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

Gene ID: 27146, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (17629306..17781621, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (17611599..17763967, complement)
105.20220307 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 (9) 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)

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

  • 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_2023_10

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.

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