Gene: STON1-GTF2A1L

Alternate names for this Gene: ALF|GTF2A1L|GTF2A1LF|SALF

Gene Summary: STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: STON1-GTF2A1L readthrough

Type of Gene: protein-coding

Gene: STON1

Alternate names for this Gene: SALF|SBLF|STN1|STNB1

Gene Summary: Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: stonin 1

Type of Gene: protein-coding

rs56837599 in STON1-GTF2A1L;STON1 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs149954327 in STON1-GTF2A1L;STON1 gene and Body mass index procedure PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs149954327 in STON1-GTF2A1L;STON1 gene and Finding of body mass index PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.