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    CIBAR2 CBY1 interacting BAR domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 339145, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CIBAR2provided by HGNC
    Official Full Name
    CBY1 interacting BAR domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:24781
    See related
    Ensembl:ENSG00000153789 MIM:617274; AllianceGenome:HGNC:24781
    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
    FAM92B
    Summary
    Predicted to be involved in cilium assembly. Predicted to be located in cell projection; centriole; and cytoplasm. Predicted to be active in ciliary basal body and ciliary transition zone. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lung (RPKM 3.3), endometrium (RPKM 0.5) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIBAR2 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (85098358..85112472, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (91164997..91179113, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (85131964..85146078, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:85009937-85011136 Neighboring gene zinc finger DHHC-type palmitoyltransferase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85028227-85028727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85038209-85038959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:85045288-85046044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85068709-85069209 Neighboring gene KIAA0513 Neighboring gene Sharpr-MPRA regulatory region 15308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85100891-85101391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85110035-85110590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85111701-85112255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85115357-85116184 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85116185-85117012 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85117013-85117838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85121851-85122676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85124326-85125149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11263 Neighboring gene uncharacterized LOC105371381 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85159272-85159794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85159795-85160316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:85170709-85171641 Neighboring gene uncharacterized LOC105371382 Neighboring gene long intergenic non-protein coding RNA 2139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85180218-85180762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:85180763-85181307

    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. NELL1, NCF4, and FAM92B genes are not major susceptibility genes for Crohn's disease in Canadian children and young adults. Amre DK, et al. Inflamm Bowel Dis, 2012 Mar. PMID 21472827
    2. Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort. Roberts RL, et al. Genes Immun, 2008 Sep. PMID 18580884
    3. rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population. Glas J, et al. Am J Gastroenterol, 2009 Mar. PMID 19262523
    4. BAR Domain-Containing FAM92 Proteins Interact with Chibby1 To Facilitate Ciliogenesis. Li FQ, et al. Mol Cell Biol, 2016 Nov 1. PMID 27528616, Free PMC Article
    5. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM92 proteins interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes.
      Title: BAR Domain-Containing FAM92 Proteins Interact with Chibby1 To Facilitate Ciliogenesis.
    2. Genome-wide association studies-reported associations between the NELL1, NCF4, and FAM92B genes and susceptibility to Crohn's disease could not be replicated in Canadian children and young adults.
      Title: NELL1, NCF4, and FAM92B genes are not major susceptibility genes for Crohn's disease in Canadian children and young adults.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort.
    Submit: New GeneRIF Correction

    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

    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

    Clone Names

    • FLJ44299, MGC138149

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    CBY1-interacting BAR domain-containing protein 2
    Names
    family with sequence similarity 92 member B
    protein FAM92B

    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_001366920.1 → NP_001353849.1  CBY1-interacting BAR domain-containing protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC026469
      UniProtKB/Swiss-Prot
      A0A0D9SG36, Q6ZTR7

    2. NM_198491.3 → NP_940893.1  CBY1-interacting BAR domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_940893.1

      Status: VALIDATED

      Source sequence(s)
      AC026469, AK126284, BU680724
      Consensus CDS
      CCDS32500.1
      UniProtKB/Swiss-Prot
      A0A0D9SG36, Q6ZTR7
      UniProtKB/TrEMBL
      A0A1X7SC74
      Related
      ENSP00000443411.1, ENST00000539556.6
      Conserved Domains (1) summary
      cd07598
      Location:6 → 216
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      85098358..85112472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023198.2 → XP_016878687.1  CBY1-interacting BAR domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A0A0D9SG36, Q6ZTR7

    2. XM_011523063.2 → XP_011521365.1  CBY1-interacting BAR domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011521365.1

      UniProtKB/Swiss-Prot
      A0A0D9SG36, Q6ZTR7
      UniProtKB/TrEMBL
      A0A1X7SC74
      Conserved Domains (1) summary
      cd07598
      Location:6 → 216
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      91164997..91179113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380216.1 → XP_054236191.1  CBY1-interacting BAR domain-containing protein 2 isoform X2

    2. XM_054380215.1 → XP_054236190.1  CBY1-interacting BAR domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A1X7SC74
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZTR7.2 GenPept UniProtKB/Swiss-Prot:Q6ZTR7

    Gene LinkOut

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

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