SLC35F2

Chr 11

solute carrier family 35 member F2

Also known as: HSNOV1

NCBI Gene: 54733 ENSG00000110660 UniProt: Q8IXU6 OMIM: 620350

Enables choline transmembrane transporter activity. Involved in choline transport and tRNA queuosine(34) biosynthetic process from salvaged queuine. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.96

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.96LOEUF

pLI 0.000

Z-score 1.67

OE 0.53 (0.31–0.96)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.42Z-score

OE missense 0.91 (0.80–1.04)

167 obs / 183.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.53 (0.31–0.96)

0≤0.351.4

Missense OE?0.91 (0.80–1.04)

0≤0.61.4

Synonymous OE?1.20

0≤1.21.6

LoF obs/exp: 8 / 15.0Missense obs/exp: 167 / 183.1Syn Z: -1.33

Background carrier burden — how many people carry a rare variant somewhere in SLC35F2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

465 rare PASS variants

Rare truncating (LoF)

1 in 1,100

80 rare PASS variants

Rare synonymous (reference)

1 in 250

162 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC35F2. 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 220	1 in 1,000
South Asian	~43k	1 in 120	1 in 1,700
Remaining (unassigned)	~30k	1 in 93	1 in 1,300
European (Finnish)	~27k	1 in 310	1 in 4,400
Admixed American	~22k	1 in 130	1 in 1,900
African / African American	~21k	1 in 100	1 in 1,400
East Asian	~20k	1 in 79	1 in 2,100
Ashkenazi Jewish	~13k	1 in 670	1 in 550
Middle Eastern	~2,884	1 in 140	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 ↓