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    PCNX2 pecanex 2 [ Homo sapiens (human) ]

    Gene ID: 80003, updated on 15-Jun-2019

    Summary

    Official Symbol
    PCNX2provided by HGNC
    Official Full Name
    pecanex 2provided by HGNC
    Primary source
    HGNC:HGNC:8736
    See related
    Ensembl:ENSG00000135749 MIM:617656
    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
    PCNXL2
    Summary
    This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]
    Expression
    Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 2.2) and 22 other tissues See more
    Orthologs

    Genomic context

    See PCNX2 in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (232984109..233295730, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (233119855..233431459, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373201 Neighboring gene uncharacterized LOC107985361 Neighboring gene nucleoside-triphosphatase, cancer-related Neighboring gene ribosomal protein S7 pseudogene 3 Neighboring gene mitogen-activated protein kinase kinase kinase 21 Neighboring gene RNA, U4 small nuclear 77, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    NHGRI GWA Catalog
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11383, KIAA0435

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pecanex-like protein 2
    Names
    pecanex homolog 2

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_050912.1 RefSeqGene

      Range
      5023..316600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001328607.2NP_001315536.1  pecanex-like protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in place of all but the first exon compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL133380
    2. NM_014801.4NP_055616.3  pecanex-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_055616.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK021445, AK055374, AK074078, AK097229, AL122003, AL133380, AL139342, CT004972, DR731333
      Consensus CDS
      CCDS44335.1
      UniProtKB/Swiss-Prot
      A6NKB5
      UniProtKB/TrEMBL
      B3KNZ5
      Related
      ENSP00000258229.8, ENST00000258229.14
      Conserved Domains (1) summary
      pfam05041
      Location:16191843
      Pecanex_C; Pecanex protein (C-terminus)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      232983435..233295730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002391.1XP_016857880.1  pecanex-like protein 2 isoform X1

      Conserved Domains (1) summary
      pfam05041
      Location:14161640
      Pecanex_C; Pecanex protein (C-terminus)
    2. XM_011544278.2XP_011542580.2  pecanex-like protein 2 isoform X2

    3. XM_017002392.1XP_016857881.1  pecanex-like protein 2 isoform X4

    4. XM_006711816.3XP_006711879.1  pecanex-like protein 2 isoform X3

      Conserved Domains (1) summary
      pfam07263
      Location:472641
      DMP1; Dentin matrix protein 1 (DMP1)

    RNA

    1. XR_001737429.1 RNA Sequence

    2. XR_001737431.1 RNA Sequence

    3. XR_001737430.1 RNA Sequence

    4. XR_247042.3 RNA Sequence

    5. XR_001737432.2 RNA Sequence

    6. XR_426919.3 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024938.2: Suppressed sequence

      Description
      NM_024938.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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