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

    Gene ID: 220082, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:30720
    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
    Summary
    Enables identical protein binding activity. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 11.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See CBY2 in Genome Data Viewer
    Location:
    13q14.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (45702320..45714559)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (44923623..44935862)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (46276455..46288694)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46254125-46254627 Neighboring gene cytochrome c oxidase subunit 4I1 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 1055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7681 Neighboring gene aldo-keto reductase family 1 member B1 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7682 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:46342761-46343282 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:46343283-46343804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46347817-46348318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46348319-46348818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46357284-46357784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46357785-46358285 Neighboring gene siah E3 ubiquitin protein ligase family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46390242-46390742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46390743-46391243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46412144-46412660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46412661-46413177 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:46421144-46421834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46424460-46424997 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:46448135-46448763 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:46456474-46457082 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:46457083-46457689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46481393-46481944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46497435-46497943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46497944-46498451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7683 Neighboring gene uncharacterized LOC105370191

    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 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 genome-wide scan for signatures of recent selection in Holstein cattle. Qanbari S, et al. Anim Genet, 2010 Aug. PMID 20096028
    2. Nuclear roles for cilia-associated proteins. McClure-Begley TD, et al. Cilia, 2017. PMID 28560031, Free PMC Article
    3. Nurit, a novel leucine-zipper protein, expressed uniquely in the spermatid flower-like structure. Feige E, et al. Mech Dev, 2002 Sep. PMID 12204287
    4. A systematic survey of loss-of-function variants in human protein-coding genes. MacArthur DG, et al. Science, 2012 Feb 17. PMID 22344438, Free PMC Article
    5. Identification of a large set of rare complete human knockouts. Sulem P, et al. Nat Genet, 2015 May. PMID 25807282

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35810

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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

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    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)

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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.

    mRNA and Protein(s)

    1. NM_001286341.2 → NP_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:50 → 165
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
      cl12007
      Location:278 → 400
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins

    2. NM_001286342.2 → NP_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:41 → 156
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
      cl12007
      Location:268 → 391
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins

    3. NM_152719.3 → NP_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
      A8K8I5, Q8NA61, Q8NHV2
      UniProtKB/TrEMBL
      A0A140VJV5
      Related
      ENSP00000309189.1, ENST00000310521.6
      Conserved Domains (2) summary
      cd07429
      Location:77 → 192
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
      cl12007
      Location:305 → 427
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      45702320..45714559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534971.3 → XP_011533273.1  protein chibby homolog 2 isoform X1

      Conserved Domains (2) summary
      cd07429
      Location:104 → 219
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins
      cl12007
      Location:332 → 454
      Cby_like; Chibby, a nuclear inhibitor of Wnt/beta-catenin mediated transcription, and similar proteins

    2. XM_047430135.1 → XP_047286091.1  protein chibby homolog 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      44923623..44935862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374193.1 → XP_054230168.1  protein chibby homolog 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NA61.1 GenPept UniProtKB/Swiss-Prot:Q8NA61

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