
esv3640358 CNV gain 21293372
nsv457720 CNV loss 19166990
nsv833412 CNV loss 17160897

Variation tolerance for TEFM Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.38; 77.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TEFM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TEFM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TEFM Gene

Disorders for TEFM Gene

Relevant External Links for TEFM

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TEFM

No disorders were found for TEFM Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TEFM Gene

Publications for TEFM Gene

  1. TEFM (c17orf42) is necessary for transcription of human mtDNA. (PMID: 21278163) Minczuk M. … Holt I.J. (Nucleic Acids Res. 2011) 2 3 4 64
  2. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. (PMID: 11468690) Jenne D.E. … Kehrer-Sawatzki H. (Am. J. Hum. Genet. 2001) 2 3 4 64
  3. TEFM is a potent stimulator of mitochondrial transcription elongation in vitro. (PMID: 25690892) Posse V. … Gustafsson C.M. (Nucleic Acids Res. 2015) 2 3 64
  4. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. (PMID: 10843809) Jenne D.E. … Thiel G. (Genomics 2000) 2 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for TEFM Gene

Sources for TEFM Gene

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