U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    FAM50B family with sequence similarity 50 member B [ Homo sapiens (human) ]

    Gene ID: 26240, updated on 9-Dec-2024

    Summary

    Official Symbol
    FAM50Bprovided by HGNC
    Official Full Name
    family with sequence similarity 50 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:18789
    See related
    Ensembl:ENSG00000145945 MIM:614686; AllianceGenome:HGNC:18789
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    X5L; D6S2654E
    Summary
    This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in kidney (RPKM 6.3), testis (RPKM 5.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FAM50B in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3831894..3851317)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3701518..3720954)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3849607..3851551)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3724209-3724747 Neighboring gene Sharpr-MPRA regulatory region 15708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3737712-3738338 Neighboring gene PX domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16857 Neighboring gene NANOG hESC enhancer GRCh37_chr6:3756018-3756884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3757047-3758012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3761087-3761600 Neighboring gene Sharpr-MPRA regulatory region 8997 Neighboring gene uncharacterized LOC124901244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3810000-3810500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3810501-3811001 Neighboring gene uncharacterized LOC107986557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23893 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:3894715-3895268 Neighboring gene uncharacterized LOC107986558 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:3899874-3901073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3903895-3904396 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:3911966-3912163 Neighboring gene ribosomal protein S25 pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in midbody IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protein FAM50B
    Names
    XAP5 like
    XAP5-like protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_045226.1 RefSeqGene

      Range
      5008..6952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1062

    mRNA and Protein(s)

    1. NM_012135.3NP_036267.1  protein FAM50B

      See identical proteins and their annotated locations for NP_036267.1

      Status: REVIEWED

      Source sequence(s)
      BC001261, BI488606, DB566944
      Consensus CDS
      CCDS4487.1
      UniProtKB/Swiss-Prot
      Q5T2L6, Q9Y247
      Related
      ENSP00000496837.1, ENST00000648326.1
      Conserved Domains (1) summary
      pfam04921
      Location:141324
      XAP5; XAP5, circadian clock regulator

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      3831894..3851317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010729.2XP_016866218.1  protein FAM50B isoform X1

      UniProtKB/Swiss-Prot
      Q5T2L6, Q9Y247
      Conserved Domains (1) summary
      pfam04921
      Location:141324
      XAP5; XAP5, circadian clock regulator

    RNA

    1. XR_001743335.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      3701518..3720954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355142.1XP_054211117.1  protein FAM50B isoform X1

      UniProtKB/Swiss-Prot
      Q5T2L6, Q9Y247

    RNA

    1. XR_007076453.1 RNA Sequence