PANX1

Chr 11

pannexin 1

Also known as: MRS1, OOMD7, OZEMA7, PX1, UNQ2529

NCBI Gene: 24145 ENSG00000110218 UniProt: Q96RD7

The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOocyte/zygote/embryo maturation arrest 7

Active trials

121

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

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

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.12LOEUF

pLI 0.000

Z-score 1.22

OE 0.68 (0.42–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.42Z-score

OE missense 1.08 (0.97–1.20)

255 obs / 236.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.68 (0.42–1.12)

0≤0.351.4

Missense OE?1.08 (0.97–1.20)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 11 / 16.3Missense obs/exp: 255 / 236.7Syn Z: -0.33

Background carrier burden — how many people carry a rare variant somewhere in PANX1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

583 rare PASS variants

Rare truncating (LoF)

1 in 2,600

74 rare PASS variants

Rare synonymous (reference)

1 in 200

244 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PANX1. 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 160	1 in 3,000
South Asian	~43k	1 in 98	1 in 1,000
Remaining (unassigned)	~30k	1 in 100	1 in 3,700
European (Finnish)	~27k	1 in 510	none seen
Admixed American	~22k	1 in 110	1 in 4,500
African / African American	~21k	1 in 110	1 in 850
East Asian	~20k	1 in 140	1 in 2,500
Ashkenazi Jewish	~13k	1 in 410	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 99	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): 4 of 5 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 5.? see exons ↓