DYNAP

Chr 18

dynactin associated protein

NCBI Gene: 284254 ENSG00000178690 UniProt: Q8N1N2 OMIM: 619421

DYNAP encodes a protein that promotes cell proliferation by activating the AKT1 signaling pathway through phosphorylation at serine-473, and is located at the Golgi apparatus and plasma membrane. However, no established human diseases have been definitively linked to DYNAP mutations based on the available data. The gene appears to tolerate loss-of-function variants well, with a low probability of being loss-of-function intolerant.

OMIM ResearchSummary from RefSeq, UniProt

Plays a role in the regulation of cell proliferation. Promotes activation of the AKT1 signaling pathway. Promotes phosphorylation of AKT1 at 'Ser-473'

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.73

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.73LOEUF

pLI 0.003

Z-score 0.32

OE 0.84 (0.41–1.73)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.60Z-score

OE missense 1.16 (1.00–1.34)

131 obs / 113.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.84 (0.41–1.73)

0≤0.351.4

Missense OE?1.16 (1.00–1.34)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 4 / 4.7Missense obs/exp: 131 / 113.1Syn Z: 0.57

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

301 rare PASS variants

Rare truncating (LoF)

1 in 2,600

34 rare PASS variants

Rare synonymous (reference)

1 in 470

89 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DYNAP. 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 230	1 in 4,100
South Asian	~43k	1 in 130	1 in 6,100
Remaining (unassigned)	~30k	1 in 130	1 in 2,300
European (Finnish)	~27k	1 in 390	none seen
Admixed American	~22k	1 in 150	1 in 1,800
African / African American	~21k	1 in 180	1 in 2,100
East Asian	~20k	1 in 240	none seen
Ashkenazi Jewish	~13k	1 in 380	none seen
Middle Eastern	~2,881	1 in 170	1 in 570

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): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