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    LOC100130691 Putative uncharacterized protein FLJ44553 [ Homo sapiens (human) ]

    Gene ID: 100130691, updated on 10-Dec-2024

    Summary

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    Gene symbol
    LOC100130691
    Gene description
    Putative uncharacterized protein FLJ44553
    See related
    Ensembl:ENSG00000213963
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Biased expression in kidney (RPKM 6.7), skin (RPKM 2.9) and 5 other tissues See more
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    Genomic context

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    See LOC100130691 in Genome Data Viewer
    Location:
    2q31.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (177283508..177392691, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (177765753..177874965, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178148236..178257419, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 5 Neighboring gene NFE2 like bZIP transcription factor 2 Neighboring gene Sharpr-MPRA regulatory region 4724 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:178127429-178128628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12145 Neighboring gene microRNA 3128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16796 Neighboring gene microRNA 6512 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:178202734-178203933 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12146 Neighboring gene H3 histone pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12147 Neighboring gene Sharpr-MPRA regulatory region 2066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:178261250-178261750 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:178275762-178275927 Neighboring gene alkylglycerone phosphate synthase Neighboring gene MPRA-validated peak3947 silencer Neighboring gene uncharacterized LOC105373762 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:178338764-178339963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178416524-178417328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178417329-178418132 Neighboring gene intraflagellar transport 70B

    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. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    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)

    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

    Potential readthrough

    Included gene: NFE2L2

    Clone Names

    • FLJ44553, AC074286.1, DKFZp451M2119, DKFZp686G13152

    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.

    RNA

    1. NR_026966.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC019080, AC079305, AK126517, AL833088
      Related
      ENST00000397057.6

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      177283508..177392691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      177765753..177874965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182585.1: Suppressed sequence

      Description
      NM_182585.1: This RefSeq was permanently suppressed because there is support for the transcript but the predicted protein is not supported by current protein homology data.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TA4.2 GenPept UniProtKB/Swiss-Prot:Q86TA4

    Gene LinkOut

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