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

Gene ID: 654483, updated on 26-Oct-2022

Summary

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
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Genomic context

See BOLA2B in Genome Data Viewer
Location:
16p11.2
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30192932..30193666, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30477482..30478216, complement)
105.20220307 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 translation initiation factor IF-2-like Neighboring gene coronin 1A Neighboring gene Sharpr-MPRA regulatory region 7413 Neighboring gene SLX1A-SULT1A3 readthrough (NMD candidate) Neighboring gene SLX1 homolog A, structure-specific endonuclease subunit Neighboring gene sulfotransferase family 1A member 3

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IC
Inferred by Curator
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001039182.4NP_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
    A7YDY3
    Related
    ENSP00000498355.1, ENST00000651894.2
    Conserved Domains (1) summary
    pfam01722
    Location:1279
    BolA; BolA-like protein
  2. NM_001320607.3NP_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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)