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    BEND2 BEN domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 139105, updated on 19-May-2018
    Official Symbol
    BEND2provided by HGNC
    Official Full Name
    BEN domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28509
    See related
    Ensembl:ENSG00000177324 Vega:OTTHUMG00000021211
    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
    Also known as
    CXorf20
    Summary
    This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
    Expression
    Restricted expression toward testis (RPKM 2.6) See more
    Orthologs
    See BEND2 in Genome Data Viewer
    Location:
    Xp22.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (18162931..18220904, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (18181051..18239024, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MDM4, p53 regulator pseudogene Neighboring gene long intergenic non-protein coding RNA 1456 Neighboring gene Scm polycomb group protein like 2 Neighboring gene thymosin beta 10 pseudogene 2 Neighboring gene cyclin dependent kinase like 5 Neighboring gene gap junction protein alpha 6 pseudogene

    • 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 Jun 15 11:32:44 2016
    Products Interactant Other Gene Complex Source Pubs Description
    Preferred Names
    BEN domain-containing protein 2

    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_021323.1 RefSeqGene

      Range
      5001..62974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184767.1NP_001171696.1  BEN domain-containing protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL096763, BC096745, BX952865
      Consensus CDS
      CCDS55375.1
      UniProtKB/Swiss-Prot
      Q8NDZ0
      Related
      ENSP00000369369.3, ENST00000380030.4
      Conserved Domains (2) summary
      smart01025
      Location:414489
      BEN; The BEN domain is found in diverse animal proteins
      pfam13900
      Location:84126
      GVQW; Putative domain of unknown function
    2. NM_153346.4NP_699177.2  BEN domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_699177.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK128155, AL096763, BC037301, BX952865
      Consensus CDS
      CCDS14184.1
      UniProtKB/Swiss-Prot
      Q8NDZ0
      UniProtKB/TrEMBL
      B3KXX8
      Related
      ENSP00000369372.4, OTTHUMP00000022999, ENST00000380033.8, OTTHUMT00000055940
      Conserved Domains (2) summary
      smart01025
      Location:687763
      BEN; The BEN domain is found in diverse animal proteins
      pfam13900
      Location:84126
      GVQW; Putative domain of unknown function

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      18162931..18220904 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029266.1XP_016884755.1  BEN domain-containing protein 2 isoform X2

    2. XM_011545447.1XP_011543749.1  BEN domain-containing protein 2 isoform X1

      Conserved Domains (2) summary
      smart01025
      Location:701777
      BEN; The BEN domain is found in diverse animal proteins
      pfam13900
      Location:84126
      GVQW; Putative domain of unknown function
    3. XM_017029267.1XP_016884756.1  BEN domain-containing protein 2 isoform X3

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