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    CIAO2B cytosolic iron-sulfur assembly component 2B [ Homo sapiens (human) ]

    Gene ID: 51647, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CIAO2Bprovided by HGNC
    Official Full Name
    cytosolic iron-sulfur assembly component 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:24261
    See related
    Ensembl:ENSG00000166595 MIM:614778; AllianceGenome:HGNC:24261
    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
    CIA2B; MIP18; FAM96B; CGI-128
    Summary
    Involved in chromosome segregation; iron-sulfur cluster assembly; and protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of MMXD complex and cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 31.6), heart (RPKM 26.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See CIAO2B in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66932065..66934402, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72726365..72728702, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66965968..66968305, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66945849-66946350 Neighboring gene cadherin 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66955545-66956068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66956069-66956592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7572 Neighboring gene RRAD, Ras related glycolysis inhibitor and calcium channel regulator Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:66961058-66962257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66969029-66969641 Neighboring gene carboxylesterase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66974461-66974960 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:66975020-66976219 Neighboring gene uncharacterized LOC107984881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7573 Neighboring gene MPRA-validated peak2620 silencer Neighboring gene MPRA-validated peak2621 silencer

    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. Fam96b recruits brain-type creatine kinase to fuel mitotic spindle formation. Zhang XH, et al. Biochim Biophys Acta Mol Cell Res, 2023 Feb. PMID 36503010
    2. FAM96B inhibits the senescence of dental pulp stem cells. Liang H, et al. Cell Biol Int, 2020 May. PMID 32039527
    3. Identification of FAM96B as a novel selenoprotein W binding partner in the brain. Chen P, et al. Biochem Biophys Res Commun, 2019 Apr 23. PMID 30876693
    4. Interference of E2-2-mediated effect in endothelial cells by FAM96B through its limited expression of E2-2. Yang W, et al. Cancer Sci, 2011 Oct. PMID 21722264
    5. Identification of FAM96B as a novel prelamin A binding partner. Xiong XD, et al. Biochem Biophys Res Commun, 2013 Oct 11. PMID 24041693

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fam96b recruits brain-type creatine kinase to fuel mitotic spindle formation.
      Title: Fam96b recruits brain-type creatine kinase to fuel mitotic spindle formation.
    2. FAM96B inhibits the senescence of dental pulp stem cells.
      Title: FAM96B inhibits the senescence of dental pulp stem cells.
    3. Structural insights into Fe-S protein biogenesis by the CIA targeting complex.
      Title: Structural insights into Fe-S protein biogenesis by the CIA targeting complex.
    4. We performed a yeast two-hybrid screen on a human fetal brain cDNA library and identified FAM96B as a novel binding partner of SelW. FRET analyses confirmed the interaction between SelW' and FAM96B.
      Title: Identification of FAM96B as a novel selenoprotein W binding partner in the brain.
    5. Data suggest that CIA2B and MMS19 physically interact with C-terminus of viperin/RSAD2; CIAO1 appears to function as primary viperin-interacting protein; CIA2A binds to N-terminus of viperin in CIAO1-, CIA2B-, and MMS19-independent fashion. (CIA2B = metallochaperone CIA2B/FAM96B; MMS19 = transcription factor MMS19; CIAO1 = cytosolic iron-sulfur assembly component 1; CIA2A = metallochaperone CIA2A/Fam96a)
      Title: Cellular requirements for iron-sulfur cluster insertion into the antiviral radical SAM protein viperin.
    6. CIA2B-CIA1-MMS19 and CIA2A-CIA1 assist different branches of Fe/S protein assembly and intimately link this process to cellular iron regulation via IRP1 Fe/S cluster maturation and IRP2 stabilization.
      Title: Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins.
    7. Co-localization experiments by fluorescent confocal microscopy revealed that FAM96B colocalized with prelamin A in HEK-293 cells.
      Title: Identification of FAM96B as a novel prelamin A binding partner.
    8. The mammalian proteins MMS19, MIP18, and ANT2 are involved in cytoplasmic iron-sulfur cluster protein assembly.
      Title: The mammalian proteins MMS19, MIP18, and ANT2 are involved in cytoplasmic iron-sulfur cluster protein assembly.
    9. these findings suggest that FAM96B acts as a regulator of E2-2 through the control of its protein expression.
      Title: Interference of E2-2-mediated effect in endothelial cells by FAM96B through its limited expression of E2-2.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 NL4-3 replication requires FAM96B as replication is inhibited when FAM96B is deleted through CRISPR/Cas9 genome editing PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol HIV-1 Tat is identified to have a physical interaction with family with sequence similarity 96, member B (FAM96B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in iron-sulfur cluster assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein maturation by [4Fe-4S] cluster transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein maturation by iron-sulfur cluster transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein maturation by iron-sulfur cluster transfer IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MMXD complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of cytosolic [4Fe-4S] assembly targeting complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytosolic [4Fe-4S] assembly targeting complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytosolic iron-sulfur assembly component 2B
    Names
    MSS19-interacting protein of 18 kDa
    family with sequence similarity 96 member B
    mitotic spindle-associated MMXD complex subunit MIP18

    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_016062.4 → NP_057146.1  cytosolic iron-sulfur assembly component 2B

      See identical proteins and their annotated locations for NP_057146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript but encodes the supported protein.
      Source sequence(s)
      AF151886, DA270099
      Consensus CDS
      CCDS45506.1
      UniProtKB/Swiss-Prot
      Q9Y3D0
      Related
      ENSP00000387471.2, ENST00000422424.7
      Conserved Domains (1) summary
      cl00941
      Location:23 → 161
      FeS_assembly_P; Iron-sulfur cluster assembly protein

    RNA

    1. NR_024525.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an additional segment in the 5' region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF151886, DA270099, DR155511
      Related
      ENST00000563490.1

    2. NR_046109.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses alternate splice sites in the 5' region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF151886, BI603322, DA270099
      Related
      ENST00000562362.5

    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
      66932065..66934402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      72726365..72728702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3D0.1 GenPept UniProtKB/Swiss-Prot:Q9Y3D0

    Gene LinkOut

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

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