FAM162A

Chr 3

family with sequence similarity 162 member A

Also known as: C3orf28, E2IG5, HGTD-P

NCBI Gene: 26355 ENSG00000114023 UniProt: Q96A26 OMIM: 608017

The FAM162A protein regulates apoptosis by promoting cytochrome c release from mitochondria and is involved in hypoxia-induced cell death pathways. Mutations cause autosomal recessive neurodegeneration, though detailed phenotypic descriptions are limited in current literature. The gene shows tolerance to loss-of-function variants (low constraint), which is consistent with recessive inheritance.

OMIM ResearchSummary from RefSeq, UniProt

Involved in cellular response to hypoxia; positive regulation of apoptotic process; and positive regulation of release of cytochrome c from mitochondria. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.52

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.52LOEUF

pLI 0.000

Z-score 0.36

OE 0.88 (0.53–1.52)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.60Z-score

OE missense 0.82 (0.67–1.00)

68 obs / 83.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.88 (0.53–1.52)

0≤0.351.4

Missense OE?0.82 (0.67–1.00)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 9 / 10.2Missense obs/exp: 68 / 83.4Syn Z: 0.78

Background carrier burden — how many people carry a rare variant somewhere in FAM162A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 200

217 rare PASS variants

Rare truncating (LoF)

1 in 820

58 rare PASS variants

Rare synonymous (reference)

1 in 1,600

69 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM162A; this gene does not show strong loss-of-function constraint by this measure. 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 1,900
South Asian	~43k	1 in 210	1 in 1,200
Remaining (unassigned)	~30k	1 in 120	1 in 2,500
European (Finnish)	~27k	1 in 430	≈ 1 in 27,000
Admixed American	~22k	1 in 170	1 in 2,200
African / African American	~21k	1 in 150	1 in 1,100
East Asian	~20k	1 in 320	1 in 1,100
Ashkenazi Jewish	~13k	1 in 620	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 150	≈ 1 in 2,800

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): 4 of 5 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: all 5.? see exons ↓