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    PANX2 pannexin 2 [ Homo sapiens (human) ]

    Gene ID: 56666, updated on 12-Nov-2024

    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
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    Genomic context

    See PANX2 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50170731..50180295)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50677468..50687032)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50609160..50618724)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50510246-50511128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50511129-50512010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50512330-50512836 Neighboring gene modulator of VRAC current 1 Neighboring gene Sharpr-MPRA regulatory region 9327 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:50523503-50524127 Neighboring gene Mov10 like RNA helicase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19297 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50578307-50578491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50604117-50604668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50609993-50610685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50622054-50622629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50628084-50628698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50628699-50629313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13956 Neighboring gene TraB domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19306 Neighboring gene TRABD antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50644205-50644771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50644772-50645337 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50645905-50646469 Neighboring gene SELENOO antisense RNA 1 Neighboring gene selenoprotein O

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC119432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables gap junction hemi-channel activity  
    enables structural molecule activity  
    enables wide pore channel activity  
    Process Evidence Code Pubs
    involved_in cell-cell signaling  
    involved_in monoatomic cation transport  
    involved_in monoatomic ion transmembrane transport  
    involved_in positive regulation of interleukin-1 production  
    involved_in response to ischemia  
    Component Evidence Code Pubs
    located_in Golgi membrane  
    located_in endoplasmic reticulum membrane  
    is_active_in plasma membrane  
    located_in plasma membrane  
    located_in plasma membrane  

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001160300.2NP_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/TrEMBL
      B3KTT7
      Related
      ENSP00000159647.5, ENST00000159647.9
      Conserved Domains (1) summary
      cl03000
      Location:51160
      Innexin; Innexin
    2. NM_052839.4NP_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
      B7Z684, Q96RD5, Q96RD6, Q9UGX8
      UniProtKB/TrEMBL
      B3KTT7
      Related
      ENSP00000379183.2, ENST00000395842.3
      Conserved Domains (2) summary
      PRK11633
      Location:387468
      PRK11633; cell division protein DedD; Provisional
      cl03000
      Location:58150
      Innexin

    RNA

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50170731..50180295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441448.1XP_047297404.1  pannexin-2 isoform X1

      UniProtKB/TrEMBL
      Q6ICA1
    2. XM_047441449.1XP_047297405.1  pannexin-2 isoform X1

      UniProtKB/TrEMBL
      Q6ICA1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      50677468..50687032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325801.1XP_054181776.1  pannexin-2 isoform X1

      UniProtKB/TrEMBL
      Q6ICA1
    2. XM_054325802.1XP_054181777.1  pannexin-2 isoform X1

      UniProtKB/TrEMBL
      Q6ICA1
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