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    FAM110B family with sequence similarity 110 member B [ Homo sapiens (human) ]

    Gene ID: 90362, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM110Bprovided by HGNC
    Official Full Name
    family with sequence similarity 110 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:28587
    See related
    Ensembl:ENSG00000169122 MIM:611394; AllianceGenome:HGNC:28587
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C8orf72
    Summary
    Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in spleen (RPKM 2.9), brain (RPKM 1.5) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM110B in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (57994523..58148784)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (58416010..58570300)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (58907082..59061343)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375856 Neighboring gene MPRA-validated peak7034 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:58831444-58831956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:58831957-58832467 Neighboring gene NANOG hESC enhancer GRCh37_chr8:58887201-58887738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:58907533-58908033 Neighboring gene long intergenic non-protein coding RNA 1602 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:58926679-58927179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:58978669-58979170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59011059-59011722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59010395-59011058 Neighboring gene NANOG hESC enhancer GRCh37_chr8:59030663-59031236 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:59034986-59035605 Neighboring gene ribosomal protein L26 pseudogene 26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59058363-59058965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59085063-59085589 Neighboring gene uncharacterized LOC107986945 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:59108481-59109680 Neighboring gene VISTA enhancer hs1364 Neighboring gene long intergenic non-protein coding RNA 3133

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Integrative genomic, transcriptomic, and RNAi analysis indicates a potential oncogenic role for FAM110B in castration-resistant prostate cancer. Vainio P, et al. Prostate, 2012 May 15. PMID 21919029
    2. Characterization of the FAM110 gene family. Hauge H, et al. Genomics, 2007 Jul. PMID 17499476
    3. Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. He J, et al. Circ Cardiovasc Genet, 2013 Dec. PMID 24165912, Free PMC Article
    4. Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. Zeng Z, et al. Caries Res, 2014. PMID 24556642, Free PMC Article
    5. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Wang KS, et al. Schizophr Res, 2010 Dec. PMID 20889312

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM110B was able to regulate androgen receptor signaling in prostate cancer cells and FAM110B itself was regulated by androgens. FAM110B siRNA inhibited the growth of prostate cancer cells in vitro.
      Title: Integrative genomic, transcriptomic, and RNAi analysis indicates a potential oncogenic role for FAM110B in castration-resistant prostate cancer.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    4. Localizes to centrosomes and accumulates at the microtubule organization center in interphase and at spindle poles in mitosis; ectopic expression impairs cell cycle progression in the G1 phase.
      Title: Characterization of the FAM110 gene family.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog
    Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC39325

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM110B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001377989.1 → NP_001364918.1  protein FAM110B

      Status: VALIDATED

      Source sequence(s)
      AC104350, AC110013
      Consensus CDS
      CCDS6170.1
      UniProtKB/Swiss-Prot
      Q5BM08, Q8TC76, Q9Y4K2
      UniProtKB/TrEMBL
      B3KRT5
      Related
      ENSP00000509301.1, ENST00000519262.6
      Conserved Domains (2) summary
      pfam14160
      Location:253 → 361
      FAM110_C; Centrosome-associated C-terminus
      pfam14161
      Location:13 → 118
      FAM110_N; Centrosome-associated N-terminus

    2. NM_001377997.1 → NP_001364926.1  protein FAM110B

      Status: VALIDATED

      Source sequence(s)
      AC104350, AC110013
      Consensus CDS
      CCDS6170.1
      UniProtKB/Swiss-Prot
      Q5BM08, Q8TC76, Q9Y4K2
      UniProtKB/TrEMBL
      B3KRT5
      Conserved Domains (2) summary
      pfam14160
      Location:253 → 361
      FAM110_C; Centrosome-associated C-terminus
      pfam14161
      Location:13 → 118
      FAM110_N; Centrosome-associated N-terminus

    3. NM_001377998.1 → NP_001364927.1  protein FAM110B

      Status: VALIDATED

      Source sequence(s)
      AC104350, AC110013
      Consensus CDS
      CCDS6170.1
      UniProtKB/Swiss-Prot
      Q5BM08, Q8TC76, Q9Y4K2
      UniProtKB/TrEMBL
      B3KRT5
      Conserved Domains (2) summary
      pfam14160
      Location:253 → 361
      FAM110_C; Centrosome-associated C-terminus
      pfam14161
      Location:13 → 118
      FAM110_N; Centrosome-associated N-terminus

    4. NM_147189.4 → NP_671722.1  protein FAM110B

      See identical proteins and their annotated locations for NP_671722.1

      Status: VALIDATED

      Source sequence(s)
      AC104350, AC110013, AK092221
      Consensus CDS
      CCDS6170.1
      UniProtKB/Swiss-Prot
      Q5BM08, Q8TC76, Q9Y4K2
      UniProtKB/TrEMBL
      B3KRT5
      Related
      ENSP00000355204.3, ENST00000361488.7
      Conserved Domains (2) summary
      pfam14160
      Location:253 → 361
      FAM110_C; Centrosome-associated C-terminus
      pfam14161
      Location:13 → 118
      FAM110_N; Centrosome-associated N-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      57994523..58148784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422400.1 → XP_047278356.1  protein FAM110B isoform X1

      UniProtKB/Swiss-Prot
      Q5BM08, Q8TC76, Q9Y4K2

    2. XM_017013948.2 → XP_016869437.1  protein FAM110B isoform X1

      UniProtKB/Swiss-Prot
      Q5BM08, Q8TC76, Q9Y4K2
      UniProtKB/TrEMBL
      B3KRT5
      Conserved Domains (2) summary
      pfam14160
      Location:253 → 361
      FAM110_C; Centrosome-associated C-terminus
      pfam14161
      Location:13 → 118
      FAM110_N; Centrosome-associated N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      58416010..58570300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361463.1 → XP_054217438.1  protein FAM110B isoform X1

      UniProtKB/Swiss-Prot
      Q5BM08, Q8TC76, Q9Y4K2

    2. XM_054361462.1 → XP_054217437.1  protein FAM110B isoform X1

      UniProtKB/Swiss-Prot
      Q5BM08, Q8TC76, Q9Y4K2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC76.1 GenPept UniProtKB/Swiss-Prot:Q8TC76

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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