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Aliases for MED17 Gene

Aliases for MED17 Gene

  • Mediator Complex Subunit 17 2 3 4 5
  • Cofactor Required For Sp1 Transcriptional Activation, Subunit 6, 77kDa 2 3
  • Thyroid Hormone Receptor-Associated Protein Complex 80 KDa Component 3 4
  • Vitamin D3 Receptor-Interacting Protein Complex 80 KDa Component 3 4
  • Activator-Recruited Cofactor 77 KDa Component 3 4
  • Transcriptional Coactivator CRSP77 3 4
  • CRSP Complex Subunit 6 3 4
  • DRIP80 3 4
  • TRAP80 3 4
  • CRSP6 3 4
  • ARC77 3 4
  • Cofactor Required For Sp1 Transcriptional Activation, Subunit 6 (77kD) 2
  • Cofactor Required For Sp1 Transcriptional Activation Subunit 6 4
  • Mediator Of RNA Polymerase II Transcription Subunit 17 3
  • CRSP77 3
  • DRIP77 4
  • SRB4 3

External Ids for MED17 Gene

Previous HGNC Symbols for MED17 Gene

  • CRSP6

Previous GeneCards Identifiers for MED17 Gene

  • GC11P093158
  • GC11P093517
  • GC11P089594

Summaries for MED17 Gene

Entrez Gene Summary for MED17 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. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]

GeneCards Summary for MED17 Gene

MED17 (Mediator Complex Subunit 17) is a Protein Coding gene. Diseases associated with MED17 include Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy and Microcephaly. Among its related pathways are Thyroid hormone signaling pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include receptor activity and transcription cofactor activity. An important paralog of this gene is ENSG00000284057.

UniProtKB/Swiss-Prot for MED17 Gene

  • 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 RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.

Gene Wiki entry for MED17 Gene

Additional gene information for MED17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED17 Gene

Genomics for MED17 Gene

GeneHancer (GH) Regulatory Elements for MED17 Gene

Promoters and enhancers for MED17 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
GH11I093783 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 593.2 +0.5 503 2.6 PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 MED17 TAF1D C11orf54 SNORA1 MRE11 ANKRD49 SNORA40 SNORA18 SNORA25 SNORA32
GH11I093733 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 98.1 -45.9 -45892 9.9 HNRNPUL1 PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 POLR2B C11orf54 TAF1D MED17 ANKRD49 CEP295 MRE11 SNORA1 ENSG00000255445 SMCO4 ENSG00000284057
GH11I094127 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43.2 +348.3 348258 10.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207 ZNF143 FOS PANX1 MED17 ANKRD49 MRE11 SNORA1 HEPHL1 FUT4 PIR47114 GC11P094183
GH11I094237 Enhancer 0.8 ENCODE 90.8 +453.6 453603 0.1 ZNF473 ZNF195 BRCA1 GLIS2 HSF1 ZNF416 ZNF350 MCM3 ZNF114 YY2 CEP295 MED17 MRE11 ANKRD49 SNORA1 BUD13P1 ENSG00000270578 KDM4D ENSG00000255893 FUT4
GH11I093196 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 32.3 -586.6 -586557 2.3 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF207 FOS KLF13 SLC36A4 CEP295 MED17 ENSG00000255445 SNORA1 ENSG00000280379
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MED17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MED17 gene promoter:

Genomic Locations for MED17 Gene

Genomic Locations for MED17 Gene
chr11:93,784,227-93,814,963
(GRCh38/hg38)
Size:
30,737 bases
Orientation:
Plus strand
chr11:93,517,393-93,547,861
(GRCh37/hg19)

Genomic View for MED17 Gene

Genes around MED17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MED17 Gene

Proteins for MED17 Gene

  • Protein details for MED17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVC6-MED17_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 17
    Protein Accession:
    Q9NVC6
    Secondary Accessions:
    • B3KN07
    • Q9HA81
    • Q9UNP7
    • Q9Y2W0
    • Q9Y660

    Protein attributes for MED17 Gene

    Size:
    651 amino acids
    Molecular mass:
    72890 Da
    Quaternary structure:
    • Interacts with GATA1 and PPARG (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with STAT2.
    SequenceCaution:
    • Sequence=AAD30856.1; Type=Frameshift; Positions=333, 335, 341, 346; Evidence={ECO:0000305};

    Alternative splice isoforms for MED17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MED17 Gene

Post-translational modifications for MED17 Gene

  • Ubiquitination at posLast=123123, isoforms=178, and posLast=623623

No data available for DME Specific Peptides for MED17 Gene

Domains & Families for MED17 Gene

Gene Families for MED17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MED17 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MED17 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NVC6

UniProtKB/Swiss-Prot:

MED17_HUMAN :
  • Belongs to the Mediator complex subunit 17 family.
Family:
  • Belongs to the Mediator complex subunit 17 family.
genes like me logo Genes that share domains with MED17: view

Function for MED17 Gene

Molecular function for MED17 Gene

UniProtKB/Swiss-Prot 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 RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.

