MED17 (mediator complex subunit 17)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9440
Gene name Gene Name - the full gene name approved by the HGNC.
Mediator complex subunit 17
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MED17
Synonyms (NCBI Gene) Gene synonyms aliases
CRSP6, CRSP77, DRIP80, SRB4, TRAP80
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q21
Summary Summary of gene provided in NCBI Entrez Gene.
The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. T
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs35313315 T>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs267607232 T>C Pathogenic Coding sequence variant, missense variant
rs587780394 C>T Likely-pathogenic Coding sequence variant, missense variant
rs752341132 C>T Pathogenic Stop gained, coding sequence variant
rs1356392449 G>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(277)
miRTarBase ID miRNA Experiments Reference
MIRT045353 hsa-miR-185-5p CLASH 23622248
MIRT672491 hsa-miR-500a-5p HITS-CLIP 23824327
MIRT670986 hsa-miR-3929 HITS-CLIP 23824327
MIRT670985 hsa-miR-4419b HITS-CLIP 23824327
MIRT670984 hsa-miR-4478 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(33)
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0003712 Function Transcription coregulator activity IBA
GO:0003712 Function Transcription coregulator activity IDA 10198638
GO:0003712 Function Transcription coregulator activity IEA
GO:0003713 Function Transcription coactivator activity IDA 12037571, 12218053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603810 2375 ENSG00000042429
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NVC6
Protein name Mediator of RNA polymerase II transcription subunit 17 (Activator-recruited cofactor 77 kDa component) (ARC77) (Cofactor required for Sp1 transcriptional activation subunit 6) (CRSP complex subunit 6) (Mediator complex subunit 17) (Thyroid hormone recepto
Protein function Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RN
PDB 7EMF , 7ENA , 7ENC , 7ENJ , 7LBM , 7NVR , 8GXQ , 8GXS , 8T9D , 8TQW , 8TRH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10156 Med17 125 → 453 Subunit 17 of Mediator complex Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10198638}.
Sequence 
MSGVRAVRISIESACEKQVHEVGLDGTETYLPPLSMSQNLARLAQRIDFSQGSGSEEEEA
AGTEGDAQEWPGAGSSADQDDEEGVVKFQPSLWPWDSVRNNLRSALTEMCVLYDVLSIVR
DKKFMTLDPVSQDALPPKQNPQTLQLISKKKSLAGAAQILLKGAERLTKSVTENQENKLQ
RDFNSELLRLRQHWKLRKVGDKILGDLSYRSAGSLFPHHGTFEVIKNTDLDLDKKIPEDY
CPLDVQIPSDLEGSAYIKVSIQKQAPDIGDLGTVNLFKRPLPKSKPGSPHWQTKLEAAQN
VLLCKEIFAQLSREAVQIKSQVPHIVVKNQIISQPFPSLQLSISLCHSSNDKKSQKFATE
KQCPEDHLYVLEHNLHLLIREFHKQTLSSIMMPHPASAPFGHKRMRLSGPQAFDKNEINS
LQSSEGLLEKIIKQAKHIFLRSRAAATIDSLASRIEDPQIQAHWSNINDVYESSVKVLIT
SQGYEQICKSIQLQLNIGVEQIRVVHRDGRVITLSYQEQELQDFLLSQMSQHQVHAVQQL
AKVMGWQVLSFSNHVGLGPIESIGNASAITVASPSGDYAISVRNGPESGSKIMVQFPRNQ
CKDLPKSDVLQDNKWSHLRGPFKEVQWNKMEGRNFVYKMELLMSALSPCLL
Sequence length 651
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Thyroid hormone signaling pathway   PPARA activates gene expression
Generic Transcription Pathway
Transcriptional regulation of white adipocyte differentiation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebral And Cerebellar Atrophy With Progressive Microcephaly infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly rs267607232, rs763249105, rs372622191 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 33017027
Carcinoma Hepatocellular Associate 35069777
COVID 19 Associate 35390032
Ectrodactyly cardiopathy dysmorphism Associate 40113094