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GSG1L2 GSG1 like 2 [ Homo sapiens (human) ]

Gene ID: 644070, updated on 27-Nov-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 located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See GSG1L2 in Genome Data Viewer
Location:
17p13.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (9800608..9822079, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (9708320..9729826, complement)
RS_2024_09 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)

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_2024_08

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