PANX3 pannexin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PANX3provided by HGNC
Official Full Name: pannexin 3provided by HGNC
Primary source: HGNC:HGNC:20573
See related: Ensembl:ENSG00000154143 MIM:608422; AllianceGenome:HGNC:20573
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: PX3
Summary: The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (124611428..124620356)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (124640092..124649020)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (124481324..124490252)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Noncoding rare variants in PANX3 are associated with chronic back pain.
Title: Noncoding rare variants in PANX3 are associated with chronic back pain.
Influence of the three-dimensional culture of human bone marrow mesenchymal stromal cells within a macroporous polysaccharides scaffold on Pannexin 1 and Pannexin 3.
Title: Influence of the three-dimensional culture of human bone marrow mesenchymal stromal cells within a macroporous polysaccharides scaffold on Pannexin 1 and Pannexin 3.
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.
Panx3 was upregulated during osteogenic differentiation in a time-dependent manner. Panx3 overexpression promoted osteogenic differentiation of human dental pulp-derived mesenchymal stromal cells, whereas depletion of Panx3 resulted in a decline of differentiation.
Title: The Role of Pannexin3-Modified Human Dental Pulp-Derived Mesenchymal Stromal Cells in Repairing Rat Cranial Critical-Sized Bone Defects.
Panx3 channels regulate the proliferation, differentiation, and fusion of skeletal muscle myoblasts. (Review)
Title: Regulation of Skeletal Muscle Myoblast Differentiation and Proliferation by Pannexins.
Panx3 has a defensive role in dental pulp inflammation.
Title: Pannexin3 inhibits TNF-α-induced inflammatory response by suppressing NF-κB signalling pathway in human dental pulp cells.
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.
Case Report: osteosarcomatous transformation of axillary sweat gland neoplasm with high PANX3 expression.
Title: High Relative Expression of Pannexin 3 (PANX3) in an Axillary Sweat Gland Carcinoma With Osteosarcomatous Transformation.
Panx3 hemichannel is expressed in human odontoblast-like cells and mediates ATP release into the extracellular space.
Title: Expression of Pannexin3 in human odontoblast-like cells and its hemichannel function in mediating ATP release.
Panx1 and Panx3 are co-expressed in human skeletal muscle myoblasts and play a pivotal role in dictating the proliferation and differentiation.
Title: Pannexin 1 and pannexin 3 channels regulate skeletal muscle myoblast proliferation and differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

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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Markers

RH99055 (e-PCR)
- UniSTS:89175

NoName (e-PCR)
- UniSTS:484083

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
NOT enables gap junction hemi-channel activity	ISS Inferred from Sequence or Structural Similarity more info
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

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-1 production	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in gap junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: pannexin-3

Names: gap junction protein pannexin 3

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.