Aliases for GSG1L Gene

Aliases for GSG1L Gene

  • GSG1 Like 2 3 5
  • Germ Cell-Specific Gene 1-Like Protein 3 4
  • GSG1-Like Protein 3 4
  • PRO19651 2 3
  • KTSR5831 2 3
  • MGC18079 2
  • GSG1L 5

External Ids for GSG1L Gene

Previous GeneCards Identifiers for GSG1L Gene

  • GC16M027706
  • GC16M025889

Summaries for GSG1L Gene

GeneCards Summary for GSG1L Gene

GSG1L (GSG1 Like) is a Protein Coding gene. Diseases associated with GSG1L include Tarp Syndrome and Arthrogryposis, Distal, Type 2A. An important paralog of this gene is GSG1.

UniProtKB/Swiss-Prot Summary for GSG1L Gene

  • As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating.

Additional gene information for GSG1L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSG1L Gene

Genomics for GSG1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GSG1L Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J027888 Promoter 1.1 EPDnew Ensembl 600.1 +175.5 175514 0.4 CTCF ZNF512 ZIC2 EGR1 USF1 ZFHX2 GLIS1 EGR2 USF2 GLIS2 GSG1L CDC37P1 piR-38351-191 RF00026-392 RNU6-159P KATNIP
GH16J028063 Promoter 1 EPDnew Ensembl 600.7 +0.4 413 1 ZIC2 EZH2 RAD21 CTCF ZBTB26 ZNF335 SPI1 EGR2 GSG1L lnc-XPO6-1 KATNIP
GH16J027312 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5 +741.0 741031 19.8 CEBPG HNRNPL CREB1 GATAD2A ATF7 REST ZNF629 TFE3 SOX13 NFKBIZ IL4R NSMCE1-DT NSMCE1 GTF3C1 IL21R KATNIP GSG1L ENSG00000259940 KDM8 ENSG00000274092
GH16J027577 Enhancer 1.1 Ensembl ENCODE 10.3 +484.5 484525 2.4 GATAD2A RXRB IRF2 IKZF2 GABPA ZNF600 CEBPA EED SOX13 KLF9 IL21R-AS1 GSG1L HE856243 KATNIP HSALNG0110454
GH16J028092 Enhancer 0.9 FANTOM5 Ensembl ENCODE 12.1 -29.6 -29628 1.8 CREB1 TARDBP ZIC2 SCRT2 SCRT1 MAZ GLIS1 FOS SREBF1 GSG1L ENSG00000200652 RNY1P10 XPO6 APOBR SBK1 lnc-GSG1L-3 piR-53177-018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSG1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSG1L

Top Transcription factor binding sites by QIAGEN in the GSG1L gene promoter:
  • E47
  • Evi-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • MyoD
  • POU2F1a
  • Sox5

Genomic Locations for GSG1L Gene

Genomic Locations for GSG1L Gene
276,187 bases
Minus strand
275,981 bases
Minus strand

Genomic View for GSG1L Gene

Genes around GSG1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSG1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSG1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSG1L Gene

Proteins for GSG1L Gene

  • Protein details for GSG1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Germ cell-specific gene 1-like protein
    Protein Accession:
    Secondary Accessions:
    • Q7Z6F8
    • Q8TB81

    Protein attributes for GSG1L Gene

    331 amino acids
    Molecular mass:
    36774 Da
    Quaternary structure:
    • Component of the inner core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).

    Alternative splice isoforms for GSG1L Gene


neXtProt entry for GSG1L Gene

Post-translational modifications for GSG1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GSG1L Gene

Domains & Families for GSG1L Gene

Gene Families for GSG1L Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for GSG1L Gene

  • GSG1-like

Suggested Antigen Peptide Sequences for GSG1L Gene

GenScript: Design optimal peptide antigens:
  • Germ cell-specific gene 1-like protein (GSG1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GSG1 family.
  • Belongs to the GSG1 family.
genes like me logo Genes that share domains with GSG1L: view

Function for GSG1L Gene

Molecular function for GSG1L Gene

UniProtKB/Swiss-Prot Function:
As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating.

Phenotypes From GWAS Catalog for GSG1L Gene

Gene Ontology (GO) - Molecular Function for GSG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GSG1L: view

Phenotypes for GSG1L Gene

genes like me logo Genes that share phenotypes with GSG1L: view

Animal Model Products

CRISPR Products

miRNA for GSG1L Gene

miRTarBase miRNAs that target GSG1L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSG1L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GSG1L Gene

Localization for GSG1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSG1L Gene

Cell membrane. Multi-pass membrane protein. Cell junction, synapse.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSG1L gene
Compartment Confidence
plasma membrane 4
extracellular 2
lysosome 1
endoplasmic reticulum 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for GSG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GSG1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSG1L Gene

Pathways & Interactions for GSG1L Gene

PathCards logo

SuperPathways for GSG1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization IEA --
GO:2000311 regulation of AMPA receptor activity IBA 21873635
genes like me logo Genes that share ontologies with GSG1L: view

No data available for Pathways by source and SIGNOR curated interactions for GSG1L Gene

