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    GGN gametogenetin [ Homo sapiens (human) ]

    Gene ID: 199720, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GGNprovided by HGNC
    Official Full Name
    gametogenetinprovided by HGNC
    Primary source
    HGNC:HGNC:18869
    See related
    Ensembl:ENSG00000179168 MIM:609966; AllianceGenome:HGNC:18869
    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
    Summary
    This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 12.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See GGN in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38384267..38388384, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41186442..41190559, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38874907..38878674, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene cation channel sperm associated auxiliary subunit gamma Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38842313-38842814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38842815-38843314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38852625-38853566 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38865120-38865750 Neighboring gene proteasome 26S subunit, non-ATPase 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10571 Neighboring gene Sharpr-MPRA regulatory region 13764 Neighboring gene sprouty related EVH1 domain containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38890799-38890957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10573 Neighboring gene family with sequence similarity 98 member C Neighboring gene RAS guanyl releasing protein 4

    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. GGN1 in the testis and ovary and its variance within the Australian fertile and infertile male population. Jamsai D, et al. Int J Androl, 2011 Dec. PMID 21114676
    2. Increased expression of GGN promotes tumorigenesis in bladder cancer and is correlated with poor prognosis. Wang W, et al. Gene, 2018 Apr 30. PMID 29412153
    3. Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene Ggn, interact with mouse POG and play a role in spermatogenesis. Lu B, et al. J Biol Chem, 2003 May 2. PMID 12574169
    4. Yeast two-hybrid screens imply that GGNBP1, GGNBP2 and OAZ3 are potential interaction partners of testicular germ cell-specific protein GGN1. Zhang J, et al. FEBS Lett, 2005 Jan 17. PMID 15642376
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GGN played a tumor-promoting role in bladder cancer through regulation of NFkappaB/caspase3-mediated apoptosis signaling.
      Title: Increased expression of GGN promotes tumorigenesis in bladder cancer and is correlated with poor prognosis.
    2. No significant associations with fertility status were observed, suggesting that variance in the GGN gene are not a common cause of oligospermic infertility in Australian men
      Title: GGN1 in the testis and ovary and its variance within the Australian fertile and infertile male population.
    3. GGN1 and GGN3, interacted with POG, regulated the localization of POG, and played a role in spermatogenesis.
      Title: Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene Ggn, interact with mouse POG and play a role in spermatogenesis.
    Submit: New GeneRIF Correction

    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 69
    MedGen: C5676960 OMIM: 619826 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35713, MGC33369

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gamete generation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gametogenetin

    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_152657.4 → NP_689870.3  gametogenetin

      See identical proteins and their annotated locations for NP_689870.3

      Status: REVIEWED

      Source sequence(s)
      AC005789
      Consensus CDS
      CCDS12516.1
      UniProtKB/Swiss-Prot
      Q7RTU6, Q86UU4, Q86UU5, Q8NAA1
      Related
      ENSP00000334940.5, ENST00000334928.11
      Conserved Domains (1) summary
      pfam15685
      Location:2 → 652
      GGN; Gametogenetin

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      38384267..38388384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526603.3 → XP_011524905.1  gametogenetin isoform X2

      See identical proteins and their annotated locations for XP_011524905.1

      Conserved Domains (1) summary
      pfam15685
      Location:1 → 569
      GGN; Gametogenetin

    2. XM_005258619.5 → XP_005258676.1  gametogenetin isoform X1

      See identical proteins and their annotated locations for XP_005258676.1

      UniProtKB/Swiss-Prot
      Q7RTU6, Q86UU4, Q86UU5, Q8NAA1
      Conserved Domains (1) summary
      pfam15685
      Location:2 → 652
      GGN; Gametogenetin

    3. XM_017026451.2 → XP_016881940.1  gametogenetin isoform X1

      UniProtKB/Swiss-Prot
      Q7RTU6, Q86UU4, Q86UU5, Q8NAA1
      Conserved Domains (1) summary
      pfam15685
      Location:2 → 652
      GGN; Gametogenetin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41186442..41190559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320160.1 → XP_054176135.1  gametogenetin isoform X2

    2. XM_054320159.1 → XP_054176134.1  gametogenetin isoform X1

      UniProtKB/Swiss-Prot
      Q7RTU6, Q86UU4, Q86UU5, Q8NAA1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182477.1: Suppressed sequence

      Description
      NM_182477.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UU5.2 GenPept UniProtKB/Swiss-Prot:Q86UU5

    Gene LinkOut

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

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