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    CIAO2A cytosolic iron-sulfur assembly component 2A [ Homo sapiens (human) ]

    Gene ID: 84191, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CIAO2Aprovided by HGNC
    Official Full Name
    cytosolic iron-sulfur assembly component 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:26235
    See related
    Ensembl:ENSG00000166797 MIM:618382; AllianceGenome:HGNC:26235
    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
    CIA2A; FAM96A
    Summary
    Predicted to enable metal ion binding activity. Involved in iron-sulfur cluster assembly and protein maturation by iron-sulfur cluster transfer. Located in cytosol and nucleoplasm. Part of cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver (RPKM 13.5), duodenum (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIAO2A in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (64072565..64093838, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (61879723..61900991, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (64364764..64386037, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64171093-64171988 Neighboring gene microRNA 422a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9543 Neighboring gene Sharpr-MPRA regulatory region 4498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64186155-64186656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9546 Neighboring gene uncharacterized LOC101928988 Neighboring gene death associated protein kinase 2 Neighboring gene Sharpr-MPRA regulatory region 12240 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64264631-64265378 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64277639-64278140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64290279-64290780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9548 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:64318331-64318496 Neighboring gene NANOG hESC enhancer GRCh37_chr15:64330918-64331419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64342658-64343204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64385112-64385674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9556 Neighboring gene Sharpr-MPRA regulatory region 7733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9557 Neighboring gene sorting nexin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64437862-64438378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64445879-64446610 Neighboring gene sorting nexin 22 Neighboring gene peptidylprolyl isomerase B

    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. FAM96A suppresses epithelial-mesenchymal transition and tumor metastasis by inhibiting TGFβ1 signals. Zhao N, et al. Life Sci, 2022 Jul 15. PMID 35513087
    2. The mammalian DUF59 protein Fam96a forms two distinct types of domain-swapped dimer. Chen KE, et al. Acta Crystallogr D Biol Crystallogr, 2012 Jun. PMID 22683786
    3. FAM96A is a novel pro-apoptotic tumor suppressor in gastrointestinal stromal tumors. Schwamb B, et al. Int J Cancer, 2015 Sep 15. PMID 25716227, Free PMC Article
    4. A multi-target protein of hTERTR-FAM96A presents significant anticancer potent in the treatment of hepatocellular carcinoma. Zhang MY, et al. Tumour Biol, 2017 Apr. PMID 28443470
    5. CIAO3 protein forms a stable ternary complex with two key players of the human cytosolic iron-sulfur cluster assembly machinery. Maione V, et al. J Biol Inorg Chem, 2020 May. PMID 32222833

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM96A suppresses epithelial-mesenchymal transition and tumor metastasis by inhibiting TGFbeta1 signals.
      Title: FAM96A suppresses epithelial-mesenchymal transition and tumor metastasis by inhibiting TGFβ1 signals.
    2. our data suggest that hTERTR-FAM96A may serve as an efficient anti-tumor agent for the treatment of hepatocellular carcinoma.
      Title: A multi-target protein of hTERTR-FAM96A presents significant anticancer potent in the treatment of hepatocellular carcinoma.
    3. FAM96A expression was much reduced in tumorigenic ICC-SCs.
      Title: FAM96A is a novel pro-apoptotic tumor suppressor in gastrointestinal stromal tumors.
    4. 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.
    5. putative metal-binding site of bacterial DUF59 proteins is not conserved in Fam96a, but Fam96a interacts tightly in vitro with Ciao1, the cytosolic iron-assembly protein
      Title: The mammalian DUF59 protein Fam96a forms two distinct types of domain-swapped dimer.
    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

    • FLJ22875

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of cytosolic [4Fe-4S] assembly targeting complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    cytosolic iron-sulfur assembly component 2A
    Names
    MIP18 family protein FAM96A
    family with sequence similarity 96 member A

    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_001014812.3 → NP_001014812.1  cytosolic iron-sulfur assembly component 2A isoform b

      See identical proteins and their annotated locations for NP_001014812.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal coding exon that causes a frame-shift compared to variant 1. The resulting shorter isoform (b) has a distinct C-terminus compared to isoform a. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC021541
      Consensus CDS
      CCDS45278.1
      UniProtKB/Swiss-Prot
      Q9H5X1
      Related
      ENSP00000369644.3, ENST00000380290.8
      Conserved Domains (1) summary
      cl00941
      Location:39 → 96
      FeS_assembly_P; Iron-sulfur cluster assembly protein

    2. NM_001289108.2 → NP_001276037.1  cytosolic iron-sulfur assembly component 2A isoform b

      See identical proteins and their annotated locations for NP_001276037.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal coding exon that causes a frame-shift and differs at the 3' end compared to variant 1. The resulting shorter isoform (b) has a distinct C-terminus compared to isoform a. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC021541
      Consensus CDS
      CCDS45278.1
      UniProtKB/Swiss-Prot
      Q9H5X1
      Related
      ENSP00000454079.1, ENST00000557835.6
      Conserved Domains (1) summary
      cl00941
      Location:39 → 96
      FeS_assembly_P; Iron-sulfur cluster assembly protein

    3. NM_032231.7 → NP_115607.1  cytosolic iron-sulfur assembly component 2A isoform a

      See identical proteins and their annotated locations for NP_115607.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC021541
      Consensus CDS
      CCDS10189.1
      UniProtKB/Swiss-Prot
      A6NKS1, B2R5F8, B7Z8Z5, Q9H5X1
      UniProtKB/TrEMBL
      H0YKV4
      Related
      ENSP00000300030.3, ENST00000300030.8
      Conserved Domains (1) summary
      cl00941
      Location:39 → 156
      FeS_assembly_P; Iron-sulfur cluster assembly protein

    RNA

    1. NR_110310.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains a novel exon in the 5' region compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC021541

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      64072565..64093838 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      61879723..61900991 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5X1.1 GenPept UniProtKB/Swiss-Prot:Q9H5X1

    Gene LinkOut

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

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