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    IGSF22 immunoglobulin superfamily member 22 [ Homo sapiens (human) ]

    Gene ID: 283284, updated on 17-Sep-2024

    Summary

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    Official Symbol
    IGSF22provided by HGNC
    Official Full Name
    immunoglobulin superfamily member 22provided by HGNC
    Primary source
    HGNC:HGNC:26750
    See related
    Ensembl:ENSG00000179057 AllianceGenome:HGNC:26750
    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
    IGFN2
    Expression
    Broad expression in kidney (RPKM 2.8), skin (RPKM 1.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IGSF22 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18704312..18726188, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18802367..18824226, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18725859..18747735, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4507 Neighboring gene uncharacterized LOC105376578 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:18670593-18671313 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:18671314-18672033 Neighboring gene MPRA-validated peak1228 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18690003-18690504 Neighboring gene SRSF3 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:18720033-18720534 Neighboring gene IGSF22 antisense RNA 1 Neighboring gene transmembrane protein 86A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4511 Neighboring gene protein tyrosine phosphatase non-receptor type 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:18770656-18771538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18783056-18783556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18783557-18784057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18792057-18792558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18792559-18793058 Neighboring gene Sharpr-MPRA regulatory region 5421 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:18819993-18821192 Neighboring gene MAS related GPR family member X8, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37794

    General protein information

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    Preferred Names
    immunoglobulin superfamily member 22

    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_173588.4 → NP_775859.4  immunoglobulin superfamily member 22

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC103974
      Consensus CDS
      CCDS41625.2
      Related
      ENSP00000421191.1, ENST00000513874.6

    RNA

    1. NR_160413.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC103974
      Related
      ENST00000319338.6

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      18704312..18726188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426830.1 → XP_047282786.1  immunoglobulin superfamily member 22 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      18802367..18824226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368545.1 → XP_054224520.1  immunoglobulin superfamily member 22 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9C0.2 GenPept UniProtKB/Swiss-Prot:Q8N9C0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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