DISP2

Chr 15

dispatched RND transporter family member 2

Also known as: C15orf36, DISPB, HsT16908, LINC00594

NCBI Gene: 85455 ENSG00000140323 UniProt: A7MBM2 OMIM: 607503

This gene is one of two human homologs of a segment-polarity gene known as dispatched identified in Drosophila. The product of this gene may be required for normal Hedgehog (Hh) signaling during embryonic pattern formation. [provided by RefSeq, Jan 2017]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.41

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.41LOEUF

pLI 0.199

Z-score 4.57

OE 0.24 (0.15–0.41)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.91Z-score

OE missense 0.91 (0.85–0.97)

731 obs / 803.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.24 (0.15–0.41)

0≤0.351.4

Missense OE?0.91 (0.85–0.97)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 10 / 41.9Missense obs/exp: 731 / 803.7Syn Z: -0.62

Background carrier burden — how many people carry a rare variant somewhere in DISP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 33

1,867 rare PASS variants

Rare truncating (LoF)

1 in 1,100

165 rare PASS variants

Rare synonymous (reference)

1 in 54

884 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DISP2. 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 42	1 in 1,200
South Asian	~43k	1 in 26	1 in 990
Remaining (unassigned)	~30k	1 in 27	1 in 1,200
European (Finnish)	~27k	1 in 82	1 in 500
Admixed American	~22k	1 in 35	1 in 1,600
African / African American	~21k	1 in 21	1 in 1,500
East Asian	~20k	1 in 32	1 in 3,100
Ashkenazi Jewish	~13k	1 in 74	1 in 1,800
Middle Eastern	~2,884	1 in 29	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): 7 of 8 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 8.? see exons ↓