MED17 Chromosome 11
Mediator complex subunit 17
Upload your DNA to see your personal genotypes for variants in MED17.
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mediator complex
Locus Type
gene with protein product
Location
11q21
Ensembl
ENSG00000042429
Associated Conditions (7)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
MED17-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Microcephaly
Ovarian serous cystadenocarcinoma
Intellectual disability
Key Variants
RS116727804
Conflicting classifications of pathogenicity
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, MED17-related disorder, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Health Risk
RS199995347
Conflicting classifications of pathogenicity
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, MED17-related disorder, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Health Risk
RS35313315
Conflicting classifications of pathogenicity
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Health Risk
RS369349413
Conflicting classifications of pathogenicity
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Inborn genetic diseases, Uterine corpus endometrial carcinoma
Health Risk
RS548231700
Conflicting classifications of pathogenicity
Microcephaly, MED17-related disorder, Microcephaly
Health Risk
RS570654786
Conflicting classifications of pathogenicity
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, MED17-related disorder, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Health Risk
RS587780394
Conflicting classifications of pathogenicity
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Health Risk
RS61754525
Conflicting classifications of pathogenicity
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Ovarian serous cystadenocarcinoma, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Health Risk
RS745733410
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749506103
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752341132
Conflicting classifications of pathogenicity
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Health Risk
RS761959231
Conflicting classifications of pathogenicity
Intellectual disability, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Inborn genetic diseases
Health Risk
All Variants (74)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116727804 | Health Risk | Conflicting classifications of pathogenicity | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, MED17-related disorder, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS199995347 | Health Risk | Conflicting classifications of pathogenicity | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, MED17-related disorder, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS35313315 | Health Risk | Conflicting classifications of pathogenicity | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS369349413 | Health Risk | Conflicting classifications of pathogenicity | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Inborn genetic diseases, Uterine corpus endometrial carcinoma |
| RS548231700 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, MED17-related disorder, Microcephaly |
| RS570654786 | Health Risk | Conflicting classifications of pathogenicity | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, MED17-related disorder, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS587780394 | Health Risk | Conflicting classifications of pathogenicity | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS61754525 | Health Risk | Conflicting classifications of pathogenicity | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Ovarian serous cystadenocarcinoma, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS745733410 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749506103 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752341132 | Health Risk | Conflicting classifications of pathogenicity | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS761959231 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Inborn genetic diseases |
| RS769907044 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1194234452 | Health Risk | Likely pathogenic | — |
| RS1220794170 | Health Risk | Likely pathogenic | — |
| RS1289819331 | Health Risk | Likely pathogenic | — |
| RS1299335718 | Health Risk | Likely pathogenic | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS1359164384 | Health Risk | Likely pathogenic | — |
| RS150996424 | Health Risk | Likely pathogenic | — |
| RS1943919610 | Health Risk | Likely pathogenic | — |
| RS1943967240 | Health Risk | Likely pathogenic | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS2135721573 | Health Risk | Likely pathogenic | — |
| RS2497512441 | Health Risk | Likely pathogenic | — |
| RS2497512444 | Health Risk | Likely pathogenic | — |
| RS2497522036 | Health Risk | Likely pathogenic | — |
| RS2497522528 | Health Risk | Likely pathogenic | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS2497527392 | Health Risk | Likely pathogenic | — |
| RS2497527611 | Health Risk | Likely pathogenic | — |
| RS757890568 | Health Risk | Likely pathogenic | — |
| RS767023414 | Health Risk | Likely pathogenic | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| RS1279022230 | Health Risk | Pathogenic | — |
| RS1357595604 | Health Risk | Pathogenic | — |
| RS1382504729 | Health Risk | Pathogenic | — |
| RS1392631759 | Health Risk | Pathogenic | — |
| RS140719424 | Health Risk | Pathogenic | — |
| RS1441655868 | Health Risk | Pathogenic | — |
| RS1486747361 | Health Risk | Pathogenic | — |
| RS1943789061 | Health Risk | Pathogenic | — |
| RS1943789103 | Health Risk | Pathogenic | — |
| RS1943868758 | Health Risk | Pathogenic | — |
| RS1943871666 | Health Risk | Pathogenic | — |
| RS1943967317 | Health Risk | Pathogenic | — |
| RS1944040055 | Health Risk | Pathogenic | — |
| RS2135707160 | Health Risk | Pathogenic | — |
| RS2135713786 | Health Risk | Pathogenic | — |
| RS2135713875 | Health Risk | Pathogenic | — |
| RS2135714806 | Health Risk | Pathogenic | — |
| RS2135714832 | Health Risk | Pathogenic | — |
| RS2135715560 | Health Risk | Pathogenic | — |
| RS2135717849 | Health Risk | Pathogenic | — |