| Note | FAM107 members contain an N-terminal domain of unknown function (DUF1151) that is conserved across species, including mammalian, xenopus, fish, and drosophila, and show no homologous matches to other functionally conserved domains. Mammals have two genes, FAM107A and FAM107B, which encode for proteins of 144 amino acids (aa) and 131 aa, respectively. |
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| Description | 131 amino acids, 15.6 kDa. FAM107B protein includes an N-terminal (aa 1-66) conserved domain DUF1151, a nuclear localization signal (NLS) and a C-terminal (aa 61-112) variable coiled-coil domain (Nakajima et al., 2010; Nakajima et al., 2014). |
| Expression | FAM107B is expressed in most tissues and found in all stages of human development. FAM107B gene has a promoter region with heat-shock transcription factor 1 (HSF1) binding sites, and FAM107B expression is increased after heat-shock or hyperthermia treatment (Nakajima et al., 2010). |
| Localisation | Nucleus (Nakajima et al., 2010) |
| Function | FAM107B is regarded as a candidate tumor suppressor gene because a loss of FAM107B expression was observed to be a common phenomenon in cancers of various organs, resulting in tumor development and proliferation. Forced expression of FAM107B inhibited cancer cell proliferation in response to growth factors in vitro and tumor xenograft growth in vivo (Nakajima et al., 2010; Nakajima et al., 2012). |
| Homology | FAM107B protein sequence is nearly 98% identical with mouse and rat homologues. FAM107A and FAM107B proteins have 65% sequence similarity in their DUF1151 regions (Nakajima et al., 2010; Nakajima et al., 2014). |
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| Entity | Breast cancer |
| Note | A point mutation in the C-terminal region was frequently observed in basal-like breast cancer (Ding et al., 2010), and mutated amino acid sequence of FAM107B in breast cancer was identified as a unique tumor antigen predicted to bind to HLA-A2 (Li et al., 2011). Copy number aberrations (CNA) of FAM107B are found specifically in basal-like breast cancer (Weigman et al., 2012). In addition, genome-wide DNA methylation study was performed to identify differentially methylated sites between monozygotic twins discordant for breast cancer. FAM107B was identified as a hypermethylated region in breast cancer blood samples (Heyn et al., 2013). In analysis for FAM107B expression and the clinico-pathological parameters, FAM107B expression intensity was positively correlated with the expressions of HER2 and Ki-67, but it was inversely correlated with PR expression. Accordingly, FAM107B expression was mostly lost in HER2 negative, Ki-67 negative, PR positive, and desmoplastic reaction-negative type breast cancer, which is believed to be a non-aggressive or indolent phenotype (Nakajima et al., 2012). |
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| Entity | Stomach Cancer |
| Note | FAM107B expression is decreased in intestinal-type gastric adenocarcinomas but not in diffuse type or mucinous adenocarcinomas (Nakajima et al., 2010). |
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| Entity | Colon Cancer |
| Note | FAM107B expression is decreased during the processes in the colorectal adenoma-to-carcinoma transition (Nakajima et al., 2010). |
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| Entity | Uterine Cervical Cancer |
| Note | In uterine cervical diseases, FAM107B expression is lost in invasive squamous cell carcinoma but not in cervical intraepithelial neoplasia (CIN) (Nakajima et al., 2012). |
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| Entity | Autism Spectrum Disorder |
| Note | Six genome-wide association studies (GWASs) were integrated to figures out genetic networks of candidate genes associated with autism spectrum disorders (ASD). SNP close to FAM107B is mentioned as one of the ASD associated candidates (Poelmans et al., 2013). |
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| Entity | Major Depression |
| Note | Genome-wide DNA methylation study using post mortem frontal cortex of healthy and major depression subjects figured out FAM107B region is differentially methylated in neural cells of major depression (Guintivano et al., 2013). |
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| Genome remodelling in a basal-like breast cancer metastasis and xenograft |
| Ding L, Ellis MJ, Li S, Larson DE, Chen K, Wallis JW, Harris CC, McLellan MD, Fulton RS, Fulton LL, Abbott RM, Hoog J, Dooling DJ, Koboldt DC, Schmidt H, Kalicki J, Zhang Q, Chen L, Lin L, Wendl MC, McMichael JF, Magrini VJ, Cook L, McGrath SD, Vickery TL, Appelbaum E, Deschryver K, Davies S, Guintoli T, Lin L, Crowder R, Tao Y, Snider JE, Smith SM, Dukes AF, Sanderson GE, Pohl CS, Delehaunty KD, Fronick CC, Pape KA, Reed JS, Robinson JS, Hodges JS, Schierding W, Dees ND, Shen D, Locke DP, Wiechert ME, Eldred JM, Peck JB, Oberkfell BJ, Lolofie JT, Du F, Hawkins AE, O'Laughlin MD, Bernard KE, Cunningham M, Elliott G, Mason MD, Thompson DM Jr, Ivanovich JL, Goodfellow PJ, Perou CM, Weinstock GM, Aft R, Watson M, Ley TJ, Wilson RK, Mardis ER |
| Nature 2010 Apr 15;464(7291):999-1005 |
| PMID 20393555 |
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| A cell epigenotype specific model for the correction of brain cellular heterogeneity bias and its application to age, brain region and major depression |
| Guintivano J, Aryee MJ, Kaminsky ZA |
| Epigenetics 2013 Mar;8(3):290-302 |
| PMID 23426267 |
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| DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker |
| Heyn H, Carmona FJ, Gomez A, Ferreira HJ, Bell JT, Sayols S, Ward K, Stefansson OA, Moran S, Sandoval J, Eyfjord JE, Spector TD, Esteller M |
| Carcinogenesis 2013 Jan;34(1):102-8 |
| PMID 23054610 |
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| Cancer genome sequencing and its implications for personalized cancer vaccines |
| Li L, Goedegebuure P, Mardis ER, Ellis MJ, Zhang X, Herndon JM, Fleming TP, Carreno BM, Hansen TH, Gillanders WE |
| Cancers (Basel) 2011 Nov 25;3(4):4191-211 |
| PMID 24213133 |
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| Family with sequence similarity 107: A family of stress responsive small proteins with diverse functions in cancer and the nervous system (Review) |
| Nakajima H, Koizumi K |
| Biomed Rep 2014 May;2(3):321-325 |
| PMID 24748967 |
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| AKAPs integrate genetic findings for autism spectrum disorders |
| Poelmans G, Franke B, Pauls DL, Glennon JC, Buitelaar JK |
| Transl Psychiatry 2013 Jun 11;3:e270 |
| PMID 23756379 |
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| Basal-like Breast cancer DNA copy number losses identify genes involved in genomic instability, response to therapy, and patient survival |
| Weigman VJ, Chao HH, Shabalin AA, He X, Parker JS, Nordgard SH, Grushko T, Huo D, Nwachukwu C, Nobel A, Kristensen VN, Børresen-Dale AL, Olopade OI, Perou CM |
| Breast Cancer Res Treat 2012 Jun;133(3):865-80 |
| PMID 22048815 |
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