SLC35G2

Chr 3

solute carrier family 35 member G2

Also known as: TMEM22

NCBI Gene: 80723 ENSG00000168917 UniProt: Q8TBE7 OMIM: 617812

Located in Golgi apparatus; plasma membrane; and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Located in Golgi apparatus; plasma membrane; and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.85LOEUF

pLI 0.040

Z-score 1.91

OE 0.37 (0.18–0.85)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.42Z-score

OE missense 0.92 (0.82–1.03)

195 obs / 212.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.37 (0.18–0.85)

0≤0.351.4

Missense OE?0.92 (0.82–1.03)

0≤0.61.4

Synonymous OE?0.89

0≤1.21.6

LoF obs/exp: 4 / 10.8Missense obs/exp: 195 / 212.4Syn Z: 0.74

Background carrier burden — how many people carry a rare variant somewhere in SLC35G2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

451 rare PASS variants

Rare truncating (LoF)

1 in 1,700

68 rare PASS variants

Rare synonymous (reference)

1 in 240

158 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC35G2. 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 140	1 in 2,200
South Asian	~43k	1 in 93	1 in 2,700
Remaining (unassigned)	~30k	1 in 130	1 in 1,000
European (Finnish)	~27k	1 in 220	1 in 1,000
Admixed American	~22k	1 in 110	1 in 2,500
African / African American	~21k	1 in 100	1 in 470
East Asian	~20k	1 in 130	1 in 580
Ashkenazi Jewish	~13k	1 in 1,100	1 in 1,500
Middle Eastern	~2,884	1 in 120	≈ 1 in 960

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 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