ABCG4

Chr 11

ATP binding cassette subfamily G member 4

Also known as: WHITE2

NCBI Gene: 64137 ENSG00000172350 UniProt: Q9H172 OMIM: 607784

The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.82

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.82LOEUF

pLI 0.000

Z-score 2.30

OE 0.53 (0.35–0.82)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

2.27Z-score

OE missense 0.68 (0.61–0.75)

267 obs / 393.7 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.53 (0.35–0.82)

0≤0.351.4

Missense OE?0.68 (0.61–0.75)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 15 / 28.2Missense obs/exp: 267 / 393.7Syn Z: 0.08

Background carrier burden — how many people carry a rare variant somewhere in ABCG4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

657 rare PASS variants

Rare truncating (LoF)

1 in 1,900

98 rare PASS variants

Rare synonymous (reference)

1 in 160

347 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ABCG4. 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 170	1 in 1,900
South Asian	~43k	1 in 80	1 in 3,300
Remaining (unassigned)	~30k	1 in 120	1 in 2,200
European (Finnish)	~27k	1 in 340	1 in 5,300
Admixed American	~22k	1 in 120	1 in 940
African / African American	~21k	1 in 75	1 in 1,800
East Asian	~20k	1 in 120	1 in 2,500
Ashkenazi Jewish	~13k	1 in 530	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 97	≈ 1 in 2,900

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.