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    FAM118B family with sequence similarity 118 member B [ Homo sapiens (human) ]

    Gene ID: 79607, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FAM118Bprovided by HGNC
    Official Full Name
    family with sequence similarity 118 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:26110
    See related
    Ensembl:ENSG00000197798 MIM:616587; AllianceGenome:HGNC:26110
    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
    Summary
    Enables identical protein binding activity. Predicted to be involved in Cajal body organization. Predicted to be located in Cajal body. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 26.8), salivary gland (RPKM 21.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q24.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (126211724..126262987)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (126241256..126292471)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (126081619..126132882)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369591 Neighboring gene uncharacterized LOC124902783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:126016810-126017457 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:126017458-126018104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:126029789-126030433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:126030434-126031078 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:126052865-126053364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:126055613-126056538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5703 Neighboring gene RNA pseudouridine synthase D4 Neighboring gene RNA, U4 small nuclear 86, pseudogene Neighboring gene MPRA-validated peak1502 silencer Neighboring gene MPRA-validated peak1503 silencer Neighboring gene SRP receptor subunit alpha Neighboring gene RNA, 7SL, cytoplasmic 351, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5705 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:126147427-126147591 Neighboring gene FAD dependent oxidoreductase domain containing 1 Neighboring gene ribosomal protein L35a pseudogene 26

    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. Towards an understanding of regulating Cajal body activity by protein modification. Hebert MD, et al. RNA Biol, 2017 Jun 3. PMID 27819531, Free PMC Article
    2. Fam118B, a newly identified component of Cajal bodies, is required for Cajal body formation, snRNP biogenesis and cell viability. Li Y, et al. J Cell Sci, 2014 May 1. PMID 24569877, Free PMC Article
    3. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas. Schieffer KM, et al. Am J Surg Pathol, 2021 Mar 1. PMID 33074854
    4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    5. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.
      Title: YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21103

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Cajal body IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM118B

    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.

    Genomic

    1. NG_017156.1 RefSeqGene

      Range
      5059..56245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330446.1 → NP_001317375.1  protein FAM118B isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP001318, BI522660, CB141933
      Consensus CDS
      CCDS81647.1
      UniProtKB/TrEMBL
      E9PMJ2, J3KP39
      Related
      ENSP00000434952.1, ENST00000528985.5
      Conserved Domains (1) summary
      pfam13289
      Location:158 → 301
      SIR2_2; SIR2-like domain

    2. NM_024556.4 → NP_078832.1  protein FAM118B isoform 1

      See identical proteins and their annotated locations for NP_078832.1

      Status: VALIDATED

      Source sequence(s)
      BC001340, BF448999, CB141933
      Consensus CDS
      CCDS8470.1
      UniProtKB/Swiss-Prot
      Q9BPY3, Q9H7B0
      UniProtKB/TrEMBL
      E9PMJ2
      Related
      ENSP00000433343.1, ENST00000533050.6
      Conserved Domains (1) summary
      pfam13289
      Location:158 → 301
      SIR2_2; SIR2-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      126211724..126262987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542977.4 → XP_011541279.1  protein FAM118B isoform X1

      See identical proteins and their annotated locations for XP_011541279.1

      UniProtKB/Swiss-Prot
      Q9BPY3, Q9H7B0
      UniProtKB/TrEMBL
      E9PMJ2
      Conserved Domains (1) summary
      pfam13289
      Location:158 → 301
      SIR2_2; SIR2-like domain

    2. XM_017018285.3 → XP_016873774.1  protein FAM118B isoform X2

      UniProtKB/TrEMBL
      E9PMJ2, J3KP39
      Related
      ENSP00000353321.4, ENST00000360194.8
      Conserved Domains (1) summary
      pfam13289
      Location:158 → 301
      SIR2_2; SIR2-like domain

    3. XM_011542978.4 → XP_011541280.2  protein FAM118B isoform X3

    4. XM_047427584.1 → XP_047283540.1  protein FAM118B isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      126241256..126292471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369930.1 → XP_054225905.1  protein FAM118B isoform X1

      UniProtKB/Swiss-Prot
      Q9BPY3, Q9H7B0

    2. XM_054369931.1 → XP_054225906.1  protein FAM118B isoform X2

      UniProtKB/TrEMBL
      J3KP39

    3. XM_054369932.1 → XP_054225907.1  protein FAM118B isoform X3

    4. XM_054369933.1 → XP_054225908.1  protein FAM118B isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BPY3.1 GenPept UniProtKB/Swiss-Prot:Q9BPY3

    Gene LinkOut

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

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