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    CBY2 chibby family member 2 [ Homo sapiens (human) ]

    Gene ID: 220082, updated on 18-Sep-2021

    Summary

    Official Symbol
    CBY2provided by HGNC
    Official Full Name
    chibby family member 2provided by HGNC
    Primary source
    HGNC:HGNC:30720
    See related
    Ensembl:ENSG00000174015 MIM:618614
    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
    NURIT; SPERT
    Expression
    Restricted expression toward testis (RPKM 11.6) See more
    Orthologs
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    Genomic context

    See CBY2 in Genome Data Viewer
    Location:
    13q14.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (45701030..45714559)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (46276455..46288694)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 4I1 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 1055 Neighboring gene aldo-keto reductase family 1 member B1 pseudogene 4 Neighboring gene siah E3 ubiquitin protein ligase family member 3 Neighboring gene uncharacterized LOC105370191

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-03)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-03)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ35810

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    protein chibby homolog 2
    Names
    novel leucine zipper testicular protein
    spermatid associated
    spermatid flower-like structure protein
    spermatid-associated protein
    testicular tissue protein Li 182
    testis-specific leucine zipper protein nurit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001286341.2NP_001273270.1  protein chibby homolog 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC027609, HY007057, HY026582
      UniProtKB/Swiss-Prot
      Q8NA61
      Conserved Domains (2) summary
      cd07429
      Location:50165
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
      cl12007
      Location:278400
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
    2. NM_001286342.2NP_001273271.1  protein chibby homolog 2 isoform 3

      See identical proteins and their annotated locations for NP_001273271.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC027609, HY016268
      Consensus CDS
      CCDS66540.1
      UniProtKB/Swiss-Prot
      Q8NA61
      Related
      ENSP00000480148.1, ENST00000610924.1
      Conserved Domains (2) summary
      cd07429
      Location:41156
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
      cl12007
      Location:268391
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
    3. NM_152719.3NP_689932.1  protein chibby homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_689932.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK093129, BC027609, HY017873
      Consensus CDS
      CCDS9399.1
      UniProtKB/Swiss-Prot
      Q8NA61
      UniProtKB/TrEMBL
      A0A140VJV5
      Related
      ENSP00000309189.1, ENST00000310521.6
      Conserved Domains (2) summary
      cd07429
      Location:77192
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
      cl12007
      Location:305427
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      45701030..45714559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534971.2XP_011533273.1  protein chibby homolog 2 isoform X1

      Conserved Domains (2) summary
      cd07429
      Location:104219
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
      cl12007
      Location:332454
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
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