rs147955878
This variant is located in the ATF6B gene.
▶ClinVar annotation
not provided; Colon adenocarcinoma; Colorectal cancer; Sarcoma; Gastric cancer; Uterine corpus endometrial carcinoma; Uveal melanoma; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Lung cancer; Cholangiocarcinoma; Acute myeloid leukemia; Hepatocellular carcinoma; Malignant tumor of esophagus; Clear cell carcinoma of kidney; Thymoma; Melanoma; Nonpapillary renal cell carcinoma; Cervical cancer
View on ClinVar →About ATF6B
The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
View all ATF6B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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