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

Gene ID: 339145, updated on 3-Apr-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 centriole and cytoplasm. Predicted to be active in ciliary basal body and ciliary transition zone. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung (RPKM 3.3), endometrium (RPKM 0.5) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
16q24.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (85098358..85112472, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (91164997..91179113, complement)
105.20220307 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)

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

  • 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_2023_10

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

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