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    C22orf39 chromosome 22 open reading frame 39 [ Homo sapiens (human) ]

    Gene ID: 128977, updated on 17-Jun-2024

    Summary

    Official Symbol
    C22orf39provided by HGNC
    Official Full Name
    chromosome 22 open reading frame 39provided by HGNC
    Primary source
    HGNC:HGNC:27012
    See related
    Ensembl:ENSG00000242259 AllianceGenome:HGNC:27012
    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
    Pants
    Expression
    Ubiquitous expression in fat (RPKM 8.1), thyroid (RPKM 7.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See C22orf39 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19440886..19447711, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19817716..19824539, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19428409..19435234, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene histone cell cycle regulator Neighboring gene RNA, 7SL, cytoplasmic 168, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18658 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:19418111-19418858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13460 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:19434430-19435332 Neighboring gene mitochondrial ribosomal protein L40 Neighboring gene UFD1 antisense RNA 1 Neighboring gene ubiquitin recognition factor in ER associated degradation 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13463 Neighboring gene cell division cycle 45 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19486137-19486353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19493394-19493894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19493895-19494395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19502006-19502506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19502507-19503007

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC74441, DKFZp686I08210

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic cleft ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    synaptic plasticity regulator PANTS
    Names
    Plasticity Associated Neural Transcript
    UPF0545 protein C22orf39

    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_001166242.2NP_001159714.2  synaptic plasticity regulator PANTS isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC000068
      Consensus CDS
      CCDS54498.2
      Related
      ENSP00000382478.1, ENST00000399568.5
      Conserved Domains (1) summary
      pfam11326
      Location:1364
      DUF3128; Protein of unknown function (DUF3128)
    2. NM_173793.5NP_776154.4  synaptic plasticity regulator PANTS isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC000068
      Consensus CDS
      CCDS33599.3
      UniProtKB/Swiss-Prot
      A0A075B6P1, A8MTW6, D3DX18, F5H3A8, J3KNP9, Q6P5X5
      Related
      ENSP00000382474.5, ENST00000399562.9
      Conserved Domains (1) summary
      pfam11326
      Location:1388
      DUF3128; Protein of unknown function (DUF3128)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      19440886..19447711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19817716..19824539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)