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    TEX11 testis expressed 11 [ Homo sapiens (human) ]

    Gene ID: 56159, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TEX11provided by HGNC
    Official Full Name
    testis expressed 11provided by HGNC
    Primary source
    HGNC:HGNC:11733
    See related
    Ensembl:ENSG00000120498 MIM:300311; AllianceGenome:HGNC:11733
    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
    TGC1; ZIP4; MZIP4; Spo22; TSGA3; ZIP4H; SPGFX2
    Summary
    This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in pancreas (RPKM 5.2), testis (RPKM 5.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See TEX11 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70511227..70908711, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68944548..69342011, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69748790..70128561, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20891 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:69674628-69675054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20893 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:69696945-69697843 Neighboring gene RNA, U4 small nuclear 81, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chrX:69699902-69700403 Neighboring gene DLG3 antisense RNA 1 Neighboring gene discs large MAGUK scaffold protein 3 Neighboring gene NANOG hESC enhancer GRCh37_chrX:69728146-69728708 Neighboring gene small integral membrane protein 30-like Neighboring gene small nucleolar RNA, C/D box 3E Neighboring gene WASHC3 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:70150189-70150690 Neighboring gene solute carrier family 7 member 3 Neighboring gene ribosomal protein S23 pseudogene 8

    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. Novel mutations of TEX11 are associated with non-obstructive azoospermia. Song J, et al. Front Endocrinol (Lausanne), 2023. PMID 37124723, Free PMC Article
    2. Testis-expressed gene 11 inhibits cisplatin-induced DNA damage and contributes to chemoresistance in testicular germ cell tumor. Kitayama S, et al. Sci Rep, 2022 Nov 1. PMID 36319719, Free PMC Article
    3. Downregulation of TEX11 promotes S-Phase progression and proliferation in colorectal cancer cells through the FOXO3a/COP1/c-Jun/p21 axis. Zhang X, et al. Oncogene, 2022 Nov. PMID 36258021
    4. X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. Yatsenko AN, et al. N Engl J Med, 2015 May 28. PMID 25970010, Free PMC Article
    5. Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking. Kuliyev E, et al. J Biol Chem, 2021 Jan-Jun. PMID 33837739, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel mutations of TEX11 are associated with non-obstructive azoospermia.
      Title: Novel mutations of TEX11 are associated with non-obstructive azoospermia.
    2. Downregulation of TEX11 promotes S-Phase progression and proliferation in colorectal cancer cells through the FOXO3a/COP1/c-Jun/p21 axis.
      Title: Downregulation of TEX11 promotes S-Phase progression and proliferation in colorectal cancer cells through the FOXO3a/COP1/c-Jun/p21 axis.
    3. Testis-expressed gene 11 inhibits cisplatin-induced DNA damage and contributes to chemoresistance in testicular germ cell tumor.
      Title: Testis-expressed gene 11 inhibits cisplatin-induced DNA damage and contributes to chemoresistance in testicular germ cell tumor.
    4. Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.
      Title: Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.
    5. Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.
      Title: Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.
    6. A new TEX11 mutation causes azoospermia and testicular meiotic arrest.
      Title: A new TEX11 mutation causes azoospermia and testicular meiotic arrest.
    7. Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.
      Title: Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.
    8. This result suggests that regular expression of TEX11, TEX12, TEX14 and TEX15 is essential for the early stages of spermatogenesis.
      Title: Expression analysis of genes encoding TEX11, TEX12, TEX14 and TEX15 in testis tissues of men with non-obstructive azoospermia.
    9. Data identified one novel TEX11 mutation in two brothers. The missense mutation is associated with male infertility, especially azoospermia.
      Title: A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review.
    10. Through the translational regulation of novel RNA targets SMC1B and TEX11, DAZL may have a key role in regulating chromosome cohesion and DNA recombination; two processes fundamental in determining oocyte quality and whose establishment in foetal life may support lifelong fertility.
      Title: RNA immunoprecipitation identifies novel targets of DAZL in human foetal ovary.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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

    Associated conditions

    Description Tests
    Spermatogenic failure, X-linked, 2
    MedGen: C1839841 OMIM: 309120 GeneReviews: Not available
    		Compare labs

    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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    Markers

    Homology

    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chiasma assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ectopic germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male meiosis chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic gene conversion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of developmental process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of reproductive process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in reciprocal meiotic recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in resolution of meiotic recombination intermediates IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptonemal complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in central element IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with synaptonemal complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    testis-expressed protein 11
    Names
    ZIP4 homolog
    protein ZIP4 homolog
    testis expressed sequence 11
    testis-expressed sequence 11 protein

    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_012574.3 RefSeqGene

      Range
      5000..384771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003811.2 → NP_001003811.1  testis-expressed protein 11 isoform 1

      See identical proteins and their annotated locations for NP_001003811.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK057523, BC036016, BG219070, BU929507
      Consensus CDS
      CCDS35323.1
      UniProtKB/Swiss-Prot
      A8K8V6, Q5JQQ8, Q8IYF3, Q96LZ4, Q96M47, Q9BXU6
      Related
      ENSP00000379226.2, ENST00000395889.6
      Conserved Domains (2) summary
      sd00006
      Location:417 → 451
      TPR; TPR repeat [structural motif]
      pfam08631
      Location:190 → 444
      SPO22; Meiosis protein SPO22/ZIP4 like

    2. NM_031276.3 → NP_112566.2  testis-expressed protein 11 isoform 2

      See identical proteins and their annotated locations for NP_112566.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' region, as compared to variant 1. It uses an upstream in-frame AUG codon and encodes isoform 2 which has a shorter and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK057391, AK057523, BC036016, BG219070, BU929507
      Consensus CDS
      CCDS43968.1
      UniProtKB/Swiss-Prot
      Q8IYF3
      Related
      ENSP00000363453.2, ENST00000374333.7
      Conserved Domains (2) summary
      sd00006
      Location:402 → 436
      TPR; TPR repeat [structural motif]
      pfam08631
      Location:175 → 429
      SPO22; Meiosis protein SPO22/ZIP4 like

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      70511227..70908711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029649.1 → XP_016885138.1  testis-expressed protein 11 isoform X1

    2. XM_017029650.1 → XP_016885139.1  testis-expressed protein 11 isoform X3

    3. XM_017029651.2 → XP_016885140.1  testis-expressed protein 11 isoform X4

      Related
      ENSP00000363440.2, ENST00000374320.6

    4. XM_017029652.2 → XP_016885141.1  testis-expressed protein 11 isoform X5

    5. XM_011530994.2 → XP_011529296.1  testis-expressed protein 11 isoform X2

      Conserved Domains (2) summary
      sd00006
      Location:402 → 436
      TPR; TPR repeat [structural motif]
      pfam08631
      Location:175 → 429
      SPO22; Meiosis protein SPO22/ZIP4 like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      68944548..69342011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327403.1 → XP_054183378.1  testis-expressed protein 11 isoform X1

    2. XM_054327405.1 → XP_054183380.1  testis-expressed protein 11 isoform X3

    3. XM_054327406.1 → XP_054183381.1  testis-expressed protein 11 isoform X4

    4. XM_054327407.1 → XP_054183382.1  testis-expressed protein 11 isoform X5

    5. XM_054327404.1 → XP_054183379.1  testis-expressed protein 11 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYF3.3 GenPept UniProtKB/Swiss-Prot:Q8IYF3

    Gene LinkOut

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

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