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

Gene ID: 220082, updated on 5-Mar-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, Apr 2022]
Expression
Restricted expression toward testis (RPKM 11.6) See more
Orthologs
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Genomic context

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Location:
13q14.13
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (45702320..45714559)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (44923623..44935862)
105.20220307 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
  • 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. Nuclear roles for cilia-associated proteins. McClure-Begley TD, et al. Cilia, 2017. PMID 28560031, Free PMC Article
  2. A genome-wide scan for signatures of recent selection in Holstein cattle. Qanbari S, et al. Anim Genet, 2010 Aug. PMID 20096028
  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 (24) 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 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_2023_10

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

Gene LinkOut

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

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