MCID: MD2001
MIFTS: 27

Med23

Categories: Rare diseases, Neuronal diseases, Mental 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 alacrima, achalasia, and mental retardation syndrome. An important gene associated with Med23 is MED23 (Mediator Complex Subunit 23), and among its related pathways/superpathways are Developmental Biology and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include brain, lung and t cells, and related phenotypes are Decreased POU5F1-GFP protein expression and Decreased POU5F1-GFP protein expression

Related Diseases for Med23

Graphical network of the top 20 diseases related to Med23:



Diseases related to Med23

Symptoms & Phenotypes for Med23

GenomeRNAi Phenotypes related to Med23 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased POU5F1-GFP protein expression GR00184-A-1 9.02 MED12 MED13L MED17
2 Decreased POU5F1-GFP protein expression GR00184-A-4 9.02 MED12 MED13L

Drugs & Therapeutics for Med23

Genetic Tests for Med23

Anatomical Context for Med23

MalaCards organs/tissues related to Med23:

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

Publications for Med23

Articles related to Med23:

(show all 22)
# Title Authors Year
1
Mediator MED23 Links Pigmentation and DNA Repair through the Transcription Factor MITF. ( 28834744 )
2017
2
MED23 in endocrinotherapy for breast cancer. ( 28588722 )
2017
3
Mediator Complex Subunits MED2, MED5, MED16, and MED23 Genetically Interact in the Regulation of Phenylpropanoid Biosynthesis. ( 29203634 )
2017
4
Mediator MED23 cooperates with RUNX2 to drive osteoblast differentiation and bone development. ( 27033977 )
2016
5
Mediator Med23 deficiency enhances neural differentiation of murine embryonic stem cells through modulating BMP signaling. ( 25564654 )
2015
6
The Mediator subunit MED23 couples H2B mono-ubiquitination to transcriptional control and cell fate determination. ( 26330467 )
2015
7
MED23: a new Mediator of H2B monoubiquitylation. ( 26438725 )
2015
8
MED23 overexpression as a novel target for suppressing proliferation and tumorigenesis in hepatocellular carcinoma. ( 25684393 )
2015
9
Mutational Heterogeneity of MED23 Gene in Colorectal Cancers. ( 26152846 )
2015
10
Liver Med23 ablation improves glucose and lipid metabolism through modulating FOXO1 activity. ( 25223702 )
2014
11
T-cells null for the MED23 subunit of mediator express decreased levels of KLF2 and inefficiently populate the peripheral lymphoid organs. ( 25054639 )
2014
12
Upregulation of mediator MED23 in non-small-cell lung cancer promotes the growth, migration, and metastasis of cancer cells. ( 25273169 )
2014
13
The mediator subunit Med23 contributes to controlling T-cell activation and prevents autoimmunity. ( 25301163 )
2014
14
Mediator MED23 regulates basal transcription in vivo via an interaction with P-TEFb. ( 23340209 )
2013
15
Downregulation of MED23 Promoted the Tumorigenecity of Esophageal Squamous Cell Carcinoma. ( 23625751 )
2013
16
Selective requirement for Mediator MED23 in Ras-active lung cancer. ( 22988093 )
2012
17
Mediator complex regulates alternative mRNA processing via the MED23 subunit. ( 22264826 )
2012
18
Mediator MED23 plays opposing roles in directing smooth muscle cell and adipocyte differentiation. ( 22972934 )
2012
19
Mutations in the Mediator subunit MED23 link intellectual disability to immediate early gene regulation. ( 22129135 )
2012
20
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. ( 21868677 )
2011
21
Mediator MED23 links insulin signaling to the adipogenesis transcription cascade. ( 19460352 )
2009
22
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.

GO Terms for Med23

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

# Name GO ID Score Top Affiliating Genes
1 mediator complex GO:0016592 8.8 MED12 MED13L MED17

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.56 MED12 MED13L MED17 MED23
2 androgen receptor signaling pathway GO:0030521 9.16 MED12 MED17
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.13 MED12 MED17 MED23
4 intracellular steroid hormone receptor signaling pathway GO:0030518 8.62 MED12 MED17

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.33 MED12 MED17 MED23
2 transcription coregulator activity GO:0003712 9.32 MED12 MED17
3 ligand-dependent nuclear receptor transcription coactivator activity GO:0030374 9.26 MED12 MED17
4 thyroid hormone receptor binding GO:0046966 8.96 MED12 MED17
5 vitamin D receptor binding GO:0042809 8.62 MED12 MED17

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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