SIDT2

Chr 11

SID1 transmembrane family member 2

Also known as: CGI-40

NCBI Gene: 51092 ENSG00000149577 UniProt: Q8NBJ9

Predicted to enable several functions, including AP-1 adaptor complex binding activity; AP-2 adaptor complex binding activity; and RNA transmembrane transporter activity. Involved in RNA transport. Located in lysosomal membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.67

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.67LOEUF

pLI 0.000

Z-score 3.50

OE 0.48 (0.35–0.67)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.95Z-score

OE missense 0.76 (0.70–0.82)

389 obs / 513.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.48 (0.35–0.67)

0≤0.351.4

Missense OE?0.76 (0.70–0.82)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 25 / 52.3Missense obs/exp: 389 / 513.5Syn Z: -1.50

Background carrier burden — how many people carry a rare variant somewhere in SIDT2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 50

1,037 rare PASS variants

Rare truncating (LoF)

1 in 920

178 rare PASS variants

Rare synonymous (reference)

1 in 90

515 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SIDT2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

Exome coverage (gnomAD): 25 of 26 coding exons well covered in gnomAD exomes; exon 20 marginal. Genomes: all 26.? see exons ↓