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MED12
HPA
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  • MED12
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

MED12
Synonyms ARC240, CAGH45, FGS1, HOPA, KIAA0192, Kto, OKS, OPA1, TNRC11, TRAP230
Gene descriptioni

Full gene name according to HGNC.

Mediator complex subunit 12
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome X
Cytoband q13.1
Chromosome location (bp) 71118543 - 71144103
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

13
Ensembl ENSG00000184634 (version 109)
Entrez gene 9968
HGNC HGNC:11957
UniProt Q93074 (UniProt - Evidence at protein level)
neXtProt NX_Q93074
GeneCards MED12
Antibodypedia MED12 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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 pre-initiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Activator, Repressor
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Transcription, Transcription regulation
Gene summary (Entrez)i

Useful information about the gene from Entrez

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MED12-201
ENSP00000333125
ENST00000333646
A0A0A0MR79
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003712 [transcription coregulator activity]
GO:0005634 [nucleus]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
2137 aa
238.4 kDa
No 0
MED12-202
ENSP00000363193
ENST00000374080
Q93074
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0001756 [somitogenesis]
GO:0001843 [neural tube closure]
GO:0003682 [chromatin binding]
GO:0003712 [transcription coregulator activity]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007492 [endoderm development]
GO:0007507 [heart development]
GO:0008013 [beta-catenin binding]
GO:0008022 [protein C-terminus binding]
GO:0014003 [oligodendrocyte development]
GO:0014044 [Schwann cell development]
GO:0016020 [membrane]
GO:0016567 [protein ubiquitination]
GO:0016592 [mediator complex]
GO:0019904 [protein domain specific binding]
GO:0021510 [spinal cord development]
GO:0021915 [neural tube development]
GO:0030374 [nuclear receptor coactivator activity]
GO:0035019 [somatic stem cell population maintenance]
GO:0036342 [post-anal tail morphogenesis]
GO:0042809 [nuclear vitamin D receptor binding]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046966 [nuclear thyroid hormone receptor binding]
GO:0048568 [embryonic organ development]
GO:0048702 [embryonic neurocranium morphogenesis]
GO:0060071 [Wnt signaling pathway, planar cell polarity pathway]
GO:0060261 [positive regulation of transcription initiation by RNA polymerase II]
GO:0061630 [ubiquitin protein ligase activity]
GO:0090245 [axis elongation involved in somitogenesis]
GO:1990403 [embryonic brain development]
Show all
2177 aa
243.1 kDa
No 0
MED12-203
ENSP00000363215
ENST00000374102
Q93074
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003712 [transcription coregulator activity]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008013 [beta-catenin binding]
GO:0008022 [protein C-terminus binding]
GO:0016020 [membrane]
GO:0016592 [mediator complex]
GO:0019904 [protein domain specific binding]
GO:0030374 [nuclear receptor coactivator activity]
GO:0042809 [nuclear vitamin D receptor binding]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046966 [nuclear thyroid hormone receptor binding]
GO:0060261 [positive regulation of transcription initiation by RNA polymerase II]
Show all
2180 aa
243.4 kDa
No 0
MED12-205
ENSP00000404373
ENST00000444034
H7C274
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
501 aa
56.8 kDa
No 0
MED12-217
ENSP00000510724
ENST00000687382
A0A8I5QJW8
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003712 [transcription coregulator activity]
GO:0005634 [nucleus]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
2152 aa
240.4 kDa
No 0
MED12-222
ENSP00000508591
ENST00000688231
A0A8I5KVC2
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
247 aa
27.8 kDa
No 0
MED12-233
ENSP00000508818
ENST00000690145
A0A8I5KUR0
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003712 [transcription coregulator activity]
GO:0005634 [nucleus]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
2179 aa
243.3 kDa
No 0
MED12-234
ENSP00000510090
ENST00000690242
A0A8I5KW86
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003712 [transcription coregulator activity]
GO:0005634 [nucleus]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
2155 aa
240.7 kDa
No 0
MED12-237
ENSP00000510183
ENST00000690690
A0A8I5KRJ8
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
357 aa
39.2 kDa
No 0
MED12-245
ENSP00000509011
ENST00000691468
A0A8I5KXK9
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003712 [transcription coregulator activity]
GO:0005634 [nucleus]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
1899 aa
211.3 kDa
No 0
MED12-247
ENSP00000508427
ENST00000692304
Q93074
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Disease related genes
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003712 [transcription coregulator activity]
GO:0003713 [transcription coactivator activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008013 [beta-catenin binding]
GO:0008022 [protein C-terminus binding]
GO:0016020 [membrane]
GO:0016592 [mediator complex]
GO:0019904 [protein domain specific binding]
GO:0030374 [nuclear receptor coactivator activity]
GO:0042809 [nuclear vitamin D receptor binding]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046966 [nuclear thyroid hormone receptor binding]
GO:0060261 [positive regulation of transcription initiation by RNA polymerase II]
Show all
2176 aa
243 kDa
No 0
MED12-253
ENSP00000508643
ENST00000693324
A0A8I5KQY2
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003712 [transcription coregulator activity]
GO:0005634 [nucleus]
GO:0006351 [DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
1904 aa
211.8 kDa
No 0
MED12-254
ENSP00000509563
ENST00000693391
A0A8I5KSA4
[Direct mapping] Mediator of RNA polymerase II transcription subunit 12
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
Human disease related genes
   Congenital malformations
   Other congenital malformations
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005634 [nucleus]
GO:0008013 [beta-catenin binding]
GO:0016592 [mediator complex]
Show all
1494 aa
166.8 kDa
No 0

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