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| # | Reference Title | Reference Citation |
| 1. | Mammalian mediator subunit mMED8 is an Elongin BC-interacting protein that can assemble with Cul2 and Rbx1 to reconstitute a ubiquitin ligase. | Brower CS, etal., Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10353-8. Epub 2002 Jul 29. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. | Lesca G, etal., Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16. |
| 4. | Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12. | Makinen N, etal., PLoS Genet. 2016 Feb 18;12(2):e1005850. doi: 10.1371/journal.pgen.1005850. eCollection 2016 Feb. |
| 5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 6. | The association of a HOPA polymorphism with major depression and phobia. | Philibert R, etal., Compr Psychiatry 2002 Sep-Oct;43(5):404-10. |
| 7. | The Mediator complex and transcription regulation. | Poss ZC, etal., Crit Rev Biochem Mol Biol. 2013 Nov-Dec;48(6):575-608. doi: 10.3109/10409238.2013.840259. Epub 2013 Oct 3. |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 11. | A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. | Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4. |
| 12. | A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). | Rump P, etal., Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x. |
| 13. | The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. | Schwartz CE, etal., J Med Genet. 2007 Jul;44(7):472-7. Epub 2007 Mar 16. |
| 14. | Mutations in MED12 cause X-linked Ohdo syndrome. | Vulto-van Silfhout AT, etal., Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. |
| PMID:10198638 | PMID:10235267 | PMID:11867769 | PMID:11984006 | PMID:12037571 | PMID:12218053 | PMID:15340084 | PMID:17000779 | PMID:19946888 | PMID:20508642 | PMID:20589884 | PMID:20630950 |
| PMID:20720539 | PMID:23575864 | PMID:30361391 |
| Med12 (Rattus norvegicus - Norway rat) |
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| MED12 (Homo sapiens - human) |
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| Med12 (Mus musculus - house mouse) |
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| Med12 (Chinchilla lanigera - long-tailed chinchilla) |
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| MED12 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| MED12 (Canis lupus familiaris - dog) |
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| Med12 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| MED12 (Sus scrofa - pig) |
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| MED12 (Chlorocebus sabaeus - green monkey) |
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| Med12 (Heterocephalus glaber - naked mole-rat) |
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| Med12 (Rattus rattus - black rat) |
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.
Variants in Med12
30 total Variants
|
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH79662 |
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| px-6d9 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 164 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 143 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001193292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001414735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008773272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008773273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280295 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AAHX01111624 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000040334 ⟹ ENSRNOP00000048013 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000076226 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000076957 ⟹ ENSRNOP00000068498 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000090192 ⟹ ENSRNOP00000073197 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000111218 ⟹ ENSRNOP00000084779 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000140120 ⟹ ENSRNOP00000111737 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001193292 ⟹ NP_001180221 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | NM_001414735 ⟹ NP_001401664 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063280295 ⟹ XP_063136365 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063280296 ⟹ XP_063136366 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063280297 ⟹ XP_063136367 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063280298 ⟹ XP_063136368 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_001180221 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001401664 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136365 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136366 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136367 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136368 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000048013.6 | ||
| ENSRNOP00000068498 | |||
| ENSRNOP00000068498.1 | |||
| ENSRNOP00000073197 | |||
| ENSRNOP00000073197.3 | |||
| ENSRNOP00000084779.2 | |||
| ENSRNOP00000111737 | |||
| ENSRNOP00000111737.1 |
| RefSeq Acc Id: | NP_001180221 ⟸ NM_001193292 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | A0A8I6A1Z4 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000073197 ⟸ ENSRNOT00000090192 |
| Ensembl Acc Id: | ENSRNOP00000068498 ⟸ ENSRNOT00000076957 |
| Ensembl Acc Id: | ENSRNOP00000048013 ⟸ ENSRNOT00000040334 |
| Ensembl Acc Id: | ENSRNOP00000084779 ⟸ ENSRNOT00000111218 |
| RefSeq Acc Id: | NP_001401664 ⟸ NM_001414735 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | A0A096MKF8 (UniProtKB/TrEMBL), A0A8I6A1Z4 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136367 ⟸ XM_063280297 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A8I6A1Z4 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136365 ⟸ XM_063280295 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8I6A1Z4 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136368 ⟸ XM_063280298 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A0A8I6A1Z4 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136366 ⟸ XM_063280296 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8I6A1Z4 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000111737 ⟸ ENSRNOT00000140120 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-A0A096MKF8-F1-model_v2 | AlphaFold | A0A096MKF8 | 1-2190 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701875 | ||||||||
| Promoter ID: | EPDNEW_R12397 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Med12_2 | ||||||||
| Description: | mediator complex subunit 12 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_R12398 | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| RGD ID: | 13701880 | ||||||||
| Promoter ID: | EPDNEW_R12398 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Med12_1 | ||||||||
| Description: | mediator complex subunit 12 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_R12397 | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1585896 | AgrOrtholog |
| BioCyc Gene | G2FUF-2103 | BioCyc |
| Ensembl Genes | ENSRNOG00000003848 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000040334.6 | UniProtKB/TrEMBL |
| ENSRNOT00000076957 | ENTREZGENE | |
| ENSRNOT00000076957.4 | UniProtKB/TrEMBL | |
| ENSRNOT00000090192 | ENTREZGENE | |
| ENSRNOT00000090192.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000111218.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000140120 | ENTREZGENE | |
| ENSRNOT00000140120.1 | UniProtKB/TrEMBL | |
| InterPro | Med12-LCEWAV | UniProtKB/TrEMBL |
| Med12-PQL | UniProtKB/TrEMBL | |
| Mediator_comp_sub12 | UniProtKB/TrEMBL | |
| Mediator_Med12 | UniProtKB/TrEMBL | |
| NCBI Gene | 679693 | ENTREZGENE |
| PANTHER | MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 12 | UniProtKB/TrEMBL |
| MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 12 | UniProtKB/TrEMBL | |
| Pfam | Med12 | UniProtKB/TrEMBL |
| Med12-LCEWAV | UniProtKB/TrEMBL | |
| Med12-PQL | UniProtKB/TrEMBL | |
| PhenoGen | Med12 | PhenoGen |
| RatGTEx | ENSRNOG00000003848 | RatGTEx |
| SMART | Med12 | UniProtKB/TrEMBL |
| UniProt | A0A096MKF8 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A0G2K4W3_RAT | UniProtKB/TrEMBL | |
| A0A8I6A1Z4 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0ABK0LYL7_RAT | UniProtKB/TrEMBL | |
| D3ZDE6_RAT | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2010-03-16 | Med12 | mediator complex subunit 12 | LOC679693 | similar to Mediator of RNA polymerase II transcription subunit 12 (Thyroid hormone receptor-associated protein complex 230 kDa component) (Trap230) (Activator-recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (OPA-containing pr... | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-01-09 | LOC679693 | similar to Mediator of RNA polymerase II transcription subunit 12 (Thyroid hormone receptor-associated protein complex 230 kDa component) (Trap230) (Activator-recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (OPA-containing pr... | LOC683401 | similar to Mediator of RNA polymerase II transcription subunit 12 (Thyroid hormone receptor-associated protein complex 230 kDa component) (Trap230) (Activator-recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (OPA-containing pr... | Data merged from RGD:1586889 | 1643240 | APPROVED |
| 2006-11-19 | LOC679693 | similar to Mediator of RNA polymerase II transcription subunit 12 (Thyroid hormone receptor-associated protein complex 230 kDa component) (Trap230) (Activator-recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (OPA-containing pr... | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2006-11-19 | LOC683401 | similar to Mediator of RNA polymerase II transcription subunit 12 (Thyroid hormone receptor-associated protein complex 230 kDa component) (Trap230) (Activator-recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (OPA-containing pr... | Symbol and Name status set to provisional | 70820 | PROVISIONAL |