SLC39A5

Chr 12

solute carrier family 39 member 5

Also known as: LZT-Hs7, MYP24, ZIP5

The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyopia 24, autosomal dominant
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.20
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.000
Z-score 0.83
OE 0.81 (0.561.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.96 (0.881.06)
310 obs / 322.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.81 (0.561.20)
00.351.4
Missense OE?0.96 (0.881.06)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 18 / 22.2Missense obs/exp: 310 / 322.0Syn Z: 0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC39A5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →