GARIN5A

Chr 19

golgi associated RAB2 interactor 5A

Also known as: FAM71E1, GARIL5

NCBI Gene: 112703 ENSG00000142530 UniProt: Q6IPT2

Predicted to be involved in defense response to virus; innate immune response; and positive regulation of type I interferon production. Predicted to act upstream of or within several processes, including flagellated sperm motility; penetration of zona pellucida; and spermatid development. Predicted to be located in Golgi apparatus. Predicted to be active in sperm head. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.58

LOEUF

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?

1.58LOEUF

pLI 0.000

Z-score 0.45

OE 0.82 (0.45–1.58)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.04Z-score

OE missense 1.01 (0.89–1.15)

158 obs / 156.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.82 (0.45–1.58)

0≤0.351.4

Missense OE?1.01 (0.89–1.15)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 6 / 7.3Missense obs/exp: 158 / 156.7Syn Z: 0.31

Background carrier burden — how many people carry a rare variant somewhere in GARIN5A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

403 rare PASS variants

Rare truncating (LoF)

1 in 1,500

61 rare PASS variants

Rare synonymous (reference)

1 in 170

176 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GARIN5A. 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 240	1 in 1,200
South Asian	~43k	1 in 79	1 in 3,800
Remaining (unassigned)	~30k	1 in 110	1 in 440
European (Finnish)	~27k	1 in 600	1 in 760
Admixed American	~22k	1 in 120	1 in 1,400
African / African American	~21k	1 in 130	1 in 1,500
East Asian	~20k	1 in 190	1 in 2,800
Ashkenazi Jewish	~13k	1 in 310	none seen
Middle Eastern	~2,884	1 in 160	1 in 480

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