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    SPANXN4 SPANX family member N4 [ Homo sapiens (human) ]

    Gene ID: 441525, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SPANXN4provided by HGNC
    Official Full Name
    SPANX family member N4provided by HGNC
    Primary source
    HGNC:HGNC:33177
    See related
    Ensembl:ENSG00000189326 MIM:300667; AllianceGenome:HGNC:33177
    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
    CT11.9
    Summary
    This gene represents one of several duplicated family members that are located on the X chromosome. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, Sep 2009]
    Expression
    Restricted expression toward testis (RPKM 3.2) See more
    Orthologs
    all
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    Genomic context

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    Location:
    Xq27.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (143025928..143038637)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (141334566..141347275)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (142113714..142122097)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373345 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:141891706-141892905 Neighboring gene small nucleolar RNA U13 Neighboring gene RN7SK pseudogene 81 Neighboring gene NANOG hESC enhancer GRCh37_chrX:142252945-142253661 Neighboring gene RN7SK pseudogene 149

    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
    • 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. Hominoid-specific SPANXA/D genes demonstrate differential expression in individuals and protein localization to a distinct nuclear envelope domain during spermatid morphogenesis. Westbrook VA, et al. Mol Hum Reprod, 2006 Nov. PMID 17012309
    2. The SPANX gene family of cancer/testis-specific antigens: rapid evolution and amplification in African great apes and hominids. Kouprina N, et al. Proc Natl Acad Sci U S A, 2004 Mar 2. PMID 14973187, Free PMC Article
    3. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. 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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    General protein information

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    Preferred Names
    sperm protein associated with the nucleus on the X chromosome N4
    Names
    cancer/testis antigen family 11, member 9
    nuclear-associated protein SPAN-Xn4

    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.

    Genomic

    1. NG_013264.1 RefSeqGene

      Range
      5011..13394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001009613.4 → NP_001009613.1  sperm protein associated with the nucleus on the X chromosome N4

      See identical proteins and their annotated locations for NP_001009613.1

      Status: REVIEWED

      Source sequence(s)
      AL137840, BC130503
      Consensus CDS
      CCDS48178.1
      UniProtKB/Swiss-Prot
      Q0ZNK6, Q5MJ08, Q5W0S6
      Related
      ENSP00000405210.1, ENST00000446864.2
      Conserved Domains (1) summary
      pfam07458
      Location:1 → 89
      SPAN-X; Sperm protein associated with nucleus, mapped to X chromosome

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      143025928..143038637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029543.1 → XP_016885032.1  sperm protein associated with the nucleus on the X chromosome N4 isoform X1

    2. XM_017029544.1 → XP_016885033.1  sperm protein associated with the nucleus on the X chromosome N4 isoform X2

      UniProtKB/TrEMBL
      X6R7N2
      Related
      ENSP00000359535.3, ENST00000370504.3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      141334566..141347275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327106.1 → XP_054183081.1  sperm protein associated with the nucleus on the X chromosome N4 isoform X1

    2. XM_054327107.1 → XP_054183082.1  sperm protein associated with the nucleus on the X chromosome N4 isoform X2

      UniProtKB/TrEMBL
      X6R7N2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5MJ08.1 GenPept UniProtKB/Swiss-Prot:Q5MJ08

    Gene LinkOut

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

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