MED23
MCID: MD2001
MIFTS: 26

Med23 (MED23)

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Med23

MalaCards integrated aliases for Med23:

Name: Med23 53
Autosomal Recessive Nonsyndromic Mental Retardation-18 53
Intellectual Disability, Autosomal Recessive 18 53

Classifications:



Summaries for Med23

NIH Rare Diseases : 53 MED23 is a gene that plays a role in brain development. Mutations in MED23 cause difficulty swallowing, screaming spells, reflux, and gastrointestinal problems in infants. Children with MED23 gene mutations have profound learning and developmental delays impairing muscle control, mobility, communication, and speech.  MED23 gene mutations do not cause changes in growth or physical appearance. MED23 is inherited in an autosomal recessive fashion.

MalaCards based summary : Med23, also known as autosomal recessive nonsyndromic mental retardation-18, is related to autosomal recessive non-syndromic intellectual disability and mental retardation, autosomal recessive 18. An important gene associated with Med23 is MED23 (Mediator Complex Subunit 23), and among its related pathways/superpathways are Developmental Biology and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Affiliated tissues include brain, lung and t cells.

Wikipedia : 76 Mediator of RNA polymerase II transcription subunit 23 is an enzyme that in humans is encoded by the... more...

Related Diseases for Med23

Diseases related to Med23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic intellectual disability 31.5 MED23 MED25
2 mental retardation, autosomal recessive 18 11.5
3 lung cancer 10.2
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 breast cancer 10.0
6 hepatocellular carcinoma 10.0
7 small cell cancer of the lung 10.0
8 squamous cell carcinoma 10.0
9 noonan syndrome 3 9.9 IFNL3 KRAS

Graphical network of the top 20 diseases related to Med23:



Diseases related to Med23

Symptoms & Phenotypes for Med23

Drugs & Therapeutics for Med23

Genetic Tests for Med23

Anatomical Context for Med23

MalaCards organs/tissues related to Med23:

41
Brain, Lung, T Cells, Liver, Bone, Smooth Muscle, Adipocyte

Publications for Med23

Articles related to Med23:

(show all 29)
# Title Authors Year
1
Crystal structure of human Mediator subunit MED23. ( 30140054 )
2018
2
Med23 serves as a gatekeeper of the myeloid potential of hematopoietic stem cells. ( 30218073 )
2018
3
Integration of EGFR and LIN-12/Notch Signaling by LIN-1/Elk1, the Cdk8 Kinase Module, and SUR-2/Med23 in Vulval Precursor Cell Fate Patterning in<i>Caenorhabditis elegans</i>. ( 28954762 )
2017
4
Differing roles for sur-2/MED23 in C. elegans and C. briggsae vulval development. ( 28220250 )
2017
5
Mediator MED23 Links Pigmentation and DNA Repair through the Transcription Factor MITF. ( 28834744 )
2017
6
MED23 in endocrinotherapy for breast cancer. ( 28588722 )
2017
7
Mediator Complex Subunits MED2, MED5, MED16, and MED23 Genetically Interact in the Regulation of Phenylpropanoid Biosynthesis. ( 29203634 )
2017
8
MED23-associated refractory epilepsy successfully treated with the ketogenic diet. ( 27311965 )
2016
9
Mediator MED23 cooperates with RUNX2 to drive osteoblast differentiation and bone development. ( 27033977 )
2016
10
Mediator Med23 deficiency enhances neural differentiation of murine embryonic stem cells through modulating BMP signaling. ( 25564654 )
2015
11
MED23-associated intellectual disability in a non-consanguineous family. ( 25845469 )
2015
12
The Mediator subunit MED23 couples H2B mono-ubiquitination to transcriptional control and cell fate determination. ( 26330467 )
2015
13
MED23: a new Mediator of H2B monoubiquitylation. ( 26438725 )
2015
14
MED23 overexpression as a novel target for suppressing proliferation and tumorigenesis in hepatocellular carcinoma. ( 25684393 )
2015
15
Mutational Heterogeneity of MED23 Gene in Colorectal Cancers. ( 26152846 )
2015
16
Liver Med23 ablation improves glucose and lipid metabolism through modulating FOXO1 activity. ( 25223702 )
2014
17
T-cells null for the MED23 subunit of mediator express decreased levels of KLF2 and inefficiently populate the peripheral lymphoid organs. ( 25054639 )
2014
18
Upregulation of mediator MED23 in non-small-cell lung cancer promotes the growth, migration, and metastasis of cancer cells. ( 25273169 )
2014
19
The mediator subunit Med23 contributes to controlling T-cell activation and prevents autoimmunity. ( 25301163 )
2014
20
Mediator MED23 regulates basal transcription in vivo via an interaction with P-TEFb. ( 23340209 )
2013
21
A systematic analysis of host factors reveals a Med23-interferon-I> regulatory axis against herpes simplex virus type 1 replication. ( 23950709 )
2013
22
Downregulation of MED23 Promoted the Tumorigenecity of Esophageal Squamous Cell Carcinoma. ( 23625751 )
2013
23
Selective requirement for Mediator MED23 in Ras-active lung cancer. ( 22988093 )
2012
24
Mediator complex regulates alternative mRNA processing via the MED23 subunit. ( 22264826 )
2012
25
Mediator MED23 plays opposing roles in directing smooth muscle cell and adipocyte differentiation. ( 22972934 )
2012
26
Mutations in the Mediator subunit MED23 link intellectual disability to immediate early gene regulation. ( 22129135 )
2012
27
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. ( 21868677 )
2011
28
Mediator MED23 links insulin signaling to the adipogenesis transcription cascade. ( 19460352 )
2009
29
MED16 and MED23 of Mediator are coactivators of lipopolysaccharide- and heat-shock-induced transcriptional activators. ( 15297616 )
2004

Variations for Med23

Expression for Med23

Search GEO for disease gene expression data for Med23.

Pathways for Med23

GO Terms for Med23

Cellular components related to Med23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.35 LARP7 MED20 MED23 MED25 MED26
2 mediator complex GO:0016592 8.62 MED20 MED26

Biological processes related to Med23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of nucleic acid-templated transcription GO:1903508 9.13 MED20 MED23 MED26
2 transcription initiation from RNA polymerase II promoter GO:0006367 8.92 MED20 MED23 MED25 MED26

Molecular functions related to Med23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription coregulator activity GO:0003712 8.96 MED20 MED26
2 transcription coactivator activity GO:0003713 8.8 MED20 MED23 MED26

Sources for Med23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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