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    UPK3BL2 uroplakin 3B like 2 [ Homo sapiens (human) ]

    Gene ID: 107983993, updated on 2-May-2024

    Summary

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    Official Symbol
    UPK3BL2provided by HGNC
    Official Full Name
    uroplakin 3B like 2provided by HGNC
    Primary source
    HGNC:HGNC:53444
    See related
    Ensembl:ENSG00000284981 AllianceGenome:HGNC:53444
    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
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in esophagus (RPKM 57.4), thyroid (RPKM 29.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See UPK3BL2 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102537919..102543696, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (103855461..103861233, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102178366..102184143, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene leucine rich repeats and WD repeat domain containing 1 Neighboring gene RNA polymerase II subunit J Neighboring gene RAS p21 protein activator 4B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102131046-102131546 Neighboring gene uncharacterized LOC124901715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102151767-102152268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102152269-102152768 Neighboring gene Sharpr-MPRA regulatory region 3260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:102156842-102157466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102165421-102165922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102165923-102166422 Neighboring gene POLR2J3-UPK3BL2 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102179485-102180312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102184221-102184721 Neighboring gene speedy/RINGO cell cycle regulator family member E2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:102212169-102212830 Neighboring gene RNA polymerase II subunit J3

    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. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Genotypes

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    uroplakin-3b-like protein 2
    Names
    Uroplakin-3b-like protein 2

    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_001363506.2 → NP_001350435.1  uroplakin-3b-like protein 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC093668
      Consensus CDS
      CCDS87532.1
      UniProtKB/Swiss-Prot
      B0FP48, E5RIL1, T2F9S8
      Related
      ENSP00000494359.1, ENST00000644544.2
      Conserved Domains (1) summary
      cl06408
      Location:41 → 211
      UP_III_II; Uroplakin IIIb, IIIa and II

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      102537919..102543696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      103855461..103861233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E5RIL1.2 GenPept UniProtKB/Swiss-Prot:E5RIL1

    Gene LinkOut

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