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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 , CIViC 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
GH17G030715 1.5 Ensembl ENCODE dbSUPER 20.2 +191.5 191520 0.6 HDGF FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF121 GLIS2 ZNF143 SP3 LRRC37BP1 SMURF2P1 SUZ12P1 LOC646030 TEFM ATAD5 SH3GL1P2 ENSG00000265791 ENSG00000263531 ENSG00000264456
GH17G030363 1.5 FANTOM5 Ensembl ENCODE 10.8 +542.9 542884 1.1 HDAC1 PKNOX1 BMI1 EGR1 ZNF143 FOS RELB ETV6 IKZF2 CREM TEFM ATAD5 CPD BLMH LOC101927093 NSRP1 SSH2 GOSR1 GC17P030363
GH17G031548 1.6 Ensembl ENCODE dbSUPER 9.9 -643.0 -642981 2.4 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 UTP6 SUZ12 ENSG00000266490 SH3GL1P2 ATAD5 RHBDL3 DPRXP4 RNF135 ENSG00000264456 TEFM
GH17G030697 1.5 Ensembl ENCODE dbSUPER 10 +208.7 208726 1.4 ARID4B SIN3A GLI4 ZNF2 GTF3C2 ZNF121 ZNF143 FOS SP3 REST SUZ12P1 ENSG00000266490 SH3GL1P2 ATAD5 DPRXP4 RNF135 ENSG00000264456 TEFM LRRC37BP1 RN7SL316P
GH17G030968 1.3 ENCODE dbSUPER 11.2 -63.7 -63670 4.8 HDGF FOXA2 WRNIP1 SIN3A YY1 ZNF143 ZNF207 ZNF263 SP3 SP5 LRRC37BP1 SUZ12 UTP6 ATAD5 ENSG00000264456 ENSG00000265791 SMURF2P1 TEFM RNF135 RAB11FIP4
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000093039 520 1801 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

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 isoforms=4124, Lys137, and Lys310
  • 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:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 21278163
GO:0008821 NOT crossover junction endodeoxyribonuclease activity IDA 21278163
GO:0030337 DNA polymerase processivity factor activity IDA 21278163
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

CRISPR Products

miRNA for TEFM Gene

miRTarBase miRNAs that target TEFM

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TEFM gene
Compartment Confidence
mitochondrion 5
peroxisome 1
nucleus 1
cytosol 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 IDA,IEA 21278163
genes like me logo Genes that share ontologies with TEFM: view

Pathways & Interactions for TEFM Gene

No Data Available

Interacting Proteins for TEFM Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000462963%0d%0a9606.ENSP00000368797%0d%0a9606.ENSP00000333799%0d%0a
Selected Interacting proteins: Q96QE5-TEFM_HUMAN ENSP00000462963 for TEFM Gene via MINT STRING IID

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

Drugs & Compounds for TEFM Gene

No Compound Related Data Available

Transcripts for TEFM Gene

Unigene Clusters for TEFM Gene

Transcription elongation factor, mitochondrial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for TEFM Gene

  • Intestine(4.1)
  • Nervous system(4.1)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1000045614 -- 30,906,490(+) GAGCC(A/G)CTGGG upstream-variant-2KB, utr-variant-5-prime
rs1000258870 -- 30,902,909(+) AGCCC(A/G)AGGCA intron-variant
rs1000290134 -- 30,902,447(+) GACTT(A/G)TATCT intron-variant
rs1000745745 -- 30,905,521(+) GTCTC(-/AAAAAAAA)AAAAA intron-variant
rs1001011906 -- 30,905,229(+) TTAAG(G/T)TTTGT intron-variant

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 Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. (PMID: 27667664) Arroyo J.D. … Mootha V.K. (Cell Metab. 2016) 3 64

Products for TEFM Gene

Sources for TEFM Gene

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