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

Gene ID: 79607, updated on 27-Nov-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 located in Cajal body. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 26.8), salivary gland (RPKM 21.2) and 25 other tissues See more
Orthologs
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Genomic context

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See FAM118B in Genome Data Viewer
Location:
11q24.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (126211724..126262987)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (126241256..126292471)
RS_2024_09 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)

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_2024_08

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

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