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    FAM184B family with sequence similarity 184 member B [ Homo sapiens (human) ]

    Gene ID: 27146, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM184Bprovided by HGNC
    Official Full Name
    family with sequence similarity 184 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:29235
    See related
    Ensembl:ENSG00000047662 MIM:619945; AllianceGenome:HGNC:29235
    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
    Expression
    Ubiquitous expression in brain (RPKM 1.6), skin (RPKM 0.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM184B in Genome Data Viewer
    Location:
    4p15.32-p15.31
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (17629306..17781621, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (17611599..17763967, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (17630929..17783244, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21351 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:17584524-17585723 Neighboring gene NACA pseudogene 5 Neighboring gene MED28 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:17615609-17616808 Neighboring gene leucine aminopeptidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15312 Neighboring gene mediator complex subunit 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21355 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:17812049-17812560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:17812561-17813073 Neighboring gene DDB1 and CUL4 associated factor 16 Neighboring gene non-SMC condensin I complex subunit G Neighboring gene ligand dependent nuclear receptor corepressor like

    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. Mass spectrometry analyses of normal and polyglutamine expanded ataxin-3 reveal novel interaction partners involved in mitochondrial function. Kristensen LV, et al. Neurochem Int, 2018 Jan. PMID 29111377
    2. mTOR Inhibition via Rapamycin Treatment Partially Reverts the Deficit in Energy Metabolism Caused by FH Loss in RPE Cells. Merle DA, et al. Antioxidants (Basel), 2021 Dec 3. PMID 34943047, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462
    4. Interactome Analysis Reveals a Novel Role for RAD6 in the Regulation of Proteasome Activity and Localization in Response to DNA Damage. An H, et al. Mol Cell Biol, 2017 Mar 15. PMID 28031328, Free PMC Article
    5. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    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

    • KIAA1276

    General protein information

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    Preferred Names
    protein FAM184B

    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_015688.2 → NP_056503.1  protein FAM184B

      See identical proteins and their annotated locations for NP_056503.1

      Status: VALIDATED

      Source sequence(s)
      AC005768, AC006160
      Consensus CDS
      CCDS47033.1
      UniProtKB/Swiss-Prot
      Q9ULE4
      Related
      ENSP00000265018.3, ENST00000265018.4
      Conserved Domains (2) summary
      TIGR02168
      Location:94 → 927
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15665
      Location:48 → 235
      FAM184; Family with sequence similarity 184, A and B

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      17629306..17781621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047450066.1 → XP_047306022.1  protein FAM184B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      17611599..17763967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULE4.3 GenPept UniProtKB/Swiss-Prot:Q9ULE4

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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