SERF2

Chr 15

small EDRK-rich factor 2

Also known as: 4F5REL, FAM2C, H4F5REL, Hero7, HsT17089

NCBI Gene: 10169 ENSG00000140264 UniProt: P84101 OMIM: 605054

Involved in protein destabilization. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Involved in protein destabilization. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.41

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.41LOEUF

pLI 0.023

Z-score 0.95

OE 0.56 (0.25–1.41)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.23Z-score

OE missense 0.94 (0.79–1.11)

95 obs / 101.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.56 (0.25–1.41)

0≤0.351.4

Missense OE?0.94 (0.79–1.11)

0≤0.61.4

Synonymous OE?0.82

0≤1.21.6

LoF obs/exp: 3 / 5.4Missense obs/exp: 95 / 101.4Syn Z: 0.92

Background carrier burden — how many people carry a rare variant somewhere in SERF2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

351 rare PASS variants

Rare truncating (LoF)

1 in 1,700

71 rare PASS variants

Rare synonymous (reference)

1 in 660

102 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SERF2. 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 310	1 in 3,100
South Asian	~43k	1 in 200	1 in 290
Remaining (unassigned)	~30k	1 in 150	1 in 1,300
European (Finnish)	~27k	1 in 230	≈ 1 in 6,100
Admixed American	~22k	1 in 130	1 in 2,400
African / African American	~21k	1 in 180	1 in 280
East Asian	~20k	1 in 260	1 in 1,700
Ashkenazi Jewish	~13k	1 in 540	≈ 1 in 5,900
Middle Eastern	~2,884	1 in 210	≈ 1 in 650

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