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    POM121L2 POM121 transmembrane nucleoporin like 2 [ Homo sapiens (human) ]

    Gene ID: 94026, updated on 27-Nov-2024

    Summary

    Official Symbol
    POM121L2provided by HGNC
    Official Full Name
    POM121 transmembrane nucleoporin like 2provided by HGNC
    Primary source
    HGNC:HGNC:13973
    See related
    Ensembl:ENSG00000158553 AllianceGenome:HGNC:13973
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POM121L; POM121-L
    Summary
    Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    NEW
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    Genomic context

    See POM121L2 in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (27308377..27312273, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (27177485..27181380, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (27276156..27280052, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene tRNA-Gln (anticodon CTG) 5-1 Neighboring gene tRNA-Ser (anticodon GCT) 2-1 Neighboring gene uncharacterized LOC105375107 Neighboring gene Sharpr-MPRA regulatory region 151 Neighboring gene vomeronasal 1 receptor 10 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17024 Neighboring gene tRNA-iMet (anticodon CAT) 1-5

    Genomic regions, transcripts, and products

    Phenotypes

    EBI GWAS Catalog

    Description
    A comprehensive family-based replication study of schizophrenia genes.
    EBI GWAS Catalog
    Common variants on chromosome 6p22.1 are associated with schizophrenia.
    EBI GWAS Catalog

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear localization sequence binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in RNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    POM121-like protein 2
    Names
    OM121 membrane glycoprotein (rat homolog)-like 2
    POM121 membrane glycoprotein (rat homolog)-like 2
    POM121 membrane glycoprotein-like 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)

    1. NM_033482.4NP_258443.2  POM121-like protein 2

      See identical proteins and their annotated locations for NP_258443.2

      Status: VALIDATED

      Source sequence(s)
      AL021808
      Consensus CDS
      CCDS59497.1
      UniProtKB/Swiss-Prot
      C9J1I7, Q96KW2
      Related
      ENSP00000392726.1, ENST00000444565.2
      Conserved Domains (1) summary
      pfam15229
      Location:164365
      POM121; POM121 family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      27308377..27312273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      27177485..27181380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_008890.1: Suppressed sequence

      Description
      NG_008890.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.