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    FRMPD2B FERM and PDZ domain containing 2B (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 728798, updated on 16-Jan-2024

    Summary

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    Official Symbol
    FRMPD2Bprovided by HGNC
    Official Full Name
    FERM and PDZ domain containing 2B (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:16843
    See related
    Ensembl:ENSG00000293529 AllianceGenome:HGNC:16843
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDZK4; FRMPD2; PDZD5A; PDZD5B; PDZD5C; PDZK5A; PDZK5B; PDZK5C; FRMPDP2; FRMPD2L1; FRMPD2L2; FRMPD2P1; FRMPD2P2; yX59F3.2; bA556L1.2
    Summary
    This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene (FRMPD2, GeneID 143162). Along with the functional gene, this gene is located in a region of segmental duplication on chromosome 10q. [provided by RefSeq, Dec 2014]
    Expression
    Biased expression in brain (RPKM 7.0), testis (RPKM 3.5) and 2 other tissues See more
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    Genomic context

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    Location:
    10q11.22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (46876674..46895326)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (47765424..47784070)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (48844036..48862688, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 13, pseudogene Neighboring gene FERM and PDZ domain containing 2 pseudogene Neighboring gene protein tyrosine phosphatase non-receptor type 20 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48600992-48602191 Neighboring gene NANOG hESC enhancer GRCh37_chr10:48563688-48564189 Neighboring gene uncharacterized LOC105378291 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:48510376-48510765

    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. Transcriptional fates of human-specific segmental duplications in brain. Dougherty ML, et al. Genome Res, 2018 Oct. PMID 30228200, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. 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 studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Other Names

    • FERM and PDZ domain containing 2 like 1
    • FERM and PDZ domain containing 2 like 2
    • FERM and PDZ domain containing 2 pseudogene 1
    • FERM and PDZ domain containing 2 pseudogene 2
    • FERM and PDZ domain-containing protein 2
    • FRMPD2 related 1
    • FRMPD2 related 2
    • PDZ domain containing 5A
    • PDZ domain containing 5B
    • PDZ domain-containing protein 4
    • PDZ domain-containing protein 5C

    Clone Names

    • FLJ78870, FLJ94239, KIAA0187, MGC169052, MGC169055, MGC169060, MGC169061

    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_033172.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC072395, BX005072, DC315823
      Related
      ENST00000689709.1

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      46876674..46895326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      47765424..47784070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001042515.1: Suppressed sequence

      Description
      NM_001042515.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NM_001042516.1: Suppressed sequence

      Description
      NM_001042516.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    3. NM_001042524.1: Suppressed sequence

      Description
      NM_001042524.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    4. NM_001042525.1: Suppressed sequence

      Description
      NM_001042525.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IN97.1 GenPept UniProtKB/Swiss-Prot:Q6IN97

    Gene LinkOut

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

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    Research Materials
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