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    NBPF20 NBPF member 20 [ Homo sapiens (human) ]

    Gene ID: 100288142, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NBPF20provided by HGNC
    Official Full Name
    NBPF member 20provided by HGNC
    Primary source
    HGNC:HGNC:32000
    See related
    Ensembl:ENSG00000162825 MIM:614007; AllianceGenome:HGNC:32000
    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
    This gene 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, Mar 2014]
    Expression
    Ubiquitous expression in testis (RPKM 6.6), skin (RPKM 5.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See NBPF20 in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    147
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145289900..145425603, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (144414641..144542479, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 (PATCHES) NW_003871055.3 (2105313..2241016, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:148241215-148241940 Neighboring gene uncharacterized LOC101060170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1260 Neighboring gene RNA, variant U1 small nuclear 14 Neighboring gene tRNA-Asn (anticodon GTT) 2-7 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:148356511-148357172 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:148357173-148357832 Neighboring gene profilin 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1608 Neighboring gene uncharacterized LOC105371288 Neighboring gene RNA, U1 small nuclear 154, pseudogene Neighboring gene tRNA-Gln (anticodon CTG) 3-1

    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. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Vandepoele K, et al. Mol Biol Evol, 2005 Nov. PMID 16079250
    2. Preliminary RNA-Seq Analysis of Long Non-Coding RNAs Expressed in Human Term Placenta. Majewska M, et al. Int J Mol Sci, 2018 Jun 27. PMID 29954144, Free PMC Article
    3. Lineage-specific gene duplication and loss in human and great ape evolution. Fortna A, et al. PLoS Biol, 2004 Jul. PMID 15252450, Free PMC Article
    4. SNIP1 Recruits TET2 to Regulate c-MYC Target Genes and Cellular DNA Damage Response. Chen LL, et al. Cell Rep, 2018 Nov 6. PMID 30404004, Free PMC Article
    5. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article

    See all (8) citations in PubMed

    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

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    neuroblastoma breakpoint family member 20

    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.

    Genomic

    1. NG_034048.2 RefSeqGene

      Range
      5000..140598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278267.1 → NP_001265196.1  neuroblastoma breakpoint family member 20 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC245014
      UniProtKB/Swiss-Prot
      P0DPF2
      UniProtKB/TrEMBL
      H7BY70
      Conserved Domains (1) summary
      pfam06758
      Location:4628 → 4693
      DUF1220; Repeat of unknown function (DUF1220)

    2. NM_001397211.1 → NP_001384140.1  neuroblastoma breakpoint family member 20 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC239860, AC245014
      Consensus CDS
      CCDS91033.1
      UniProtKB/TrEMBL
      A0A8V8TMC1, H7BY70
      Related
      ENSP00000513969.1, ENST00000698833.1

    RNA

    1. NR_189122.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC239860, AC245014

    2. NR_189123.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC239860, AC245014

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      145289900..145425603 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446015.1 → XP_047301971.1  neuroblastoma breakpoint family member 20 isoform X2

      UniProtKB/TrEMBL
      A0AAA9YHZ3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      144414641..144542479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DPF2.1 GenPept UniProtKB/Swiss-Prot:P0DPF2

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials