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    BOLA2B bolA family member 2B [ Homo sapiens (human) ]

    Gene ID: 654483, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BOLA2Bprovided by HGNC
    Official Full Name
    bolA family member 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:32479
    See related
    Ensembl:ENSG00000169627 AllianceGenome:HGNC:32479
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BOLA2
    Summary
    This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in duodenum (RPKM 28.0), small intestine (RPKM 24.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BOLA2B in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30192932..30193666, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30477482..30478216, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30204253..30204987, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30187986-30188486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30195204-30195744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30195745-30196286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30196287-30196826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30196827-30197368 Neighboring gene CORO1A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30197909-30198449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30198450-30198989 Neighboring gene coronin 1A Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:30204716-30205440 Neighboring gene SLX1A-SULT1A3 readthrough (NMD candidate) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30206166-30206889 Neighboring gene SLX1 homolog A, structure-specific endonuclease subunit Neighboring gene sulfotransferase family 1A member 3

    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 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. Human glutaredoxin 3 forms [2Fe-2S]-bridged complexes with human BolA2. Li H, et al. Biochemistry, 2012 Feb 28. PMID 22309771, Free PMC Article
    2. Iron-sulfur cluster biogenesis, trafficking, and signaling: Roles for CGFS glutaredoxins and BolA proteins. Talib EA, et al. Biochim Biophys Acta Mol Cell Res, 2021 Jan. PMID 32910989, Free PMC Article
    3. Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent Anamorsin Maturation Pathway. Banci L, et al. J Am Chem Soc, 2015 Dec 30. PMID 26613676
    4. hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence. Zhou YB, et al. Mol Cell Biochem, 2008 Oct. PMID 18548201
    5. Solution structure of a BolA-like protein from Mus musculus. Kasai T, et al. Protein Sci, 2004 Feb. PMID 14718656, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2 iron, 2 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron-sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in [2Fe-2S] cluster assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell redox homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular iron ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in iron-sulfur cluster assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein maturation by iron-sulfur cluster transfer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of iron-sulfur cluster assembly complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bolA-like protein 2
    Names
    BolA-like protein 2 member B
    bolA homolog 2B
    bolA-like protein 2B

    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_001039182.4 → NP_001034271.2  bolA-like protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC106782, BC137532
      Consensus CDS
      CCDS32430.2
      UniProtKB/Swiss-Prot
      A1L454, A7YDY3, Q9H3K6
      Related
      ENSP00000498355.1, ENST00000651894.2
      Conserved Domains (1) summary
      pfam01722
      Location:12 → 79
      BolA; BolA-like protein

    2. NM_001320607.3 → NP_001307536.2  bolA-like protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
      Source sequence(s)
      AC106782, BU960186
      Consensus CDS
      CCDS92138.1
      UniProtKB/TrEMBL
      H3BPT9
      Related
      ENSP00000455468.2, ENST00000569282.2

    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
      30192932..30193666 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30477482..30478216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3K6.1 GenPept UniProtKB/Swiss-Prot:Q9H3K6

    Gene LinkOut

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

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