Gene Gene information from NCBI Gene database.
Entrez ID 146395
Gene name GSG1 like
Gene symbol GSG1L
Synonyms (NCBI Gene)
PRO19651
Chromosome 16
Chromosome location 16p12.1
miRNA miRNA information provided by mirtarbase database.
194
miRTarBase ID miRNA Experiments Reference
MIRT017935 hsa-miR-335-5p Microarray 18185580
MIRT737700 hsa-miR-1193 CLIP-seq
MIRT1035825 hsa-miR-1245b-3p CLIP-seq
MIRT1035826 hsa-miR-1255a CLIP-seq
MIRT1035827 hsa-miR-1255b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0010646 Process Regulation of cell communication IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617161 28283 ENSG00000169181
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXU4
Protein name Germ cell-specific gene 1-like protein (GSG1-like protein)
Protein function As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07803 GSG-1 5 132 GSG1-like protein Family
Sequence
MKTSRRGRALLAVALNLLALLFATTAFLTTHWCQGTQRVPKPGCGQGGRANCPNSGANAT
ANGTAAPAAAAAAATASGNGPPGGALYSWETGDDRFLFRNFHTGIWYSCEEELSGLGEKC
RSFIDLAPASEK
GVLWLSVVSEVLYILLLVVGFSLMCLELFHSSNVIDGLKLNAFAAVFT
VLSGLLGMVAHMMYTQVFQVTVSLGPEDWRPHSWDYGWSFCLAWGSFTCCMAASVTTLNS
YTKTVIEFRHKRKVFEQGYREEPTFIDPEAIKYFRERMEKRDGSEEDFHLDCRHERYPAR
HQPHMADSWPRSSAQEAPELNRQCWVLGHWV
Sequence length 331
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 28257124 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32407802 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28257124
★☆☆☆☆
Found in Text Mining only