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FAM107B (family with sequence similarity 107, member B)

Written2015-01Hideo Nakajima, Keita Koizumi
Department of Oncology, Ageo Central General Hospital, Ageo, Saitama, Department of Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, Saitama, (HN); Center for Child Mental Development, Kanazawa University, Kanazawa, Ishikawa, (KK) Japan.

Abstract FAM107 members contain an N-terminal domain of unknown function (DUF1151) that is conserved across species. Mammals have two genes, FAM107A and FAM107B, which expressions are strong in neural cells, whereas their expressions are mostly down-regulated in cancer cells. Both proteins appear to alter cytoskeleton rearrangements and are involved in cell migration and invasion. The molecular mechanisms underlying the diverse biological functions of FAM107 remain unclear, while it shows functional similarity with heat-shock proteins (HSPs) as well as reactions to cellular stress.

Keywords tumor suppressor gene, heat-shock protein, neuron

(Note : for Links provided by Atlas : click)


HGNC (Hugo) FAM107B
HGNC Alias symbFLJ45505
HGNC Alias nameheat shock-inducible tumor small protein
HGNC Previous nameC10orf45
HGNC Previous namechromosome 10 open reading frame 45
 family with sequence similarity 107, member B
LocusID (NCBI) 83641
Atlas_Id 53778
Location 10p13  [Link to chromosome band 10p13]
Location_base_pair Starts at 14518557 and ends at 14774897 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping FAM107B.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EIF3B (7p22.3)::FAM107B (10p13)FAM107B (10p13)::DGKG (3q27.2)FAM107B (10p13)::GCNT7 (20q13.31)
FAM107B (10p13)::MXI1 (10q25.2)FAM107B (10p13)::PHF11 (13q14.2)FAM107B (10p13)::UBALD2 (17q25.1)
FAM168B (2q21.1)::FAM107B (10p13)LOC100507412 (-)::FAM107B (10p13)MLEC (12q24.31)::FAM107B (10p13)
TXNDC12 (1p32.3)::FAM107B (10p13)USP6NL (10p14)::FAM107B (10p13)WDR37 (10p15.3)::FAM107B (10p13)
Note The FAM107B protein is encoded by FAM107B gene.


Description FAM107B gene is located on the minus strand of chromosome 10, p13, which is on the short arm of the chromosome.
Transcription FAM107B has ten transcript variants. Variant 1 and 3 through 10 encode the same isoform (a: 131 aa) with coding DNA sequence consisting of 396 bps on three exons. Variant 2 lacks an exon and initiates translation at an alternate start codon, which encodes longer isoform (b: 306 aa) with a distinct N-terminus.


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.
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).


Note A point mutation in the C-terminal region (chromosome 10:14603968 CïG?TïA transition) is frequently observed in basal-like breast cancer (Ding et al., 2010).

Implicated in

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).
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).
Entity Colon Cancer
Note FAM107B expression is decreased during the processes in the colorectal adenoma-to-carcinoma transition (Nakajima et al., 2010).
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).
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).
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).


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
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
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
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
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
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
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


This paper should be referenced as such :
Hideo Nakajima, Keita Koizumi
FAM107B (family with sequence similarity 107, member B)
Atlas Genet Cytogenet Oncol Haematol. 2016;20(2):71-73.
Free journal version : [ pdf ]   [ DOI ]

External links


HGNC (Hugo)FAM107B   23726
Entrez_Gene (NCBI)FAM107B    family with sequence similarity 107 member B
AliasesC10orf45; HITS
GeneCards (Weizmann)FAM107B
Ensembl hg19 (Hinxton)ENSG00000065809 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065809 [Gene_View]  ENSG00000065809 [Sequence]  chr10:14518557-14774897 [Contig_View]  FAM107B [Vega]
ICGC DataPortalENSG00000065809
TCGA cBioPortalFAM107B
AceView (NCBI)FAM107B
Genatlas (Paris)FAM107B
SOURCE (Princeton)FAM107B
Genetics Home Reference (NIH)FAM107B
Genomic and cartography
GoldenPath hg38 (UCSC)FAM107B  -     chr10:14518557-14774897 -  10p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAM107B  -     10p13   [Description]    (hg19-Feb_2009)
GoldenPathFAM107B - 10p13 [CytoView hg19]  FAM107B - 10p13 [CytoView hg38]
Genome Data Viewer NCBIFAM107B [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK024648 AK074275 AK127413 AK289959 AL136885
RefSeq transcript (Entrez)NM_001282695 NM_001282696 NM_001282697 NM_001282698 NM_001282699 NM_001282700 NM_001282701 NM_001282702 NM_001282703 NM_001320735 NM_001320736 NM_001320737 NM_001320738 NM_001320739 NM_001320740 NM_001320741 NM_031453
Consensus coding sequences : CCDS (NCBI)FAM107B
Gene ExpressionFAM107B [ NCBI-GEO ]   FAM107B [ EBI - ARRAY_EXPRESS ]   FAM107B [ SEEK ]   FAM107B [ MEM ]
Gene Expression Viewer (FireBrowse)FAM107B [ Firebrowse - Broad ]
GenevisibleExpression of FAM107B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83641
GTEX Portal (Tissue expression)FAM107B
Human Protein AtlasENSG00000065809-FAM107B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H098   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H098  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H098
Domains : Interpro (EBI)FAM107   
Domain families : Pfam (Sanger)DUF1151 (PF06625)   
Domain families : Pfam (NCBI)pfam06625   
Conserved Domain (NCBI)FAM107B
AlphaFold pdb e-kbQ9H098   
Human Protein Atlas [tissue]ENSG00000065809-FAM107B [tissue]
Protein Interaction databases
IntAct (EBI)Q9H098
Ontologies - Pathways
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkFAM107B
Atlas of Cancer Signalling NetworkFAM107B
Wikipedia pathwaysFAM107B
Orthology - Evolution
GeneTree (enSembl)ENSG00000065809
Phylogenetic Trees/Animal Genes : TreeFamFAM107B
Homologs : HomoloGeneFAM107B
Homology/Alignments : Family Browser (UCSC)FAM107B
Gene fusions - Rearrangements
Fusion : MitelmanWDR37::FAM107B [10p15.3/10p13]  
Fusion : QuiverFAM107B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAM107B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAM107B
Exome Variant ServerFAM107B
GNOMAD BrowserENSG00000065809
Varsome BrowserFAM107B
ACMGFAM107B variants
Genomic Variants (DGV)FAM107B [DGVbeta]
DECIPHERFAM107B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAM107B 
ICGC Data PortalFAM107B 
TCGA Data PortalFAM107B 
Broad Tumor PortalFAM107B
OASIS PortalFAM107B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAM107B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFAM107B
Mutations and Diseases : HGMDFAM107B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)FAM107B
DoCM (Curated mutations)FAM107B
CIViC (Clinical Interpretations of Variants in Cancer)FAM107B
NCG (London)FAM107B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry FAM107B
NextProtQ9H098 [Medical]
Target ValidationFAM107B
Huge Navigator FAM107B [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDFAM107B
Pharm GKB GenePA134902915
Clinical trialFAM107B
DataMed IndexFAM107B
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:17:41 CEST 2021

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