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Aliases for TEFM Gene

Aliases for TEFM Gene

  • Transcription Elongation Factor, Mitochondrial 2 3 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. Gene Ontology (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.

Additional gene information for TEFM Gene

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

GeneHancer (GH) Regulatory Elements for TEFM Gene

Promoters and enhancers for TEFM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J030905 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 664.8 +0.3 343 2.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 TEFM GC17P030907 GC17P030905 ADAP2 UTP6 SUZ12P1 ATAD5 GOSR1 NF1 ENSG00000264456
GH17J030476 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.7 +429.3 429251 2 ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC PPARGC1A GOSR1 ATAD5 SH3GL1P2 ENSG00000264456 RNF135 TEFM LRRC37BP1 SUZ12P1 DPRXP4 NF1
GH17J030706 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 23.5 +198.0 198028 5 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF213 SUZ12P1 GC17P030711 GOSR1 ATAD5 NF1 LRRC37BP1 ENSG00000266490 TEFM SH3GL1P2 SMURF2P1
GH17J030818 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15 +84.0 84037 8.4 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B CRLF3 SUZ12P1 GOSR1 LOC101927093 TEFM ENSG00000214719 ENSG00000263567 ATAD5 TBC1D29 NSRP1
GH17J031900 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.1 -994.7 -994680 1.8 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 UTP6 ZNF207 SUZ12 COPRS TEFM PSMD11 DPRXP4 SH3GL1P1 ENSG00000264456 ENSG00000263990
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TEFM on UCSC Golden Path with GeneCards custom track

Genomic Locations for TEFM Gene

Genomic Locations for TEFM Gene
chr17:30,897,336-30,906,820
(GRCh38/hg38)
Size:
9,485 bases
Orientation:
Minus strand
chr17:29,224,354-29,233,838
(GRCh37/hg19)

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};

    Three dimensional structures from OCA and Proteopedia for TEFM Gene

    Alternative splice isoforms for TEFM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TEFM Gene

Post-translational modifications for TEFM Gene

  • Ubiquitination at isoforms=310, posLast=137137, and posLast=124124
  • 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

Gene Families for TEFM Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TEFM Gene

InterPro:
ProtoNet:

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

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.

Phenotypes From GWAS Catalog for TEFM Gene

Gene Ontology (GO) - Molecular Function for TEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 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
genes like me logo Genes that share phenotypes with TEFM: view

Animal Model Products

miRNA for TEFM Gene

miRTarBase miRNAs that target TEFM

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IDA,IEA 21278163
GO:0042645 mitochondrial nucleoid IDA,IEA 21278163
GO:1990904 ribonucleoprotein complex IDA 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

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

mRNA/cDNA for TEFM Gene

Unigene Clusters for TEFM Gene

Transcription elongation factor, mitochondrial:
Representative Sequences:

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, 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

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 33
  • 99.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C19H17orf42 34 33
  • 83.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TEFM 34 33
  • 83.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tefm 33
  • 76.7 (n)
mouse
(Mus musculus)
Mammalia Tefm 16 34 33
  • 76.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 72 (a)
OneToMany
-- 34
  • 59 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 54 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TEFM 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tefm 33
  • 55.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18464 33
zebrafish
(Danio rerio)
Actinopterygii tefm 34 33
  • 55.97 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for TEFM: view image

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 Variation AA Info Type
rs1000045614 -- 30,906,490(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000258870 -- 30,902,909(-) G/A intron_variant
rs1000290134 -- 30,902,447(-) A/G intron_variant
rs1001011906 -- 30,905,229(-) G/T intron_variant
rs1001902773 -- 30,901,491(-) A/C 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)

Additional Variant Information for TEFM Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TEFM Gene

Additional Disease Information for 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 IJ (Nucleic acids research 2011) 2 3 4 58
  2. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. (PMID: 11468690) Jenne DE … Kehrer-Sawatzki H (American journal of human genetics 2001) 2 3 4 58
  3. TEFM is a potent stimulator of mitochondrial transcription elongation in vitro. (PMID: 25690892) Posse V … Gustafsson CM (Nucleic acids research 2015) 2 3 58
  4. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. (PMID: 10843809) Jenne DE … Thiel G (Genomics 2000) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TEFM Gene

Sources for TEFM Gene

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