SECISBP2L

Chr 15

SECIS binding protein 2 like

Also known as: SBP2L, SLAN

NCBI Gene: 9728 ENSG00000138593 UniProt: Q93073 OMIM: 615756

Enables RNA binding activity. Predicted to be involved in selenocysteine incorporation. Predicted to be part of ribonucleoprotein complex. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

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

0.37

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.37LOEUF

pLI 0.285

Z-score 5.14

OE 0.23 (0.15–0.37)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.53Z-score

OE missense 0.82 (0.76–0.88)

455 obs / 556.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.23 (0.15–0.37)

0≤0.351.4

Missense OE?0.82 (0.76–0.88)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 12 / 52.0Missense obs/exp: 455 / 556.9Syn Z: -0.19

Background carrier burden — how many people carry a rare variant somewhere in SECISBP2L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 63

1,230 rare PASS variants

Rare truncating (LoF)

1 in 1,400

118 rare PASS variants

Rare synonymous (reference)

1 in 96

473 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SECISBP2L. 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 83	1 in 1,700
South Asian	~43k	1 in 60	1 in 1,100
Remaining (unassigned)	~30k	1 in 49	1 in 1,700
European (Finnish)	~27k	1 in 230	1 in 1,700
Admixed American	~22k	1 in 45	1 in 1,900
African / African American	~21k	1 in 60	1 in 1,000
East Asian	~20k	1 in 55	1 in 2,400
Ashkenazi Jewish	~13k	1 in 180	1 in 2,100
Middle Eastern	~2,884	1 in 76	1 in 390

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 16 of 18 coding exons well covered in gnomAD exomes; exons 8, 9 marginal. Genomes: all 18.? see exons ↓