PANX2 pannexin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PANX2provided by HGNC
Official Full Name: pannexin 2provided by HGNC
Primary source: HGNC:HGNC:8600
See related: Ensembl:ENSG00000073150 MIM:608421; AllianceGenome:HGNC:8600
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PX2; hPANX2
Summary: 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 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Expression: Broad expression in brain (RPKM 3.4), kidney (RPKM 1.1) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (50170731..50180295)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (50677468..50687032)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (50609160..50618724)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PANX2 and brain lower grade glioma genesis: A bioinformatic analysis.
Title: PANX2 and brain lower grade glioma genesis: A bioinformatic analysis.
Pannexin-2, a novel mitochondrial-associated membrane protein, may become the new strategy to treat and prevent neurological disorders.
Title: Pannexin-2, a novel mitochondrial-associated membrane protein, may become the new strategy to treat and prevent neurological disorders.
The Role of miR-342 in Vascular Health. Study in Subclinical Cardiovascular Disease in Mononuclear Cells, Plasma, Inflammatory Cytokines and PANX2.
Title: The Role of miR-342 in Vascular Health. Study in Subclinical Cardiovascular Disease in Mononuclear Cells, Plasma, Inflammatory Cytokines and <i>PANX2</i>.
The pannexin 2 (Panx2) N86Q mutant is glycosylation-deficient and tends to aggregate in the endoplasmic reticulum (ER)reducing its cell surface trafficking but it can still interact with pannexin 1 (Panx1).
Title: N-Glycosylation Regulates Pannexin 2 Localization but Is Not Required for Interacting with Pannexin 1.
All three pannexins Panx1, Panx2, and Panx3 mRNAs were expressed in all of the analyzed undifferentiated stem cell lines.
Title: Human stem cells express pannexins.
Panx2 mRNA and protein levels were only upregulated in focal cortical dysplasia type IIb lesions of intractable epilepsy patients and characteristically expressed on SOX2-positive multipotential balloon cells.
Title: Expression of pannexin 1 and 2 in cortical lesions from intractable epilepsy patients with focal cortical dysplasia.
Panx2 is an important regulator of the insulin secretory capacity and apoptosis in pancreatic beta-cells.
Title: Pannexin-2-deficiency sensitizes pancreatic β-cells to cytokine-induced apoptosis in vitro and impairs glucose tolerance in vivo.
The results of this study do not support a major contribution of PANX1-3 to disease risk of schizophrenia according to DSM-5.
Title: The role of Pannexin gene variants in schizophrenia: systematic analysis of phenotypes.
There is dense expression of Panx2 in the enteric nervous system. The substantial increase in Panx2 mRNA in ulcerative colitis (UC) muscle but not protein suggests that the Panx2 translation process may be disrupted in UC.
Title: Pannexin-2 is expressed in the human colon with extensive localization in the enteric nervous system.
Data suggest that both up-regulation and down-regulation of expression of pannexins (PANX1, PANX2, PANX3) are associated with disease onset and/or progression; examples include neoplasms, multiple sclerosis, migraine, and hypertension. [REVIEW]
Title: Pannexin channels and their links to human disease.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the PANX2 gene: The PANX2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 435 organisms have orthologs with human gene PANX2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables gap junction hemi-channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables structural molecule activity	ISS Inferred from Sequence or Structural Similarity more info
enables wide pore channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in cation transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of interleukin-1 production	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in gap junction	IEA Inferred from Electronic Annotation more info
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: pannexin-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001160300.2 → NP_001153772.1 pannexin-2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as PANX2alt1, lacks an alternate segment in the 3' coding region resulting in a frameshift, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF398510, AK123508, BU734128, DA116770

Consensus CDS

CCDS54544.1

UniProtKB/Swiss-Prot

Q96RD6

Related

ENSP00000159647.5, ENST00000159647.9

Conserved Domains (1) summary

cl03000
Location:51 → 160

Innexin; Innexin
NM_052839.4 → NP_443071.2 pannexin-2 isoform 1

See identical proteins and their annotated locations for NP_443071.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AK096019, AK123508, BC101023, BU732466, DA127683

Consensus CDS

CCDS14085.2

UniProtKB/Swiss-Prot

Q96RD6

UniProtKB/TrEMBL

B3KTT7, Q495U3

Related

ENSP00000379183.2, ENST00000395842.3

Conserved Domains (1) summary

cl03000
Location:51 → 160

Innexin; Innexin

RNA

NR_027691.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as PANX2alt2, includes an alternate exon and lacks an alternate segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF398511, AK123508, BU734128, DA116770