Phenotypes From GWAS Catalog for MED17 Gene

Gene Ontology (GO) - Molecular Function for MED17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001104 RNA polymerase II transcription cofactor activity IDA 10198638
GO:0003712 transcription cofactor activity IDA 12218053
GO:0003713 transcription coactivator activity IDA 12037571
GO:0004872 receptor activity IDA 12218053
GO:0005515 protein binding IPI 12584197
genes like me logo Genes that share ontologies with MED17: view
genes like me logo Genes that share phenotypes with MED17: view

Human Phenotype Ontology for MED17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MED17 Gene

miRTarBase miRNAs that target MED17

Clone Products

  • Addgene plasmids for MED17

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MED17 Gene

Localization for MED17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED17 Gene

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 MED17 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MED17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10235267
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 9989412
GO:0016020 membrane IDA,HDA 19946888
GO:0016592 mediator complex IEA,IDA 10198638
genes like me logo Genes that share ontologies with MED17: view

Pathways & Interactions for MED17 Gene

genes like me logo Genes that share pathways with MED17: view

Pathways by source for MED17 Gene

Gene Ontology (GO) - Biological Process for MED17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA,IDA 9989412
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0030518 intracellular steroid hormone receptor signaling pathway IDA 11867769
genes like me logo Genes that share ontologies with MED17: view

No data available for SIGNOR curated interactions for MED17 Gene

Drugs & Compounds for MED17 Gene

No Compound Related Data Available

Transcripts for MED17 Gene

Unigene Clusters for MED17 Gene

Mediator complex subunit 17:
Representative Sequences:

Clone Products

  • Addgene plasmids for MED17

Alternative Splicing Database (ASD) splice patterns (SP) for MED17 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ^ 13 ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: -
SP5: - -
SP6: -
SP7:
SP8: -
SP9: -
SP10:

ExUns: 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for MED17 Gene

GeneLoc Exon Structure for
MED17
ECgene alternative splicing isoforms for
MED17

Expression for MED17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MED17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MED17 Gene

This gene is overexpressed in Breast (23.9) and Serum (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MED17 Gene



Protein tissue co-expression partners for MED17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MED17 Gene:

MED17

SOURCE GeneReport for Unigene cluster for MED17 Gene:

Hs.444931

mRNA Expression by UniProt/SwissProt for MED17 Gene:

Q9NVC6-MED17_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MED17 Gene

  • Skin(4.2)
  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MED17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with MED17: view

No data available for mRNA differential expression in normal tissues for MED17 Gene

Orthologs for MED17 Gene

This gene was present in the common ancestor of animals.

Orthologs for MED17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MED17 33 34
  • 99.44 (n)
oppossum
(Monodelphis domestica)
Mammalia MED17 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MED17 33 34
  • 92.73 (n)
dog
(Canis familiaris)
Mammalia MED17 33 34
  • 92.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Med17 33
  • 86.49 (n)
mouse
(Mus musculus)
Mammalia Med17 33 16 34
  • 86.44 (n)
chicken
(Gallus gallus)
Aves MED17 33 34
  • 80.25 (n)
lizard
(Anolis carolinensis)
Reptilia MED17 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia med17 33
  • 75.27 (n)
Str.10192 33
zebrafish
(Danio rerio)
Actinopterygii MED17 34
  • 75 (a)
OneToOne
med17 33
  • 69.94 (n)
zgc73307 33
fruit fly
(Drosophila melanogaster)
Insecta MED17 33 34
  • 50.24 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta MED17_ANOGA 33
  • 49.68 (n)
worm
(Caenorhabditis elegans)
Secernentea mdt-17 33 34
  • 41.28 (n)
Species where no ortholog for MED17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)

Evolution for MED17 Gene

ENSEMBL:
Gene Tree for MED17 (if available)
TreeFam:
Gene Tree for MED17 (if available)

Paralogs for MED17 Gene

Paralogs for MED17 Gene

genes like me logo Genes that share paralogs with MED17: view

Variants for MED17 Gene

Sequence variations from dbSNP and Humsavar for MED17 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs267607232 pathogenic, Microcephaly, postnatal progressive, with seizures and brain atrophy, Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668] 93,796,509(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs587780394 likely-pathogenic, Microcephaly, postnatal progressive, with seizures and brain atrophy 93,790,727(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs745733410 likely-pathogenic, not provided 93,784,607(+) CCCCC/CCCCCC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1012490915 likely-benign, not specified 93,788,080(+) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs138934738 likely-benign, not specified 93,811,860(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for MED17 Gene

Variant ID Type Subtype PubMed ID
nsv832232 CNV gain 17160897
esv3627294 CNV gain 21293372

Variation tolerance for MED17 Gene

Residual Variation Intolerance Score: 7.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MED17 Gene

Human Gene Mutation Database (HGMD)
MED17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED17 Gene

Disorders for MED17 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MED17 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly, postnatal progressive, with seizures and brain atrophy
  • postnatal progressive microcephaly, seizures, and brain atrophy
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search MED17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MED17_HUMAN
  • Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668]: A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. {ECO:0000269 PubMed:20950787}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MED17

genes like me logo Genes that share disorders with MED17: view

No data available for Genatlas for MED17 Gene

Publications for MED17 Gene

  1. Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. (PMID: 10198638) Ito M … Roeder RG (Molecular cell 1999) 2 3 4 58
  2. The transcriptional cofactor complex CRSP is required for activity of the enhancer-binding protein Sp1. (PMID: 9989412) Ryu S … Tjian R (Nature 1999) 2 3 4 58
  3. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. (PMID: 20950787) Kaufmann R … Elpeleg O (American journal of human genetics 2010) 3 4 58
  4. MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription. (PMID: 15989967) Zhang X … Roeder RG (Molecular cell 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for MED17 Gene

Sources for MED17 Gene

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