MESP1

Chr 15

mesoderm posterior bHLH transcription factor 1

Also known as: bHLHc5

NCBI Gene: 55897 ENSG00000166823 UniProt: Q9BRJ9 OMIM: 608689

MESP1 encodes a transcription factor that regulates heart development and somite patterning during embryogenesis. The gene shows low constraint to loss-of-function variation (pLI ~0, LOEUF 1.94), and while it has been implicated in myocardial infarction susceptibility, definitive Mendelian disease associations have not been established in the provided data.

OMIM ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in several processes, including endothelial cell differentiation; heart development; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Implicated in myocardial infarction. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Moderate · congenital heart disease · AD · ClinGen 2024

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

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 MESP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 54

516 rare PASS variants

Rare truncating (LoF)

1 in 270

95 rare PASS variants

Rare synonymous (reference)

1 in 270

232 rare PASS variants

Rare missense and truncating variants are carried at similar rates in MESP1; this gene does not show strong loss-of-function constraint by this measure. 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 110	1 in 340
South Asian	~43k	1 in 75	1 in 980
Remaining (unassigned)	~30k	1 in 71	1 in 430
European (Finnish)	~27k	1 in 430	1 in 1,800
Admixed American	~22k	1 in 83	1 in 1,300
African / African American	~21k	1 in 130	1 in 330
East Asian	~20k	1 in 91	1 in 1,600
Ashkenazi Jewish	~13k	1 in 560	1 in 1,300
Middle Eastern	~2,884	1 in 57	1 in 450

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.