TEFM (transcription elongation factor, mitochondrial)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79736
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription elongation factor, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TEFM
Synonyms (NCBI Gene) Gene synonyms aliases
C17orf42, COXPD58
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COXPD58
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT050920 hsa-miR-17-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 21278163
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix IDA 21278163
GO:0006119 Process Oxidative phosphorylation IMP 21278163
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616422 26223 ENSG00000172171
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96QE5
Protein name Transcription elongation factor, mitochondrial
Protein function Transcription elongation factor which increases mitochondrial RNA polymerase processivity (PubMed:21278163, PubMed:36823193). Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machin
PDB 5OL8 , 5OL9 , 5OLA , 8U8U , 8U8V , 9BDC , 9BDD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12836 HHH_3 76 → 132 Domain
Sequence 
MSGSVLFTAGERWRCFLTPSRSSLYWALHNFCCRKKSTTPKKITPNVTFCDENAKEPENA
LDKLFSSEQQASILHVLNTASTKELEAFRLLRGRRSINIVEHRENFGPFQNLESLMNVPL
FKYKSTVQVCNSILCPKTGREKRKSPENRFLRKLLKPDIERERLKAVNSIISIVFGTRRI
AWAHLDRKLTVLDWQQSDRWSLMRGIYSSSVYLEEISSIISKMPKADFYVLEKTGLSIQN
SSLFPILLHFHIMEAMLYALLNKTFAQDGQHQVLSMNRNAVGKHFELMIGDSRTSGKELV
KQFLFDSILKADPRVFFPSDKIVHYRQMFLSTELQRVEELYDSLLQAIAFYELAVFDSQP
Sequence length 360
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)		 29059683
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation deficiency 58 GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Neuromuscular Junction Diseases Associate 37721175