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    GSG1L2 GSG1 like 2 [ Homo sapiens (human) ]

    Gene ID: 644070, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GSG1L2provided by HGNC
    Official Full Name
    GSG1 like 2provided by HGNC
    Primary source
    HGNC:HGNC:51826
    See related
    Ensembl:ENSG00000214978 AllianceGenome:HGNC:51826
    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
    Summary
    Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (9800608..9822079, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (9708320..9729826, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (9703925..9725396, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9549075-9549722 Neighboring gene uncharacterized LOC107985011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:9550412-9551611 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9565481-9565980 Neighboring gene ubiquitin specific peptidase 43 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:9579536-9580735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:9604114-9605313 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:9612165-9612329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9630942-9631442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9631443-9631943 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:9680825-9681382 Neighboring gene DHRS7C intron CAGE-defined high expression enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47652 Neighboring gene dehydrogenase/reductase 7C Neighboring gene uncharacterized LOC124903925 Neighboring gene glucagon like peptide 2 receptor Neighboring gene nucleophosmin 1 pseudogene 45 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9802365-9802866 Neighboring gene recoverin

    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. A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. Greliche N, et al. BMC Med Genet, 2013 Mar 20. PMID 23509962, Free PMC Article
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, 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

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog

    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

    Potential readthrough

    Included gene: DHRS7C

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    germ cell-specific gene 1-like protein 2
    Names
    GSG1-like protein 2
    germ cell-specific gene 1-like protein 2-like
    putative germ cell-specific gene 1-like protein 2

    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_001310219.2 → NP_001297148.1  germ cell-specific gene 1-like protein 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC026591, AC027045
      Consensus CDS
      CCDS82072.1
      UniProtKB/Swiss-Prot
      A8MUP6, K7EL98
      Related
      ENSP00000465978.1, ENST00000399363.5
      Conserved Domains (2) summary
      pfam07803
      Location:21 → 119
      GSG-1; GSG1-like protein
      cl21598
      Location:89 → 222
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      9800608..9822079 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      9708320..9729826 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MUP6.3 GenPept UniProtKB/Swiss-Prot:A8MUP6

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials
    Miscellaneous