Drugs & Compounds for GSG1L Gene

No Compound Related Data Available

Transcripts for GSG1L Gene

mRNA/cDNA for GSG1L Gene

8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSG1L

Alternative Splicing Database (ASD) splice patterns (SP) for GSG1L Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - - -
SP2: -

Relevant External Links for GSG1L Gene

GeneLoc Exon Structure for

Expression for GSG1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GSG1L Gene

mRNA differential expression in normal tissues according to GTEx for GSG1L Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x7.0), Brain - Nucleus accumbens (basal ganglia) (x6.2), Brain - Caudate (basal ganglia) (x6.1), and Heart - Atrial Appendage (x4.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSG1L

SOURCE GeneReport for Unigene cluster for GSG1L Gene:


Evidence on tissue expression from TISSUES for GSG1L Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with GSG1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSG1L Gene

Orthologs for GSG1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSG1L Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GSG1L 30 31
  • 99.43 (n)
(Bos Taurus)
Mammalia GSG1L 30 31
  • 95.14 (n)
(Canis familiaris)
Mammalia GSG1L 30 31
  • 94.04 (n)
(Rattus norvegicus)
Mammalia Gsg1l 30
  • 89.55 (n)
(Mus musculus)
Mammalia Gsg1l 30 17 31
  • 88.58 (n)
(Monodelphis domestica)
Mammalia GSG1L 31
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia GSG1L 31
  • 77 (a)
(Gallus gallus)
Aves GSG1L 30 31
  • 72.89 (n)
(Anolis carolinensis)
Reptilia GSG1L 31
  • 67 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100485075 30
  • 65.73 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26237 30
(Danio rerio)
Actinopterygii gsg1l 30 31
  • 73.36 (n)
Dr.29187 30
Species where no ortholog for GSG1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GSG1L Gene

Gene Tree for GSG1L (if available)
Gene Tree for GSG1L (if available)
Evolutionary constrained regions (ECRs) for GSG1L: view image

Paralogs for GSG1L Gene

Paralogs for GSG1L Gene

(1) SIMAP similar genes for GSG1L Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GSG1L: view

Variants for GSG1L Gene

Additional dbSNP identifiers (rs#s) for GSG1L Gene

Structural Variations from Database of Genomic Variants (DGV) for GSG1L Gene

Variant ID Type Subtype PubMed ID
esv1010296 CNV insertion 20482838
esv1056305 CNV insertion 17803354
esv1190124 CNV deletion 17803354
esv2411228 CNV deletion 18987734
esv2422531 CNV loss 19546169
esv2511649 CNV deletion 19546169
esv2674766 CNV deletion 23128226
esv2676143 CNV deletion 23128226
esv2714161 CNV deletion 23290073
esv2714162 CNV deletion 23290073
esv2714164 CNV deletion 23290073
esv2714165 CNV deletion 23290073
esv2714166 CNV deletion 23290073
esv2714167 CNV deletion 23290073
esv2714168 CNV deletion 23290073
esv2714169 CNV deletion 23290073
esv27817 CNV loss 19812545
esv28504 CNV loss 19812545
esv3310237 CNV mobile element insertion 20981092
esv3360837 CNV duplication 20981092
esv3384944 OTHER inversion 20981092
esv3412788 CNV insertion 20981092
esv3553292 CNV deletion 23714750
esv3638329 CNV loss 21293372
esv7177 OTHER inversion 19470904
nsv103057 CNV deletion 16902084
nsv103097 CNV deletion 16902084
nsv103125 CNV deletion 16902084
nsv103176 CNV insertion 16902084
nsv1071281 CNV deletion 25765185
nsv1077771 OTHER inversion 25765185
nsv1112289 CNV deletion 24896259
nsv1112689 CNV deletion 24896259
nsv1123027 CNV deletion 24896259
nsv1125308 OTHER inversion 24896259
nsv1131111 CNV deletion 24896259
nsv1133056 OTHER inversion 24896259
nsv1133057 OTHER inversion 24896259
nsv1138422 CNV deletion 24896259
nsv1139650 CNV duplication 24896259
nsv474867 CNV novel sequence insertion 20440878
nsv952960 CNV deletion 24416366

Variation tolerance for GSG1L Gene

Residual Variation Intolerance Score: 30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSG1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSG1L Gene

Disorders for GSG1L Gene

MalaCards: The human disease database

(3) MalaCards diseases for GSG1L Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search GSG1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GSG1L

genes like me logo Genes that share disorders with GSG1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GSG1L Gene

Publications for GSG1L Gene

  1. GSG1L suppresses AMPA receptor-mediated synaptic transmission and uniquely modulates AMPA receptor kinetics in hippocampal neurons. (PMID: 26932439) Gu X … Lu W (Nature communications 2016) 2 3
  2. Differences in AMPA and kainate receptor interactomes facilitate identification of AMPA receptor auxiliary subunit GSG1L. (PMID: 22813734) Shanks NF … Nakagawa T (Cell reports 2012) 2 3
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients. (PMID: 27010727) Yang HC … Liu YL (PLoS genetics 2016) 3

Products for GSG1L Gene

  • Signalway Proteins for GSG1L

Sources for GSG1L Gene