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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

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