MED23 Chromosome 6
Mediator complex subunit 23
Upload your DNA to see your personal genotypes for variants in MED23.
What This Gene Does
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. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
Mediator complex
Locus Type
gene with protein product
Location
6q23.2
Ensembl
ENSG00000112282
Associated Conditions (13)
Intellectual disability
autosomal recessive 18
Inborn genetic diseases
MED23-related disorder
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma
Thymoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Acute myeloid leukemia
Neurodevelopmental disorder
Key Variants
RS138742804
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 18, Inborn genetic diseases
Health Risk
RS527236036
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 18, Intellectual disability
Health Risk
RS750247163
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 18, Acute myeloid leukemia
Health Risk
RS753015353
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 18, Intellectual disability
Health Risk
RS766478634
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 18, Neurodevelopmental disorder
Health Risk
RS1324734688
Likely pathogenic
Health Risk
RS1554257255
Likely pathogenic
Health Risk
RS1562370843
Likely pathogenic
Health Risk
RS1775982467
Likely pathogenic
Intellectual disability, autosomal recessive 18, Intellectual disability
Health Risk
RS1776174152
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2482512930
Likely pathogenic
Health Risk
RS370667926
Likely pathogenic
Intellectual disability, autosomal recessive 18, Intellectual disability
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138742804 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 18, Inborn genetic diseases |
| RS527236036 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS750247163 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 18, Acute myeloid leukemia |
| RS753015353 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS766478634 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 18, Neurodevelopmental disorder |
| RS1324734688 | Health Risk | Likely pathogenic | — |
| RS1554257255 | Health Risk | Likely pathogenic | — |
| RS1562370843 | Health Risk | Likely pathogenic | — |
| RS1775982467 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS1776174152 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2482512930 | Health Risk | Likely pathogenic | — |
| RS370667926 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS755148992 | Health Risk | Likely pathogenic | — |
| RS760262127 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS786205583 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS878853110 | Health Risk | Likely pathogenic | — |
| RS1064796306 | Health Risk | Pathogenic | — |
| RS1293450628 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS2114757071 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS2482798077 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS527236035 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS569927513 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS745997916 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS771485728 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 18, Intellectual disability |
| RS769471341 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 18, MED23-related disorder |