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    NBPF22P NBPF member 22, pseudogene [ Homo sapiens (human) ]

    Gene ID: 285622, updated on 17-Sep-2024

    Summary

    Official Symbol
    NBPF22Pprovided by HGNC
    Official Full Name
    NBPF member 22, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:28731
    See related
    AllianceGenome:HGNC:28731
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This transcribed pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013]
    Expression
    Restricted expression toward testis (RPKM 2.3) See more
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    Genomic context

    See NBPF22P in Genome Data Viewer
    Location:
    5q14.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (86282444..86297547)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (86765429..86780535)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (85578262..85593365)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379063 Neighboring gene PTP4A1 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16157 Neighboring gene uncharacterized LOC105379064 Neighboring gene ASH2 like, histone lysine methyltransferase complex subunit pseudogene Neighboring gene MPRA-validated peak5329 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22744 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:85913517-85914182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:85914183-85914848 Neighboring gene small nucleolar RNA, C/D box 138 Neighboring gene cytochrome c oxidase subunit 7C

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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_003719.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC020923

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      86282444..86297547
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      86765429..86780535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)