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Gene Gene information from NCBI Gene database.
Entrez ID 118460
Gene name Exosome component 6
Gene symbol EXOSC6
Synonyms (NCBI Gene)
EAP4MTR3Mtr3phMtr3pp11
Chromosome 16
Chromosome location 16q22.1
Summary This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its
miRNA miRNA information provided by mirtarbase database.
562 Show/Hide all (562)
miRTarBase ID miRNA Experiments Reference
MIRT049776 hsa-miR-92a-3p CLASH 23622248
MIRT683712 hsa-miR-548c-3p HITS-CLIP 19536157
MIRT709010 hsa-miR-3163 HITS-CLIP 19536157
MIRT709009 hsa-miR-340-3p HITS-CLIP 19536157
MIRT709008 hsa-miR-6827-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35 Show/Hide all (35)
GO ID Ontology Definition Evidence Reference
GO:0000176 Component Nuclear exosome (RNase complex) IBA
GO:0000176 Component Nuclear exosome (RNase complex) NAS 20531386
GO:0000177 Component Cytoplasmic exosome (RNase complex) IBA
GO:0000177 Component Cytoplasmic exosome (RNase complex) NAS 20531386
GO:0000178 Component Exosome (RNase complex) IDA 20531389
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606490 19055 ENSG00000223496
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5RKV6
Protein name Exosome complex component MTR3 (Exosome component 6) (mRNA transport regulator 3 homolog) (hMtr3) (p11)
Protein function Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturat
PDB 2NN6 , 6D6Q , 6D6R , 6H25 , 9G8N , 9G8O , 9G8P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01138 RNase_PH 35 → 175 Domain
Sequence
MPGDHRRIRGPEESQPPQLYAADEEEAPGTRDPTRLRPVYARAGLLSQAKGSAYLEAGGT
KVLCAVSGPRQAEGGERGGGPAGAGGEAPAALRGRLLCDFRRAPFAGRRRRAPPGGCEER
ELALALQEALEPAVRLGRYPRAQLEVSALLLEDGGSALAAALTAAALALADAGVE
MYDLV
VGCGLSLAPGPAPTWLLDPTRLEEERAAAGLTVALMPVLNQVAGLLGSGEGGLTESWAEA
VRLGLEGCQRLYPVLQQSLVRAARRRGAAAQP
Sequence length 272
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
RNA degradation ATF4 activates genes in response to endoplasmic reticulum stress
  mRNA decay by 3' to 5' exoribonuclease
  Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
  Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
  KSRP (KHSRP) binds and destabilizes mRNA
  Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (29)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26465153
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 18289715
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 26465153
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 19815710, 31337969
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 19815710, 31337969
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 19380152, 21722919
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17203189
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 26465153
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 16400147, 17510952, 18838110, 19380152, 19702551, 20962329, 21367534, 22990943, 26821757, 27457815, 28137881, 28507317, 29550211, 30617637, 31337969
★★★★★
★☆☆☆☆
Found in Text Mining only
Hematological Disease Hematological Disease BEFREE 3971322
★★★★★
★☆☆☆☆
Found in Text Mining only