PANX2

pannexin 2, the group of Pannexins

Basic information

Region (hg38): 22:50170731-50180295

Links

ENSG00000073150 ∙ NCBI:56666 ∙ OMIM:608421 ∙ HGNC:8600 ∙ Uniprot:Q96RD6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PANX2 gene.

• not_specified (82 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PANX2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052839.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			76	5		81
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PANX2	protein_coding	protein_coding	ENST00000395842	3	9564

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000442	0.639	125380	0	93	125473	0.000371

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.35	238	434	0.548	0.0000331	4257
Missense in Polyphen		70	200.53	0.34907		1957
Synonymous	0.894	205	222	0.924	0.0000195	1457
Loss of Function	0.964	10	13.9	0.721	5.95e-7	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00148	0.00141
Ashkenazi Jewish	0.000103	0.0000995
East Asian	0.00269	0.00267
Finnish	0.00	0.00
European (Non-Finnish)	0.000149	0.000141
Middle Eastern	0.00269	0.00267
South Asian	0.0000992	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Structural component of the gap junctions and the hemichannels. {ECO:0000250}.
• Pathway: Electric Transmission Across Gap Junctions;Transmission across Electrical Synapses ;Neuronal System (Consensus)

Recessive Scores

• pRec: 0.113

Haploinsufficiency Scores

• pHI: 0.217
• hipred: N
• hipred_score: 0.490
• ghis: 0.660

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.178

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Panx2
• Phenotype: homeostasis/metabolism phenotype; skeleton phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: response to ischemia;cation transport;cell-cell signaling;protein hexamerization;positive regulation of interleukin-1 secretion;transmembrane transport
• Cellular component: cytoplasm;plasma membrane;gap junction;integral component of membrane
• Molecular function: wide pore channel activity;gap junction hemi-channel activity