MED19

Chr 11

mediator complex subunit 19

Also known as: DT2P1G7, LCMR1, MED19AS

NCBI Gene: 219541 ENSG00000156603 UniProt: A0JLT2 OMIM: 612385

The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in MED19?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 300

325 rare PASS variants

Rare truncating (LoF)

1 in 13,000

22 rare PASS variants

Rare synonymous (reference)

1 in 540

153 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MED19. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 320	1 in 8,600
South Asian	~43k	1 in 220	≈ 1 in 43,000
Remaining (unassigned)	~30k	1 in 290	≈ 1 in 28,000
European (Finnish)	~27k	1 in 1,200	none seen
Admixed American	~22k	1 in 240	none seen
African / African American	~21k	1 in 180	≈ 1 in 7,900
East Asian	~20k	1 in 430	none seen
Ashkenazi Jewish	~13k	1 in 2,300	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 160	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 5 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: 4 of 5 (exon 3 below).? see exons ↓